Cerebral cortical dysplasia and digital constriction rings in Adams-Oliversyndrome

Citation
R. Savarirayan et al., Cerebral cortical dysplasia and digital constriction rings in Adams-Oliversyndrome, AM J MED G, 86(1), 1999, pp. 15-19
Citations number
15
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
86
Issue
1
Year of publication
1999
Pages
15 - 19
Database
ISI
SICI code
0148-7299(19990903)86:1<15:CCDADC>2.0.ZU;2-F
Abstract
Adams-Oliver syndrome (AOS) is characterised by aplasia cutis congenita of the scalp and variable degrees of terminal transverse limb defects. Short f ingers and hypoplastic nails also occur in this predominantly autosomal dom inant syndrome which displays marked variability of expression and lack of penetrance in some cases. We describe a boy with AOS whose sister is also m ildly affected, Their mother has hypoplastic fifth toenails which may repre sent very mild expression of the syndrome. Brain (computed tomography) imag ing to investigate mild left hemiparesis in the boy demonstrated severe cor tical dysplasia of central, occipital and anterior regions of the right cer ebral hemisphere. A variety of brain and cranial malformations has been rep orted in AOS but dysplasia of the cerebral cortex has not been noted previo usly. In addition, the boy and his sister have apparent constriction rings present on the toes which are uncommon in AOS, Am, J, Med. Genet, 86:15-19, 1999. (C) 1999 Wiley-Liss, Inc.