Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant

American Journal of Medical Genetics. Part a
Robin R McGoey, Yves Lacassie

Abstract

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.

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Citations

Jun 2, 2011·Srpski arhiv za celokupno lekarstvo·Vladimir KuburovićSlobodan Gazikalović
Aug 24, 2010·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·M MessererA Hamlat
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Sep 17, 2008·American Journal of Medical Genetics. Part a·Eleftheria PapadopoulouMaria Kalmanti
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Dec 11, 2013·International Journal of Dermatology·Zekayi Kutlubay, Özer Pehlivan
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Jul 10, 2021·Birth Defects Research·Lewis B Holmes, Hanah Z Nasri
Nov 11, 2021·American Journal of Medical Genetics. Part a·Kitiwan RojnueangnitBoonchu Sirichongkolthong

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