Short thorax and disproportionate dwarf ism due to Kniest dysplasia

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