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Macleod General Examination

The document discusses general principles and techniques for performing a physical examination. It covers preparing the patient and environment, required equipment, examination order and process, and specific areas to examine like hands, skin, and body habitus. Emphasis is placed on patient comfort, discretion, and obtaining consent.

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Hana Soso
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0% found this document useful (0 votes)
12 views

Macleod General Examination

The document discusses general principles and techniques for performing a physical examination. It covers preparing the patient and environment, required equipment, examination order and process, and specific areas to examine like hands, skin, and body habitus. Emphasis is placed on patient comfort, discretion, and obtaining consent.

Uploaded by

Hana Soso
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 18

Anna R Dover

J Alastair Innes
Karen Fairhurst
3
General aspects
of examination
General principles of physical examination 20 Odours 29
Preparing for physical examination 20 Body habitus and nutrition 29
Sequence for performing a physical examination 21 Weight 29
Stature 29
Initial observations 22
Hydration 30
Gait and posture 22
Facial expression and speech 23 Lumps and lymph nodes 31

Hands 23 Spot diagnoses 34


Major chromosomal abnormalities 34
Skin 26
Tongue 29
20 • General aspects of examination

General principles of physical 3.1 Information gleaned from a handshake


examination Features Diagnosis
Cold, sweaty hands Anxiety
The process of taking a history and conducting a physical
examination is artificially separated in classical medical teaching, Cold, dry hands Raynaud’s phenomenon
to encourage learners to develop a structured approach to Hot, sweaty hands Hyperthyroidism
information gathering. However, your physical assessment of Large, fleshy, sweaty hands Acromegaly
patients undoubtedly begins as soon as you see them, and
Dry, coarse skin Regular water exposure
the astute clinician may notice signs of disease, such as subtle Manual occupation
abnormalities of demeanour, gait or appearance, even before Hypothyroidism
the formal consultation begins. The clinician can be likened to
Delayed relaxation of grip Myotonic dystrophy
a detective, gathering clues, and the physical assessment of a
patient can then be seen as the investigation itself! Deformed hands/fingers Trauma
Historically, great importance has been placed on the value Rheumatoid arthritis
Dupuytren’s contracture
of empirical observation of patients in the formulation of a
differential diagnosis. Modern technological advances have
increased the reliance on radiological and laboratory testing for
diagnosis, sometimes even at the bedside (such as portable
ultrasound or near-patient capillary blood ketone testing), and 3.2 Equipment required for a full examination
this has called into question the utility of systematic physical • Stethoscope • Thermometer
examination in modern practice. Nevertheless, the importance • Pen torch • Magnifying glass
of performing a methodical and accurate physical examination • Measuring tape • Accurate weighing scales and
cannot be overstated. The inconstancy of physical signs and • Ophthalmoscope a height-measuring device
the need to monitor patient progress by repeated bedside • Otoscope (preferably a calibrated,
assessment, often conducted by different clinicians, mean that • Sphygmomanometer wall-mounted stadiometer)
a standardised approach to physical examination resulting in • Tendon hammer • Personal protective equipment
reproducible findings is crucial. Additionally, the interpretation of • Tuning fork (disposable gloves and apron)
• Cotton wool • Facilities for obtaining blood
many diagnostic investigations (such as detection of interstitial
• Disposable Neurotips samples and urinalysis
oedema on a chest X-ray in heart failure) is subject to variation
• Wooden spatula
between clinicians, as is the detection of physical signs (such
as audible crackles on auscultating the lungs). Furthermore,
the utility of many diagnostic investigations relies heavily on the
pre-test probability (the likelihood of the disease being present gender as the doctor or not, chaperones are always appropriate
prior to the test being performed; p. 362), which depends on for intimate (breast, genital or rectal) examination. Chaperones
information gathered during the history and examination. Finally, are also advised if the patient is especially anxious or vulnerable,
there are a number of conditions, or syndromes, that can be if there have been misunderstandings in the past, or if religious
diagnosed only by the detection of a characteristic pattern of or cultural factors require a different approach to physical
physical signs. Thus by mastering structured skills in physical examination. Record the chaperone’s name and presence. If
examination, clinicians can improve the reliability and precision patients decline the offer, respect their wishes and record this
of their clinical assessment, which, together with the appropriate in the notes. Tactfully invite relatives to leave the room before
diagnostic investigations, lead to accurate diagnosis. physical examination unless the patient is very apprehensive and
requests that they stay. A parent or guardian should always be
present when you examine children (p. 307).
The room should be warm and well lit; subtle abnormalities
Preparing for physical examination of complexion, such as mild jaundice, are easier to detect in
natural light. The height of the examination couch or bed should
It is important to prepare both yourself and your patient for the be adjustable, with a step to enable patients to get up easily.
physical examination. As a clinician, you must take reasonable An adjustable backrest is essential, particularly for breathless
steps to ensure you can give the patient your undivided attention, patients who cannot lie flat. It is usual practice to examine a
in an environment free from interruption, noise or distraction. recumbent patient from the right-hand side of the bed. Ensure
Always introduce yourself to the patient, shake hands (which the patient is comfortably positioned before commencing the
may provide diagnostic clues; Box 3.1 and see later) and seek physical examination.
permission to conduct the consultation. Make sure you have Seek permission and sensitively, but adequately, expose
the relevant equipment available (Box 3.2) and that you have the areas to be examined; cover the rest of the patient with
observed local hand hygiene policies (Fig. 3.1). As discussed a blanket or sheet to ensure that they do not become cold.
on page 4, privacy is essential when assessing a patient. At the Avoid unnecessary exposure and embarrassment; a patient may
very least, ensure screens or curtains are fully closed around a appreciate the opportunity to replace their top after examination
ward bed; where possible, use a separate private room to avoid of the chest before exposing the abdomen. Remain gentle
being overheard. Seek permission from the patient to proceed to towards the patient at all times, and be vigilant for aspects
examination, and offer a chaperone where appropriate to prevent of the examination that may cause distress or discomfort.
misunderstandings and to provide support and encouragement Acknowledge any anxiety or concerns raised by the patient
for the patient. Regardless of whether the patient is the same during the consultation.
Sequence for performing a physical examination • 21

How to hand-rub How to hand-wash


with alcohol-based hand-rub with soap and water
1 1

Apply a palmful of the product Wet hands and apply enough


and cover all hand surfaces soap to cover all hand surfaces

2 3 4

8
Rub hands palm to palm Right palm over the back of the Palm to palm with
other hand with interlaced fingers interlaced
fingers and vice versa
5 6 7

Rinse hands with water

9
Backs of fingers to opposing Rotational rubbing of left Rotational rubbing, backwards
palms with fingers interlocked thumb clasped in right and forwards with clasped
palm and vice versa fingers of right hand in left
palm and vice versa

Dry thoroughly with towel


8 Steps 2–7 should take 11 Steps 2–7 should take
at least 15 seconds at least 15 seconds 10

Use elbow to turn off tap

Fig. 3.1 Techniques for hand hygiene. From WHO Guidelines on Hand Hygiene in Health Care First Global Patient Safety Challenge Clean Care is Safer
Care; http://www.who.int/gpsc/clean_hands_protection/en/ © World Health Organization 2009. All rights reserved.

