Cleidorhizomelic Syndrome

An exceptional genetic syndrome of characteristic rhizomelic short stature and lateral clavicular defect.

Wallis-Zieff-Goldblatt Syndrome.

One case report of an affected mother and son exists. Probably autosomal dominant inheritance.

Features include rhizomelic short stature, lateral clavicular defect (consisting of a bifid appearance of the lateral third caused by an abnormal processus arising from the fusion center), broad proximal and middle phalanges, and hypoplasia of the middle phalanges of the fifth fingers.

Careful intraoperative positioning is needed. Subclavian central venous access could be difficult secondary to clavicular anomalies.