Grebe syndrome: a second case with extremely severe manifestations.

ous couple (first cousins once removed) of Italian ancestry. The family history was unremarkable and the pregnancy had been uneventful. Clinical examination showed marked micrognathia, a normal neck and trunk, and shortening of all four limbs, the lower being more severely affected than the upper. The shortening was progressive, from proximal to distal, the fingers were bud-like (fig 2), the lower limbs very short, the hips abnormally jointed, and there was no clear limit between the thighs and legs. Distally, close to the ankles, there were osseous spurs protruding bilaterally. The feet were internally rotated and the toes, as well as the fingers, were knob-like (fig 3). Figure 2 Upper limbs. Note bulbous digits.