[Acrocephalopolysyndactyly (type II (McKusick) acrocephalosyndactyly or Carpenter's syndrome. Report on 4 cases and an observation of the syndrome of Marshall-Smith (author's transl)].
Four observations of Carpenter's Syndrome, two siblings and two unrelated children, and a case of Marshall-Smith's Syndrome are reported, all sharing duplication of the terminal phalanx of the big toe and a dyskephaly. Carpenter's Syndrome has been noted in at least 27 cases inheritance; is autosomalcessive. Main features are: oxycephaly, odd facies, brachyclinosyndactyly of the hands, polysyndactyly of the feet, cardiac malformation. The question is to be answered whether all cases are genetically identical.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000293:Adolescent; D002648:Child; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography
Akrozephalopolysyndaktylie (Akrozephalosyndaktylie, Typ II McKusick (Carpenter-Syndrom). Bericht über 4 Fälle und eine Beobachtung des Typs von Marshall-Smith