title: Adams Oliver syndrome: a family with extreme variability in clinical expression.
abstract: We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families.
authors.affiliation: Department of Pediatrics, University of Alberta, Edmonton, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Bamforth
authors.forename: P
authors.initials: P
authors.lastname: Kaurah
authors.forename: J
authors.initials: J
authors.lastname: Byrne
authors.forename: P
authors.initials: P
authors.lastname: Ferreira
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001921:Brain / Q000002:abnormalities; D001980:Bronchi / Q000002:abnormalities; D004827:Epilepsy / Q000151:congenital; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome