PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “ACROCEPHALOSYNDACTYLIA”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 901 records · Page 50Linked to original sources
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↗