An exceptional genetic syndrome of characteristic rhizomelic short stature and lateral clavicular defect.
One case report of an affected mother and son exists.
Most likely autosomal dominant inheritance.
Features include rhizomelic limbs (most pronounced in the arms) and short stature, lateral clavicular defects (consisting of a bifid appearance of the lateral clavicular third caused by an abnormal process arising from the fusion center visible as bony cranial protuberances over the lateral third of the clavicle). The humeri were relatively short, and the femora were thick and abnormally modeled. Hand anomalies included broad proximal and middle phalanges, hypoplasia of the middle phalanges of the fifth fingers, bilateral clinodactyly, and simian crease.
Precautions before anesthesia
Routine preoperative assessment is considered adequate.
Subclavian central venous access could be difficult secondary to the clavicular anomalies, although the defect mainly affects the lateral third of the clavicle. Careful intraoperative positioning is needed. No other specific anesthetic considerations are expected to arise from this disorder.
None specific to this disorder.
J: Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect. Am J Med Genet