An exceptional genetic syndrome of characteristic
rhizomelic short stature and lateral clavicular defect.
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
Careful intraoperative positioning is
needed. Subclavian central venous access could be difficult secondary to
Wallis C, Zieff S, Goldblatt J: Newly recognized autosomal dominant
syndrome of rhizomelic shortness with clavicular defect. Am J Med Genet