11 year old boy with delayed development, poor intellectual ability, abdominal distension and coarse facial features since birth
Frontal and lateral radiographs of the skull show a ‘J’ shaped sella . Radiographs of the dorsolumbar spine show a hypoplastic L1 vertebra with antero-inferior vertebral beaking. The ribs have an "oar" shape. Radiographs of the bony pelvis, both the lower and upper limbs show medial beaking of the proximal humerus and femur, comma shaped iliac bones and proximally pointed, shortened metacarpals.