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1: Am J Med Genet. 1988 Dec;31(4):881-5.Links

Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect.

Wallis C, Zieff S, Goldblatt J.

Department of Human Genetics, University of Cape Town, Medical School, South Africa.

We report on a mother and son with an inherited skeletal disorder of rhizomelic short stature and lateral clavicular defects. This entity has apparently not been reported previously and represents a newly recognized autosomal dominant skeletal dysplasia.

PMID: 3239579 [PubMed - indexed for MEDLINE]