[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)]

Klin Padiatr. 1977 Mar;189(2):120-30.
[Article in German]

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Acrocephalosyndactylia / diagnosis*
  • Acrocephalosyndactylia / diagnostic imaging
  • Acrocephalosyndactylia / genetics
  • Adolescent
  • Child
  • Female
  • Heart Defects, Congenital / complications
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Radiography