Sequence for performing a system in this case) will be examined. In other circumstances,
however, a full integrated physical examination will be required
physical examination and this is described in detail on page 362.
There is no single correct way to perform a physical examination
The purpose of the physical examination is to look for the but standardised systematic approaches help to ensure that
presence, or absence, of physical signs that confirm or refute nothing is omitted. With experience, you will develop your own
the differential diagnoses you have obtained from the history. The style and sequence of physical examination. Broadly speaking,
extent of the examination will depend on the symptoms that you any systematic examination involves looking at the patient (for
are investigating and the circumstances of the encounter. Often, skin changes, scars, abnormal patterns of breathing or pulsation,
in a brief, focused consultation (such as a patient presenting to a for example), laying hands on the patient to palpate (feel) and
general practitioner with headache), a single system (the nervous percuss (tapping on the body), and finally using a stethoscope,
22 • General aspects of examination

where appropriate, to listen to the relevant system (auscultate).


This structured approach to the examination of the system can
be summarised as:
• inspection
• palpation
• percussion
• auscultation.

Initial observations
The physical examination begins as soon as you see the patient.
Start with a rapid assessment of how unwell the patient is,
since the clinical assessment may have to be adjusted for a
Fig. 3.2 Tattoos can be revealing.
deteriorating or dying patient, and any abnormal physiology may
need to be addressed urgently before the actual diagnosis is found
(pp. 341 and 348). Early warning scoring systems (which include
assessment of vital signs: pulse, blood pressure, respiratory rate
and oxygen saturations, temperature, conscious level and pain
score) are used routinely to assess unwell patients and these
clinical measurements aid decisions about illness severity and
urgency of assessment (p. 340). If your patient is distressed
or in pain, giving effective analgesia may take priority before
undertaking a more structured evaluation, although a concurrent
evaluation for the cause of the pain is clearly important.
For the stable or generally well patient, a more measured
assessment can begin. Observe the patient before the consultation
begins. Do they look generally well or unwell? What is their
demeanour? Are they sitting up comfortably reading or on the
telephone to a relative, or do they seem withdrawn, distressed
or confused?
Notice the patient’s attire. Are they dressed appropriately?
Clothing gives clues about personality, state of mind and social
circumstances, as well as a patient’s physical state. Patients
with recent weight loss may be wearing clothes that look very
Fig. 3.3 The linear marks of intravenous injection at the right
baggy and loose. Are there signs of self-neglect (which may
antecubital fossa.
be underpinned by other factors such as cognitive impairment,
immobility or drug or alcohol dependence) or inappropriate
attire? For example, a patient with thyrotoxicosis may come
to see you dressed for summer in the depths of winter due to
heat intolerance.
Often there will be clues to the patient’s underlying medical
condition either about the person (for example, they may be
wearing a subcutaneous insulin pump to treat their type 1
diabetes, or carrying a portable oxygen cylinder if they have
significant pulmonary fibrosis) or by the bedside (look on the
bedside table for a hearing aid, peak flow meter or inhaler
device, and note any walking aid, commode and wheelchair,
which provide clues to the patient’s functional status). Patients
may be wearing a medical identity bracelet or other jewellery
alerting you to an underlying medical condition or life-sustaining
treatment. Note any tattoos or piercings; as well as there being
possible associated infection risks, these can provide important
background information (Fig. 3.2). Be sure to look for any
venepuncture marks of intravenous drug use or linear (usually
transverse) scars from recent or previous deliberate self-harm Fig. 3.4 Scars from deliberate self-harm (cutting).
(Figs 3.3 and 3.4).
normal or is there evidence of pain, immobility or weakness?
Gait and posture Abnormalities of gait can be pathognomonic signs of neurological
or musculoskeletal disease: for example, the hemiplegic gait
If patients are ambulant, watch how they rise from a chair and after stroke, the ataxic gait of cerebellar disease or the marche
walk towards you. Are they using a walking aid? Is the gait à petits pas (‘walk of little steps’) gait in a patient with diffuse
Hands • 23

3.3 Facial expression as a guide to diagnosis


Features Diagnosis
Poverty of expression Parkinsonism
Startled expression Hyperthyroidism
3
Apathy, with poverty of expression and Depression
poor eye contact
Apathy, with pale and puffy skin Hypothyroidism
Agitated expression Anxiety, hyperthyroidism,
hypomania

cerebrovascular disease or Parkinsonism (see Fig. 7.17D). Notice


any abnormal movements such as tremor (in alcohol withdrawal,
for example), dystonia (perhaps as a side effect of neuroleptic Fig. 3.5 Dupuytren’s contracture.
therapy) or chorea (jerky, involuntary movements, characteristic
of Huntington’s disease). Abnormalities of posture and movement
can also be a clue to the patient’s overall wellbeing, and
may represent pain, weakness or psychological or emotional
disturbance.

Facial expression and speech


As with gait and posture, a patient’s facial expression and how
they interact with you can provide clues to their physical and
psychological wellbeing (Box 3.3). Reluctance to engage in the
consultation may indicate underlying depression, anxiety, fear,
anger or grief, and it is important to recognise these emotions
to ensure that both the physical and the emotional needs of the Fig. 3.6 Normal palms. African (left) and European (right).
patient are addressed effectively. Some people conceal anxieties
and depression with inappropriate cheerfulness. Illness itself may
alter demeanour: frontal lobe disease or bipolar disorders may metacarpophalangeal and proximal interphalangeal joints (see
lead to animated disinhibition, whereas poverty of expression Fig. 13.22), and osteoarthritis and psoriatic arthropathy affect the
may occur in depression or Parkinson’s disease. Physical signs in distal interphalangeal joints (see Fig. 13.8). Small-muscle wasting
the face that are associated with specific diagnoses are covered of the hands is common in rheumatoid arthritis, producing ‘dorsal
later (see Box 3.9). guttering’ of the hands, and also occurs in cervical spondylosis
Be vigilant for abnormalities in the character of speech, such with nerve root entrapment. In carpal tunnel syndrome, median
as slurring (due to alcohol, for example, or dysarthria caused by nerve compression leads to wasting of the thenar muscles, also
motor neurone disease; p. 125), hoarseness (which can represent seen in damage affecting the T1 nerve root (see Fig. 13.23).
recurrent laryngeal nerve damage; p. 186) or abnormality of Dupuytren’s contracture is a thickening of the palmar fascia
speech cadence (which could be caused by pressure of speech causing fixed flexion deformity, and usually affects the little and
in hyperthyroidism or slowing of speech in myxoedema; p. 197). ring fingers (Fig. 3.5). Arachnodactyly (long, thin fingers) is typical
of Marfan’s syndrome (see Fig. 3.21B). Trauma is the most
common cause of hand deformity.
Hands
Colour
Starting your physical contact with a patient with a handshake Colour changes in the hands may also be revealing. Look for
not only is polite but also may reveal relevant signs (see Box 3.1). peripheral cyanosis in the nail bed and tobacco staining of the
The rare disease myotonic dystrophy (which is over-represented fingers (see Fig. 5.8). Examine the skin creases for pigmentation,
in candidate assessments) causes a patient to fail to release although pigmentation is normal in many non-Caucasian races
the handgrip (due to delayed muscle relaxation). A patient with (Fig. 3.6).
neurological disease may be unable to shake your hand, or may
have signs of muscle wasting or tremor. Detailed examination of Temperature
the hands is described on page 265 but even a brief inspection
The temperature of the patient’s hand is a good guide to peripheral
and palpation may be very revealing.
perfusion. In chronic obstructive pulmonary disease the hands
may be cyanosed due to reduced arterial oxygen saturation but
Deformity
warm due to vasodilatation from elevated arterial carbon dioxide
Deformity may indicate nerve palsies or arthritic changes (such as levels. In heart failure the hands are often cold and cyanosed
ulnar deviation at the metacarpophalangeal joints in longstanding because of vasoconstriction in response to a low cardiac output.
rheumatoid arthritis; see Fig. 13.22). Arthritis frequently involves If they are warm, heart failure may be due to a high-output state,
the small joints of the hands. Rheumatoid arthritis typically affects such as hyperthyroidism.
24 • General aspects of examination

3.4 The nails in systemic disease


Nail changes Description of nail Differential diagnosis
Beau’s lines Transverse grooves (see Fig. 3.7B) Sequella of any severe systemic illness that affects
growth of the nail matrix
Clubbing Loss of angle between nail fold and nail plate (see Fig. 3.8) Serious cardiac, respiratory or gastrointestinal disease
(see Box 3.5)
Leuconychia White spots, ridges or complete discoloration of nail Trauma, infection, poisoning, chemotherapy, vitamin
(see Fig. 3.7C) deficiency
Lindsay’s nails White/brown ‘half-and-half’ nails (see Fig. 12.7) Chronic kidney disease
Koilonychia Spoon-shaped depression of nail plate (see Fig. 3.7D) Iron deficiency anaemia, lichen planus, repeated
exposure to detergents
Muehrcke’s lines Narrow, white transverse lines (see Fig. 12.6) Decreased protein synthesis or protein loss
Nail-fold telangiectasia Dilated capillaries and erythema at nail fold (see Fig. 14.13B) Connective tissue disorders, including systemic
sclerosis, systemic lupus erythematosus,
dermatomyositis
Onycholysis Nail separates from nail bed (see Fig. 3.7A) Psoriasis, fungal infection, trauma, thyrotoxicosis,
tetracyclines (photo-onycholysis)
Onychomycosis Thickening of nail plate with white, yellow or brown discoloration Fungal infection
Pitting Fine or coarse pits in nail (see Fig. 3.7A) Psoriasis (onycholysis, thickening and ridging may also
be present), eczema, alopecia areata, lichen planus
Splinter haemorrhages Small red streaks that lie longitudinally in nail plate (see Fig. 4.5B) Trauma, infective endocarditis
Yellow nails Yellow discoloration and thickening (see Fig. 14.13C) Yellow nail syndrome

Skin 3.5 Causes of clubbing


Skin changes in the hands can indicate systemic disease, as in
the coarse skin and broad hands of a patient with acromegaly Congenital or familial (5–10%)
(see Fig. 10.8), or the tight, contracted skin (scleroderma) and Acquired
calcium deposits associated with systemic sclerosis (see Figs • Thoracic (~70%):
3.30C and 13.6). Clues about lifestyle can also be seen in the • Lung cancer
hands: manual workers may have specific callosities due to • Chronic suppurative conditions: pulmonary tuberculosis,
bronchiectasis, lung abscess, empyema, cystic fibrosis
pressure at characteristic sites, while disuse results in soft,
• Mesothelioma
smooth skin. • Fibroma
• Pulmonary fibrosis
Nails • Cardiovascular:
Nail changes occur in a wide variety of systemic diseases. Box 3.4 • Cyanotic congenital heart disease
• Infective endocarditis
and Fig. 3.7 summarise nail changes seen on general examination
• Arteriovenous shunts and aneurysms
that may indicate underlying systemic disease. • Gastrointestinal:
Finger clubbing describes painless soft tissue swelling of the • Cirrhosis
terminal phalanges and increased convexity of the nail (Fig. 3.8). • Inflammatory bowel disease
Clubbing usually affects the fingers symmetrically. It may also • Coeliac disease
involve the toes and can be unilateral if caused by a proximal • Others:
vascular condition, such as arteriovenous shunts for dialysis. It • Thyrotoxicosis (thyroid acropachy)
is sometimes congenital but in over 90% of patients it heralds • Primary hypertrophic osteoarthropathy
a serious underlying disorder (Box 3.5). Clubbing may recede if
the underlying condition resolves.
• Place your thumbs under the pulp of the distal phalanx
Examination sequence and use your index fingers alternately to see if there
is fluctuant movement of the nail on the nail bed
• Look across the nail bed from the side of each finger.
(Fig. 3.9C).
Observe the distal phalanges, nail and nail bed:
Finger clubbing is likely if:
• Estimate the interphalangeal depth at the level of the
distal interphalangeal joint (this is the anteroposterior • the interphalangeal depth ratio is > 1 (that is, the digit is
thickness of the digit rather than the width). Repeat at thicker at the level of the nail bed than the level of the
the level of the nail bed. distal interphalangeal joint; Fig. 3.9A)
• Assess the nail-bed (hyponychial) angle (Fig. 3.9A). • the nail fold angle is > 190 degrees (Fig. 3.9A)
• Ask the patient to place the nails of corresponding (ring) • Schamroth’s window sign is absent (Fig. 3.9B).
fingers back to back and look for the normal Increased nail-bed fluctuation may be present and may support
‘diamond-shaped’ gap between the nail beds the finding of clubbing, but its presence is subjective and less
(Schamroth’s window sign; Fig. 3.9B). discriminatory than the above features.
Hands • 25

