title: Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis.
abstract: 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.
authors.affiliation: Section of Respiratory Medicine, Hospital S. Maria della Pietà, Casoria, Naples, Italy. mauromaniscalco@hotmail.com
authors.forename: Mauro
authors.initials: M
authors.lastname: Maniscalco
authors.forename: Anna
authors.initials: A
authors.lastname: Zedda
authors.forename: Stanislao
authors.initials: S
authors.lastname: Faraone
authors.forename: Guglielmo
authors.initials: G
authors.lastname: de Laurentiis
authors.forename: Raffaele
authors.initials: R
authors.lastname: Verde
authors.forename: Valerio
authors.initials: V
authors.lastname: Molese
authors.forename: Gaetano
authors.initials: G
authors.lastname: Lapiccirella
authors.forename: Matteo
authors.initials: M
authors.lastname: Sofia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001165:Arteriovenous Malformations / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D004730:Endothelium, Vascular / Q000473:pathology / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008168:Lung / Q000098:blood supply*; D008297:Male; D010375:Pedigree; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome