Abstract:
A breastfed male infant aged six weeks presented
with constipation and weight loss. He was the third
born to a 33 year old mother in a non-consanguineous
marriage. Both siblings were normal.
Abnormalities observed were: short length (crown-toheel
46cm), disproportionate body proportions, short
barrel shaped chest (Figure 1), a relatively large head,
kyphoscoliosis, enlarged knees and elbows with
limited range of active and passive movements, bilateral
inguinal herniae, flat facies, prominent eyes and
a wide posterior cleft palate. Cardiovascular, respiratory,
abdominal and neurological examinations were
normal.
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