[Joint occurrence of congenital ring constrictions and limb amputations with craniofactial dysmorphia (author's transl)].
A case of an infrequent congenital malformation, partial ring constrictions on fingers and toes and their amputation associated with cleft lip, facial cleft, microphthalmus and hydrocephalus is described. The etiology of the congenital malformation is discussed. Based on the literature, the question is put forward whether an increase in the frequency of this malformation could be connected to the more frequent use of amniocentesis.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology; D000649:Amniocentesis / Q000009:adverse effects; D002648:Child; D002971:Cleft Lip / Q000150:complications; D003394:Craniofacial Dysostosis / Q000150:complications; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D008850:Microphthalmos / Q000150:complications; D014034:Toes / Q000002:abnormalities
Uber das gemeinsame Auftreten von angeborenen kreisrunden Abschnürungen und Gliedamputationen mit craniofacialer Dysmorphie.