Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.
The inheritance of Robinow's syndrome has been thought to be autosomal dominant. However, since no cases of male-to-male transmission have been reported, it has been impossible to rule out X-linked dominant inheritance. We studied a case of male-to-male transmission in a father and son with Robinow's syndrome and cleft lip-cleft palate, confirming autosomal dominant inheritance in at least some cases.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome