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Clinical diagnosis based on body habitus

First impression of a patient's appearance will  give certain clue that lead to diagnosis, but one should substantiate tha diagnosis by seeking for other signs on proper examination-these may be labelled as spotters.
Endocrine illness

  • Acromegaly-there is characteristic facies with acral enlargement
  • Gigantism-tall stature, bilateral acral enlargement and prognathism
  • Thyrotoxicosis-anxious look, bilateral proptosis, restlessness, thin built bodv ,tremor of hands
  • Myxedema-characteristic facies, dull expression and edema of legs
  • Cretinism-characteristic facies, dwarfism and protruding tongue
  • Addison's disease-hyperpigmentation, asthenia and thinning of body
  • Cushing's syndrome-moon face, plethoric face, striae, obesity-truncal obesity and buffalo hump
  • Pseudohypoparathyroidism-short stature,moon face and brachydactyly
  • Rickets-frontoparietal bossing, bowing of legs, delayed dentition

Auto immune disease

  • SLE characteristic facies-butterfly rash
  • PSS - characteristic facies-vitiligo-pepper and salt appearance, sclerodactyly, hyperpimentation, digits-telangiectasia, ulcers,pitted scars
  • Ankylosing spondylitis- posture of patient affected due to spine involvement, loss of lumbar lordosis, increased dorsal kyphosis and forward stoop of neck, flexion of hip and knee joints, limitation of spine movement

Neurological illness

  • Dystrophia myotonica-baldness with characteristic facies
  • Abnormal movement-chorea, athetosis, dyskinesia, tics,hemifacial spasm
  • Charcot marie tooth disease-peroneal muscular atrophy, inverted champagne bottle appearance of legs.


Syndromes with tall stature

  • Klinefelters syndrome-tall stature, absence secondary sexual characters, alopecia ± gynaecomastia
  • Marfan syndrome-tall stature, long thin extremities and arachnodactyly
  • Acromegaly
  • Gigantism


Syndrome with short stature

  • Turners syndrome-short stature, cubitus valgus webbing of neck and widely spaced nipple,shield like chest.
  • Achondroplasia-dwarfism, normal trunk short limbs especially proximal parts, macrocephaly, saddle nose, increased lumbar lordosis
  • Pseudohypoparathyroidism-short stature,moon face and brachydactyly


Other diseases
Mongolism -characteristic facies, mongoloid slant of eyes, protruded tongue with open mouth  hypotonic muscles, single transverse crease of hand
Mucopolysaccharoidosis-short stature, chraracteristic facies, joint stiffness, kyphoscoliosis

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