title: Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect.
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.
authors.affiliation: Department of Human Genetics, University of Cape Town, Medical School, South Africa.
authors.forename: C
authors.initials: C
authors.lastname: Wallis
authors.forename: S
authors.initials: S
authors.lastname: Zieff
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
mesh_terms: 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*