A B C

Fig. 3.7 Nail abnormalities in systemic disease. A Onycholysis with pitting in psoriasis. B Beau’s lines
seen after acute severe illness. C Leuconychia. D Koilonychia. (A) From Innes JA. Davidson’s Essentials of
D Medicine. 2nd edn. Edinburgh: Churchill Livingstone; 2016.

A B
Fig. 3.8 Clubbing. A Anterior view. B Lateral view.

Nail-fold angles Normal

Normal 3

1 2
Schamroth’s
window present

Clubbed
Clubbed 3

1 2
Schamroth’s
window absent
A B C
Fig. 3.9 Examining for finger clubbing. A Assessing interphalangeal depth at (1) interphalangeal joint and (2) nail bed, and nail-bed angle (3).
B Schamroth’s window sign. C Assessing nail-bed fluctuation.
26 • General aspects of examination

Skin Haemosiderin
This product of haemoglobin breakdown is deposited in the skin
A detailed approach to examination of the skin is described on of the lower legs following subcutaneous extravasation of blood
page 286. In everyday practice the skin can provide insights due to venous insufficiency. Local deposition of haemosiderin
into present and past medical disorders, as well as information (erythema ab igne or ‘granny’s tartan’) occurs with heat damage
about the patient’s social or mental status. to the skin from sitting too close to a fire or from applying local
The skin should be exposed where appropriate and inspected heat, such as a hot water bottle, to the site of pain (Fig. 3.12).
carefully for any abnormalities of pigmentation. Skin colour is
determined by pigments in the skin – melanin, an endogenous Easy bruising
brown pigment, and carotene, an exogenous yellow pigment Easy bruising can be a reflection of skin and connective tissue
(mainly derived from ingestion of carrots and other vegetables) fragility due to advancing age or glucocorticoid usage, or a more
– as well as by the amount of oxyhaemoglobin (red) and serious coagulopathy.
deoxyhaemoglobin (blue) circulating in the dermis.
Depigmentation occurs in the autoimmune condition vitiligo, in Hypercarotenaemia
which there is often bilateral symmetrical depigmentation, commonly
of the face, neck and extensor aspects of the limbs, resulting Hypercarotenaemia occurs due to excessive ingestion of
in irregular pale patches of skin (Fig. 3.10). It is associated with carotene-containing vegetables or in situations of impaired
other autoimmune diseases like diabetes mellitus, thyroid and metabolism such as hypothyroidism or anorexia nervosa. A
adrenal disorders, and pernicious anaemia. Hypopituitarism also yellowish discoloration is seen on the face, palms and soles
results in pale skin due to reduced production of melanotrophic but not the sclera or conjunctiva, and this distinguishes it from
peptides (see Fig. 10.10). Albinism is an inherited disorder in which jaundice (Fig. 3.13).
patients have little or no melanin in their skin or hair. The amount
of pigment in the iris varies; some individuals have reddish eyes Discoloration
but most have blue. Skin discoloration can also occur due to abnormal pigments such
Hyperpigmentation can be due to excess of the pituitary as the sallow yellow-brownish tinge in chronic kidney disease.
hormone adrenocorticotrophic hormone (ACTH), as in adrenal A bluish tinge is produced by abnormal haemoglobins, such as
insufficiency (or the very rare condition Nelson’s syndrome, sulphaemoglobin or methaemoglobin (see the section on cyanosis
in which there is ACTH overproduction following bilateral later), or by drugs such as dapsone. Some drug metabolites cause
adrenalectomy for pituitary Cushing’s disease). It produces brown
pigmentation, particularly in skin creases, recent scars, sites
overlying bony prominences, areas exposed to pressure such
as belts and bra straps, and the mucous membranes of the lips
and mouth, where it results in muddy brown patches (see Fig.
10.12B). Pregnancy and oral contraceptives may also cause
blotchy hyperpigmentation on the face, known as chloasma,
and pregnancy may increase pigmentation of the areolae, axillae,
genital skin and linea alba (producing a dark line in the midline
of the lower abdomen, called a ‘linea nigra’).

Haemochromatosis
This inherited condition of excessive iron absorption results in skin
hyperpigmentation due to iron deposition and increased melanin
production (Fig. 3.11). When iron deposition in the pancreas
Fig. 3.11 Haemochromatosis with increased skin pigmentation.
also causes diabetes mellitus, this is called ‘bronze diabetes’.

Fig. 3.10 Vitiligo. Fig. 3.12 Erythema ab igne.


Skin • 27

Fig. 3.13 Hypercarotenaemia. A control normal hand is shown on the


right for comparison.
Fig. 3.15 Conjunctival pallor.

Fig. 3.16 Smooth red tongue (glossitis) and angular stomatitis of iron
deficiency.

