Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect.
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.
Wallis
C
C
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Zieff
S
S
Goldblatt
J
J
D000328:Adult; D001827:Body Height; D002968:Clavicle / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006621:Hip Joint / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012785:Shoulder Joint / Q000002:abnormalities*