title: Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant.
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.
authors.affiliation: Department of Pathology, Louisiana State University Health Science Center, New Orleans, Louisiana 70118, USA.
authors.forename: Robin R
authors.initials: RR
authors.lastname: McGoey
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D002493:Central Nervous System Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics; D004827:Epilepsy / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000235:genetics*; D035781:Siblings; D013577:Syndrome