3.6 Conditions associated with facial flushing


Fig. 3.14 Phenothiazine-induced pigmentation. Physiological
• Fever
• Exercise
• Heat exposure
strikingly abnormal coloration of the skin, particularly in areas • Emotional
exposed to light: for example, mepacrine (yellow), amiodarone Drugs (e.g. glyceryl trinitrate, calcium channel blockers,
(bluish-grey) and phenothiazines (slate-grey; Fig. 3.14). nicotinic acid)
Jaundice Anaphylaxis
Endocrine
Jaundice is an abnormal yellow discoloration of the skin, sclera
• Menopause
and mucous membranes. It is usually detectable when serum
• Androgen deficiency (in men)
bilirubin concentration rises above 50 µmol/L (3 mg/dL) as a result • Carcinoid syndrome
of parenchymal liver disease, biliary obstruction or haemolysis • Medullary thyroid cancer
(see Fig. 6.8). Others
• Serotonin syndrome
Pallor
• Food/alcohol ingestion
Pallor can result from anaemia, in which there is a reduction in • Neurological (e.g. Frey’s syndrome)
circulating oxyhaemoglobin in the dermal and subconjunctival • Rosacea
capillaries, or from vasoconstriction due to cold exposure or • Mastocytoses
sympathetic activation. The best sites to assess for the pallor
of anaemia are the conjunctiva (specifically the anterior rim; Fig.
3.15), the palmar skin creases and the face in general, although Conversely, vasodilatation, or flushing, may produce a pink
absence of pallor does not exclude anaemia. Nail-bed pallor complexion, even in anaemia, and may be due to fever, heat,
lacks diagnostic value for predicting anaemia but is still often exercise, food, drugs and other neurological or hormonal
assessed by clinicians. In significant iron deficiency anaemia disturbances (Fig. 3.17 and Box 3.6). Facial plethora is caused
there may be additional findings of angular stomatitis, glossitis by raised haemoglobin concentration with elevated haematocrit
(Fig. 3.16), koilonychia (spoon-shaped nails) and blue sclerae. (polycythaemia); it may be primary or may indicate an underlying
28 • General aspects of examination

Fig. 3.18 Central cyanosis of the lips.

B B
Fig. 3.17 Flushing due to carcinoid syndrome. A Acute carcinoid Fig. 3.19 Scurvy. A Bleeding gums. B Bruising and perifollicular
flush. B Chronic telangiectasia. haemorrhages.

disease resulting in chronic hypoxia or excess erythropoietin sufficient to raise the capillary deoxyhaemoglobin concentration
production. Plethora of the head and neck only may indicate above 50 g/L (5 g/dL). Since the detection of cyanosis relies on
superior vena cava obstruction (p. 86). the presence of an absolute concentration of deoxyhaemoglobin,
it may be absent in anaemic or hypovolaemic patients despite
Cyanosis the presence of hypoxia. Conversely, cyanosis may manifest
Cyanosis is a blue discoloration of the skin and mucous at relatively mild levels of hypoxia in polycythaemic patients.
membranes that occurs when the absolute concentration of
deoxygenated haemoglobin is increased. It can be difficult to Peripheral cyanosis
detect, particularly in black and Asian patients, but is most easily Peripheral cyanosis is seen in the distal extremities and may simply
seen where the subepidermal vessels are close to the skin surface, be a result of cold exposure, when prolonged peripheral capillary
as in the lips, mucous membranes, nose, cheeks, ears, hands flow allows greater oxygen extraction and hence increased levels
and feet. Rarely, cyanosis can be due to excessive circulating of deoxyhaemoglobin. As the patient is warmed and the circulation
methaemoglobin (which can be congenital or acquired, most improves, so does the cyanosis. Pathological causes of peripheral
often due to drug therapy) or sulphaemoglobin (usually due cyanosis include low cardiac output states, arterial disease and
to drug therapy), and typically does not resolve with oxygen venous stasis or obstruction.
administration.

Central cyanosis Characteristic skin changes


Central cyanosis can be seen in the lips, tongue and buccal or Characteristic skin changes also occur in other conditions such
sublingual mucosa (Fig. 3.18; see Fig. 5.12), and can accompany as scurvy (Fig. 3.19), neurofibromatosis (Fig. 3.20) and acanthosis
any disease (usually cardiac or respiratory) that results in hypoxia nigricans (see Fig. 10.15A).
Body habitus and nutrition • 29

3.7 The relationship between body mass index (BMI),


nutritional status and ethnic group
Nutritional status BMI non-Asian BMI Asian
Underweight < 18.5 < 18.5
Normal 18.5–24.9 18.5–22.9
3
Overweight 25–29.9 23–24.9
Obese 30–39.9 25–29.9
Morbidly obese ≥ 40 ≥ 30

both acute and chronic disease. The body mass index (BMI;
calculated from the formula weight(kg)/height(m)2) is more useful
than weight alone, as it allows for differing height. Normal values
for different ethnicities are available (Box 3.7).

Obesity
Obesity is associated with an increased risk of malignancy,
particularly oesophageal and renal cancer in both sexes, thyroid
and colon cancer in men, and endometrial and gallbladder cancer
Fig. 3.20 Neurofibromatosis. in women, as well as hypertension, hyperlipidaemia, type 2
diabetes mellitus, gastro-oesophageal reflux, gallbladder disease,
osteoarthritis and sleep apnoea. While it is usually the result of
excessive calorie intake relative to calories expended, it can
rarely be secondary to hypothyroidism, Cushing’s syndrome,
Tongue hypothalamic disease or drugs such as oral hypoglycaemic
agents, insulin and antipsychotics.
In addition to revealing central cyanosis, examination may uncover Note the distribution of fat, since central obesity (as judged
the smooth tongue of iron deficiency (see Fig. 3.16), enlargement by the waist circumference: the maximum abdominal girth at the
in acromegaly, or wasting and fasciculation in motor neurone midpoint between the lower costal margin and the iliac crest)
disease. correlates with increased visceral adiposity and has worse
health outcomes due to its association with hypertension, insulin
resistance, type 2 diabetes mellitus and coronary artery disease.
Odours Waist-to-hip ratio can also be a useful assessment of adipose
distribution: gluteal–femoral obesity or the ‘pear shape’ (waist : hip
Odours can provide clues to a patient’s social or behavioural ratio of ≤ 0.8 in females or < 0.9 in males) has a better prognosis,
habits; the smell of alcohol, tobacco or cannabis may be readily whereas ‘apple-shaped’ patients with a greater waist : hip ratio
apparent. Stale urine and anaerobic skin infections also produce have an increased risk of coronary artery disease and the
distinctive smells. Halitosis (bad breath) can be due to poor ‘metabolic syndrome’.
dental hygiene, gingivitis, stomatitis, atrophic rhinitis, tumours
of the nasal passages or suppurative lung conditions such as Weight loss
lung abscess or bronchiectasis. Weight loss or malnutrition (p. 94) may be due to inadequate
Other characteristic odours include: energy consumption or utilisation (such as malabsorption,
• ketones: a sweet smell (like nail varnish remover) due to anorexia, glycosuria) or to conditions in which nutritional demand
acetone in diabetic ketoacidosis or starvation is increased (such as fever, infection, thyrotoxicosis, malignancy,
• fetor hepaticus: the stale, ‘mousy’ smell of the volatile surgery). Psychiatric disease and alcohol or drug dependency
amine dimethylsulphide in patients with liver failure may also result in weight loss. Useful markers of malnutrition
• uraemic fetor: a fishy or ammoniacal smell on the breath in include arm muscle circumference and grip strength. Malnutrition
uraemia may also be associated with biochemical and physical evidence
• foul-smelling belching in patients with gastric outlet of hypoproteinaemia and/or vitamin deficiencies. Malnutrition
obstruction lengthens recovery time from illness and surgery, and delays
• a faecal smell in patients with gastrocolic fistula. wound healing.

