ADAMS-OLIVER-SYNDROME - AUTOSOMAL RECESSIVE INHERITANCE AND NEW PHENOTYPIC-ANTHROPOMETRIC FINDINGS

Citation
G. Klinger et P. Merlob, ADAMS-OLIVER-SYNDROME - AUTOSOMAL RECESSIVE INHERITANCE AND NEW PHENOTYPIC-ANTHROPOMETRIC FINDINGS, American journal of medical genetics, 79(3), 1998, pp. 197-199
Citations number
13
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
79
Issue
3
Year of publication
1998
Pages
197 - 199
Database
ISI
SICI code
0148-7299(1998)79:3<197:A-ARIA>2.0.ZU;2-X
Abstract
We describe a new family with Adams-Oliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib h ad SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive inheritance. New phenotypic-anthropometric finding s in one infant were upper limb micromelia and brachypodia. (C) 1998 W iley-Liss, Inc.