Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 4, Pages 488-491Publisher
WILEY
DOI: 10.1002/ajmg.a.32163
Keywords
Adams-Oliver syndrome; limb reduction defect; cutis aplasia; autosomal recessive; central nervous system; epilepsy
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Adanis-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. (c) 2008 Wiley-Liss, Inc.
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