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An exceptional genetic syndrome of characteristic
rhizomelic short stature and lateral clavicular defect.
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Wallis-Zieff-Goldblatt Syndrome.
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One case report of an affected
mother and son exists. Probably autosomal dominant inheritance.
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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.
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Careful intraoperative positioning is
needed. Subclavian central venous access could be difficult secondary to
clavicular anomalies.
Wallis C, Zieff S, Goldblatt J: Newly recognized autosomal dominant
syndrome of rhizomelic shortness with clavicular defect.
Am J Med Genet 31:881, 1988.
[PubMed: 3239579]