Heptacarpo-octatarso-dactyly combined with multiple malformation.
A case of heptacarpo-octatarso-dactyly combined with cheilo-gnatho-palato-schisis, hypertelorism, macroglossia, complex malformations of heart and great vessels, horse-shoe-kidney, micro-penis, and penis palmatus is described. To our knowledge, this syndrome has not yet been described in the literature. Some of the features of the case reported overlap with syndromes such as Grauhan syndrome and Meckel syndrome.
D000015:Abnormalities, Multiple; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities; D011859:Radiography