Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?
We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000150:complications* / Q000235:genetics; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*