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Association of Adams–Oliver syndrome with pulmonary arterio‐venous malformation in the same family: A further support to the vascular hypothesis
Author(s) -
Maniscalco Mauro,
Zedda Anna,
Faraone Stanislao,
Laurentiis Guglielmo de,
Verde Raffaele,
Molese Valerio,
Lapiccirella Gaetano,
Sofia Matteo
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30828
Subject(s) - medicine , telangiectasia , pathogenesis , vascular malformation , vascular disease , klippel trenaunay syndrome , scalp , incidence (geometry) , pathology , cardiology , dermatology , surgery , soft tissue , physics , optics
Adams–Oliver syndrome (AOS) is a rare disease characterized by congenital scalp defects, terminal transverse limb defects and cutis marmorata telangiectatica. A significant incidence of cardiac and vascular malformations has been reported, leading to the hypothesis of a vascular defect early involved in the pathogenesis. We report two members of the same family with previously diagnosed AOS based on clinical phenotype and later recognized to have pulmonary arterio‐venous malformation (PAVM). None of the subjects fulfilled current diagnostic criteria of hereditary hemorrhagic telangiectasia, which is the most common cause of PAVM. The occurrence of PAVM in AOS lends support to the hypothesis that endothelial specific abnormalities could be a patho‐physiological mechanism in its development. Therefore, the role of screening for PAVM in clinical management of subjects with AOS should deserve further studies. © 2005 Wiley‐Liss, Inc.