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.
X rays showed vertebral clefts in thoracic spine
(Figures 2 & 3), flared metaphyses and large
epiphyses in femur and tibia (Figure 4).
Expressed breast milk fed using a long teat corrected
weight loss and constipation. Cleft palate repair was
planned for nine months of age. Herniotomy was
performed. On follow up at four months he had
satisfactory weight gain and normal development.
