title: Adams-Oliver syndrome: further evidence of an autosomal recessive variant.
abstract: Adams-Oliver syndrome is characterized by aplasia cutis congenita and variable degrees of terminal transverse limb defects. Other associated anomalies were described in the syndrome. Most described cases follow an autosomal dominant pattern of inheritance. Sporadic and autosomal recessive cases, however, were reported. In this study, we report on three Egyptian patients with Adams-Oliver syndrome from three different families. The parents were normal and consanguineous in all three families. There was history of similarly affected sibs for two cases. These findings denote autosomal recessive inheritance. The reported cases had typical skull and limb anomalies with cutis marmorata telangiectatica congenita. We observed additional rare manifestations in the form of microcephaly, psychomotor retardation, epilepsy, eye anomalies and atrophic skin lesions. MRI of the brain in one of the studied cases revealed retrocerebellar cyst and mild asymmetrical cerebellar hypoplasia, which to our knowledge, were not previously reported in Adams-Oliver syndrome. The results of this study provide further evidence of clinical and genetic heterogeneity and support the presence of autosomal recessive variant of Adams-Oliver syndrome.
authors.affiliation: Clinical Genetics Department, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
authors.forename: Samia A
authors.initials: SA
authors.lastname: Temtamy
authors.forename: Mona S
authors.initials: MS
authors.lastname: Aglan
authors.forename: Adel M
authors.initials: AM
authors.lastname: Ashour
authors.forename: Maha S
authors.initials: MS
authors.lastname: Zaki
mesh_terms: D000005:Abdomen / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D005808:Genes, Recessive / Q000235:genetics*; D018740:Genetic Heterogeneity; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome