title: Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?
abstract: We report a patient with terminal transverse limb defects associated with persistent primitive aorto-pulmonary vascular connections leading to supra-systemic pulmonary artery pressure. It is likely that this patient represents a vascular disruption sequence or as an alternative a form of Adams-Oliver syndrome. These assumptions are based only on the association of vascular abnormalities as an emerging and apparently important association with transverse limb defects despite the absence of aplasia cutis congenita commonly associated with Adams-Oliver syndrome.
authors.affiliation: Divisions of Clinical and Metabolic Genetics, The Hospital For Sick Children, Toronto, Ontario, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Al-Sanna'a
authors.forename: I
authors.initials: I
authors.lastname: Adatia
authors.forename: A S
authors.initials: AS
authors.lastname: Teebi
mesh_terms: D001011:Aorta / Q000002:abnormalities*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D011651:Pulmonary Artery / Q000002:abnormalities*; D013577:Syndrome; D014652:Vascular Diseases / Q000151:congenital