Stature
Body habitus and nutrition
Short stature
Weight Short stature may reflect general nutritional state or significant
illness during childhood, although it may be familial (ask about
Weight is an important indicator of general health and nutrition, the height of the patient’s parents and siblings; p. 310). Loss of
and serial weight measurements can be useful in monitoring height is part of normal ageing but is accentuated by compression
30 • General aspects of examination

fractures of the spine due to osteoporosis, particularly in women.


In postmenopausal women, loss of > 5 cm height is an indication
Hydration
to investigate for osteoporosis.
Assessment of a patient’s hydration is particularly important,
Tall stature especially in the acutely unwell patient. Look for evidence of
dehydration or generalised oedema (pp. 240 and 244).
Tall stature is less common than short stature and is usually
familial. Most individuals with heights above the 95th centile
are not abnormal so ask about the height of close relatives.
Localised oedema
Pathological causes of increased height include Marfan’s Localised oedema (an excess of interstitial fluid) is most commonly
syndrome, prepubertal hypogonadism and gigantism. In Marfan’s caused by venous disease but may also develop in lymphatic,
syndrome the limbs are long in relation to the length of the trunk, inflammatory or allergic disorders.
and the arm span exceeds height (Fig. 3.21A). Additional features
include long, slender fingers (arachnodactyly; Fig. 3.21B), narrow Venous causes
feet, a high-arched palate (Fig. 3.21C), upward dislocation of Increased venous pressure raises hydrostatic pressure within
the lenses of the eyes (Fig. 3.21D), cardiovascular abnormalities capillaries, producing oedema in the area drained by that vein.
such as mitral valve prolapse, and dilatation of the aortic root Venous causes include deep vein thrombosis, external pressure
with aortic regurgitation. from a tumour or pregnancy, or venous valvular incompetence
During puberty, the epiphyses close in response to stimulation from previous thrombosis or surgery (Fig. 3.22). Conditions that
from the sex hormones, so in some patients with hypogonadism impair the normal muscle pumping action, such as hemiparesis
the limbs continue to grow for longer than usual (as in Klinefelter’s and forced immobility, increase venous pressure by impairing
syndrome). Gigantism is a very rare cause of tall stature due to venous return. As a result, oedema may occur in immobile,
excessive growth hormone secretion (from a pituitary adenoma) bed-ridden patients, in a paralysed limb, or in a healthy person
before epiphyseal fusion has occurred. sitting for long periods such as during travel.

A C

B D
Fig. 3.21 Marfan’s syndrome, an autosomal dominant condition. A Tall stature, with the torso shorter than the legs (note surgery for aortic
dissection). B Long fingers. C High-arched palate. D Dislocation of the lens in the eye. (A–D) From Forbes CD, Jackson WF. Color Atlas of Clinical
Medicine. 3rd edn. Edinburgh: Mosby; 2003.
Lumps and lymph nodes • 31

Fig. 3.24 Angio-oedema following a wasp sting.

3.8 Features to note in any lump or swelling (SPACESPIT)

Fig. 3.22 Swollen right leg, suggesting deep vein thrombosis or • Size • Pulsation, thrills and bruits
inflammation. Causes include soft tissue infection or a ruptured • Position • Inflammation:
Baker’s cyst. • Attachments • Redness
• Consistency • Tenderness
• Edge • Warmth
• Surface and shape • Transillumination

Inflammatory causes
Any cause of tissue inflammation, including infection or injury,
liberates mediators such as histamine, bradykinin and cytokines,
which cause vasodilatation and increase capillary permeability.
Inflammatory oedema is accompanied by the other features of
inflammation (redness, tenderness and warmth) and is therefore
painful.

Allergic causes
Increased capillary permeability occurs in acute allergic conditions:
for example, an insect bite in an allergic individual. The affected
area is usually red and pruritic (itchy) because of local release
of histamine and other inflammatory mediators but, in contrast
to inflammation, is not painful.
Angio-oedema is a severe form of allergic oedema affecting
the face, lips and mouth, most commonly caused by insect bites,
Fig. 3.23 Lymphoedema of the right arm following right-sided food allergy or drug reactions (Fig. 3.24). Swelling may develop
mastectomy and radiotherapy. rapidly and become life-threatening if the upper airway is involved.

Lymphatic causes Lumps and lymph nodes


Normally, interstitial fluid returns to the central circulation via the
Patients often present with a lump or enlarged lymph nodes
lymphatic system. Any obstruction to lymphatic flow may produce
(lymphadenopathy), which, while usually benign, can herald a
localised oedema (lymphoedema; Fig. 3.23). If the condition
serious underlying infective or malignant process. Alternatively,
persists, fibrous tissue proliferates in the interstitial space and
when examining a patient you may find a lump of which they
the affected area becomes hard and no longer pits on pressure.
were unaware.
In the UK the most common cause of chronic leg lymphoedema
is congenital hypoplasia of leg lymphatics (Milroy’s disease); in
Lumps
the arm, lymphoedema usually follows radical mastectomy and/
or irradiation for breast cancer. Lymphoedema is common in Ask about the rapidity of onset of the lump and the presence of
some tropical countries because of lymphatic obstruction by any associated pain, tenderness or colour change. Document
filarial worms (elephantiasis). the following features (Box 3.8):
32 • General aspects of examination

Size Inflammation
Measure the size of any lump (preferably using callipers). Redness, tenderness and warmth suggest inflammation:
• Redness (erythema): the skin over acute inflammatory
Position
lesions is usually red due to vasodilatation. In haematomas
The source of some lumps may be obvious from position, such the pigment from extravasated blood may produce the
as in the breast, thyroid or parotid gland; in other sites, such range of colours in a bruise (ecchymosis).
as the abdomen, this is less clear. Multiple lumps may occur in • Tenderness: inflammatory lumps such as boils or
neurofibromatosis (see Fig. 3.20), skin metastases, lipomatosis abscesses are usually tender or painful, while non-inflamed
and lymphomas. swellings such as lipomas, skin metastases and
Attachment neurofibromas are characteristically painless.
• Warmth: inflammatory lumps and some tumours,
Malignant masses commonly infiltrate adjacent tissues, causing
especially if rapidly growing, may feel warm due to
them to feel fixed and immobile.
increased blood flow.
Lymphatic obstruction may cause skin swelling with fine
dimpling where the skin is tethered by hair follicles, giving it an
Transillumination
‘orange peel’ appearance (peau d’orange; see Fig. 11.5). This
is common in malignant disease when attachment to deeper In a darkened room, press the lighted end of a pen torch on to
structures, such as underlying muscle, may also occur. one side of the swelling. A cystic swelling, such as a testicular
hydrocoele, will light up if the fluid is translucent, providing the
Consistency covering tissues are not too thick (see Fig. 15.9).
The consistency of a lump can vary from soft to ‘stony’ hard.
Very hard swellings are usually malignant, calcified or dense
fibrous tissue. Fluctuation indicates the presence of fluid, as in Examination sequence
an abscess, cyst or blister (Fig. 3.25), or in soft, encapsulated
tumours, such as lipoma. • Inspect the lump, noting any change in the colour or
texture of the overlying skin.
Edge • Define the site and shape of the lump.
The margin may be well delineated or ill defined, regular or • Measure its size and record the findings diagrammatically.
irregular, and sharp or rounded. The margins of enlarged organs, • Gently palpate for tenderness or change in skin
such as the thyroid gland, liver, spleen or kidney, can usually temperature.
be defined more clearly than those of inflammatory or malignant • Feel the lump for a few seconds to determine if it is
masses. An indefinite margin suggests infiltrating malignancy, in pulsatile.
contrast to the clearly defined edge of a benign tumour. • Assess the consistency, surface texture and margins of
the lump.
Surface and shape
• Try to pick up an overlying fold of skin to assess whether
The surface and shape of a swelling can be characteristic. In the lump is fixed to the skin.
the abdomen, examples include an enlarged spleen or liver, • Try to move the lump in different planes relative to the
a distended bladder or the uterine fundus in pregnancy. The surrounding tissues to see if it is fixed to deeper
surface may be smooth or irregular: for example, the surface structures.
of the liver is smooth in acute hepatitis but is often nodular in • Compress the lump on one side; see and feel if a bulge
metastatic disease. occurs on the opposite side (fluctuation). Confirm the
Pulsations, thrills and bruits fluctuation in two planes. Fluctuation usually indicates that
the lump contains fluid, although some soft lipomas can
Arterial swellings (aneurysms) and highly vascular tumours are
feel fluctuant.
pulsatile, expanding in time with the arterial pulse. Other swellings
• Auscultate for vascular bruits.
may transmit pulsation if they lie over a major blood vessel. If the
• Transilluminate.
blood flow through a lump is increased, a systolic murmur (bruit)
may be auscultated; occasionally, with sufficient flow, a thrill may Lymph nodes
be palpable. Bruits are also heard over arterial aneurysms and
arteriovenous malformations due to turbulent flow. Palpable lymphadenopathy (enlarged peripheral lymph nodes)
may be local or generalised, and is of diagnostic and prognostic
significance in the staging of lymphoproliferative and other
malignancies. Lymph nodes may also be palpable in normal
people, especially in the submandibular, axilla and groin regions
(Fig. 3.26).
As with any lump, note the size and position of the nodes
(normal nodes in adults are < 0.5 cm in diameter) and assess
fixation to deeper structures (lymph nodes fixed to deep structures
or skin suggest malignancy). Assess consistency: normal nodes
feel soft. In Hodgkin’s lymphoma, they are characteristically
‘rubbery’, in tuberculosis they may be ‘matted’, and in metastatic
cancer they feel hard. Acute viral or bacterial infection, including
infectious mononucleosis, dental sepsis and tonsillitis, causes
Fig. 3.25 Blister on a leg. tender, variably enlarged lymph nodes.
Lumps and lymph nodes • 33

  

  



   3
 

 
 

  

  


 


  
  
  


  

 


    
     
   
Fig. 3.26 Distribution of palpable lymph glands.

• From the front of the patient, palpate the posterior


Examination sequence triangles, up the back of the neck and the posterior
auricular and occipital nodes (Fig. 3.27C).
General principles
• Inspect for visible lymphadenopathy. Axillary nodes
• Palpate one side at a time, using the fingers of each hand • To palpate the right axilla, support the patient’s right arm
in turn. with your right arm to relax their shoulder muscles and
• Compare with the nodes on the contralateral side. explore the axilla with your left hand (Fig. 3.28A; follow a
• Assess: mirror image for other side).
• Site • Gently place your fingertips into the apex of the axilla and
• Size. then draw them downwards, feeling the medial, anterior
• Determine whether the node is fixed to: and posterior axillary walls in turn.
• Surrounding and deep structures
• Skin.
Epitrochlear nodes
• Support the patient’s right wrist with your left hand, hold
• Check consistency.
their partially flexed elbow with your right hand, and use
• Check for tenderness.
your thumb to feel for the epitrochlear node. Examine the
left epitrochlear node with your left thumb (Fig. 3.28B).
Cervical nodes
• Examine the cervical and axillary nodes with the patient Inguinal nodes
sitting. • Examine for the inguinal and popliteal nodes with the
• From behind, examine the submental, submandibular, patient lying down.
preauricular, tonsillar, supraclavicular and deep cervical • Palpate over the horizontal chain, which lies just below the
nodes in the anterior triangle of the neck (Fig. 3.27A). inguinal ligament, and then over the vertical chain along
• Palpate for the scalene nodes by placing your index finger the line of the saphenous vein (Fig. 3.28C).
between the sternocleidomastoid muscle and clavicle. Ask If you find localised lymphadenopathy, examine the areas
the patient to tilt their head to the same side and press that drain to that site. Infection commonly causes lymphadenitis
firmly down towards the first rib (Fig. 3.27B). (localised tender lymphadenopathy); in acute tonsillitis, for example,
34 • General aspects of examination

A B C
Fig. 3.27 Palpation of the cervical glands. A Examine the glands of the anterior triangle from behind, using both hands. B Examine for the scalene
nodes from behind with your index finger in the angle between the sternocleidomastoid muscle and the clavicle. C Examine the glands in the posterior
triangle from the front.

