| Literature DB >> 3354597 |
C P Koiffmann1, A Wajntal, B J Huyke, R M Castro.
Abstract
We describe a man with manifestations of the Adams-Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first-cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discussed.Entities:
Mesh:
Year: 1988 PMID: 3354597 DOI: 10.1002/ajmg.1320290203
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299