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Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant
Author(s) -
McGoey Robin R.,
Lacassie Yves
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32163
Subject(s) - epilepsy , aplasia , medicine , genetic heterogeneity , genetic syndromes , central nervous system , genetics , pediatrics , biology , neuroscience , anatomy , phenotype , gene
Adams–Oliver syndrome (AOS) is a well‐known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention made to the possible existence of an autosomal recessive variant of AOS. We report on sisters as the ninth report of such an autosomal recessive‐variant and review previously published similar sibships for observed comparisons relative to clinical features. Review of these cases is initially suggestive of an increased frequency of both central nervous system involvement as well as epilepsy in the autosomal recessive variant of AOS. Full case reports and a review of neurological involvement in the autosomal recessive AOS cases are presented. © 2008 Wiley‐Liss, Inc.