A B C
Fig. 3.28 Palpation of the axillary, epitrochlear and inguinal glands. A Examination for right axillary lymphadenopathy. B Examination of the left
epitrochlear glands. C Examination of the left inguinal glands.

Spot diagnoses
Several disorders have characteristic physical or facial features
(Box 3.9) that allow a diagnosis to be made by observation
alone. These conditions, together with those that have a
more generalised distinctive physical phenotype, are often
over-represented in candidate assessments, where they are
referred to as ‘spot diagnoses’.
Osteogenesis imperfecta is an autosomal dominant condition
causing fragile and brittle bones; the sclerae (Fig. 3.30A) are blue
due to abnormal collagen formation. Hereditary haemorrhagic
telangiectasia is an autosomal dominant condition associated
with small, dilated capillaries or terminal arteries (telangiectasia),
most commonly on the lips and tongue (Fig. 3.30B). In systemic
Fig. 3.29 Petechiae. sclerosis the skin is thickened and tight, causing loss of the normal
wrinkles and skin folds, ‘beaking’ of the nose, and narrowing
and puckering of the mouth (Fig. 3.30C). Myotonic dystrophy,
the submandibular nodes are involved. If the lymphadenopathy is mentioned previously in the context of delayed relaxation of
non-tender, look for a malignant cause, tuberculosis or features grip after a handshake, is an autosomal dominant condition
of human immunodeficiency virus (HIV) infection. Generalised with characteristic features of frontal balding and bilateral ptosis
lymphadenopathy occurs in a number of conditions, including (Fig. 3.30D).
lymphoma, tuberculosis, HIV and systemic inflammatory disorders
such as sarcoidosis. Examine for enlargement of the liver and Major chromosomal abnormalities
spleen, and for other haematological features such as purpura
(bruising under the skin), which can be large (ecchymoses) or There are several genetic or chromosomal syndromes that are
pinpoint (petechiae; Fig. 3.29). easily identified on first contact with the patient.
Spot diagnoses • 35

3.9 Conditions with characteristic facial appearances


Diagnosis Facial features
Hypothyroidism Sparse, coarse hair and eyebrows, periorbital puffiness, dry, waxy skin, apathetic expression,
(see Fig. 10.5) macroglossia 3
Graves’ disease (autoimmune thyrotoxicosis) Staring appearance due to lid retraction, proptosis, evidence of weight loss
(see Fig. 10.2A)
Hypopituitarism Pale, often unwrinkled skin with loss of hair
(see Fig. 10.10A)
Acromegaly Thickened, coarse skin with enlarged nose and frontal bones, prognathism (lower jaw protrusion),
(see Fig. 10.9A) widely spaced teeth, macroglossia
Cushing’s syndrome Moon-shaped plethoric facies
(see Fig. 10.11A)
Osteogenesis imperfecta Blue sclerae
(see Fig. 3.30A)
Hereditary haemorrhagic telangiectasia Telangiectasia on and around lips
(see Fig. 3.30B)
Systemic sclerosis Tight skin constricting mouth, ‘beaking’ of nose, loss of nasolabial folds
(see Fig. 3.30C)
Myotonic dystrophy Frontal balding, paucity of expression, bilateral ptosis
(see Fig. 3.30D)
Down’s syndrome Flat facial profile, up-slanting palpebral fissures, small, low-set ears, macroglossia, Brushfield
(see Fig. 3.31) spots in iris
Systemic lupus erythematosus ‘Butterfly’ erythematous rash on cheeks

A C

D
Fig. 3.30 Characteristic facial features of some disorders. A Blue sclerae of osteogenesis imperfecta. B Telangiectasia around the mouth, typical of
hereditary haemorrhagic telangiectasia. C Systemic sclerosis with ‘beaking’ of the nose and taut skin around the mouth. D Myotonic dystrophy with
frontal balding and bilateral ptosis.
36 • General aspects of examination

Fig. 3.31 Down’s syndrome.


A Typical facial appearance.
B Brushfield spots: grey–white
areas of depigmentation in the
iris. C Single palmar crease.
A From Kerryn Phelps, Craig
Hassed; Genetic conditions.
In General Practice: The
Integrative Approach, 1e,
A B C Churchill Livingstone; 2011.

Fig. 3.32 Turner’s syndrome. From Henry M. Seidel, Jane Ball, Joyce
Dain, G. William Benedict. Growth and measurement. In: Mosby’s Guide to
Physical Examination, 6e; 2006.

Fig. 3.33 Child with achondroplasia. From Keith L. Moore, T. V. N.


Down’s syndrome (trisomy 21 – 47XX/XY + 21) Persaud. Congenital Anatomic Anomalies or Human Birth Defects. in the
Developing Human: Clinically Oriented Embryology, 8e; 2008.
Down’s syndrome is characterised by typical physical features,
including short stature, a small head with flat occiput, up-slanting
palpebral fissures, epicanthic folds, a small nose with a poorly finger, increased carrying angle at the elbows and widely spaced
developed bridge and small, low-set ears (Fig. 3.31A). Grey–white nipples (‘shield-like chest’).
areas of depigmentation are seen in the iris (Brushfield spots;
Fig. 3.31B). The hands are broad with a single palmar crease
Klinefelter’s syndrome (47XXY)
(Fig. 3.31C), the fingers are short and the little finger is curved. This chromosomal abnormality results in tall stature, gynaecomastia,
Trisomy 21 is also associated with characteristic cognitive, cardiac, reduced pubic hair and small testes (see Fig. 10.13). It is the most
gastrointestinal, ophthalmic, ocular, endocrine and haematological common cause of primary hypogonadism in men.
disorders, for which patients should be screened.
Achondroplasia
Turner’s syndrome (45XO)
This is an autosomal dominant disease of cartilage caused by
Turner’s syndrome (Fig. 3.32) is due to loss of an X chromosome. mutation of the fibroblast growth factor gene. Although the trunk
It occurs in 1: 2500 live female births and is a cause of delayed is of normal length, the limbs are very short and broad (Fig.
puberty in girls. Typical features include short stature, webbing 3.33). The vault of the skull is enlarged, the face is small and
of the neck, small chin, low-set ears, low hairline, short fourth the bridge of the nose is flat.

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