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Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect
C Wallis1, S Zieff, J Goldblatt
1Department of Human Genetics, University of Cape Town, Medical School, South Africa.
American Journal of Medical Genetics
|December 1, 1988
Abstract:
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.