A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations.
An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D008297:Male; D010375:Pedigree