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PubMed1977

[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.

Abnormalities, Multiple↗