Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.
Two sibs with a rare phenotype of oligodactyly with metacarpal, carpal, radioulnar, and metatarsal synostoses and shortening of the forearms were born of healthy parents. Genetic counselling with regard to future children of one of these sibs was given on the assumption of an autosomal recessive inheritance, which is highly probable, judging from the other rare familial cases found in the literature.
D000328:Adult; D005260:Female; D005542:Forearm / Q000002:abnormalities*; D005808:Genes, Recessive; D005817:Genetic Counseling; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*