Transverse limb defects associated with aorto-pulmonary vascular abnormalities: Vascular disruption sequence or atypical presentation of Adams-Oliversyndrome

We report a patient with terminal transverse limb defects associated with p ersistent primitive aorto-pulmonary vascular connections leading to supra-s ystemic pulmonary artery pressure. It is likely that this patient represent s a vascular disruption sequence or as an alternative a form of Adams-Olive r syndrome. These assumptions are based only on the association of vascular abnormalities as an emerging and apparently important association with tra nsverse limb defects despite the absence of aplasia cutis congenita commonl y associated with Adams-Oliver syndrome. Am. J. Med. Genet. 94: 400-404, 20 00. (C) 2000 Wiley-Liss, Inc.