SELF ASSESSEMENT QUESTIONS: Skeletal dysplasia with usual visceral manifestations.

The article presents a case of a 4.5 year old boy who was suffering from skeletal dysplasia. On examination, the child was grossly stunted. The height was 78 cm, weight 10 kg, and the head circumference 48 cm. The height and weight were markedly below the fifth percentile. The upper segment: lower segment ratio was 1.34:1 indicating proportionate short stature. On abdominal examination, the spleen was enlarged 13 cm below the left costal margin and the liver was palpable 5 cm below the right costal margin, both were firm and non-tender. Fundoscopy revealed bilateral papilloedema with no evidence of secondary optic atrophy. The rest of the systemic examination was normal.