Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis
Autor: | Matteo Sofia, G. Lapiccirella, Anna Zedda, Mauro Maniscalco, Raffaele Verde, Guglielmo de Laurentiis, Stanislao Faraone, Valerio Molese |
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Přispěvatelé: | Maniscalco, Mauro, Zedda, Anna, Faraone, Stanislao, de Laurentiis, Guglielmo, Verde, Raffaele, Molese, Valerio, Lapiccirella, Gaetano, Sofia, Matteo |
Rok vydání: | 2005 |
Předmět: |
Adult
Male medicine.medical_specialty Cutis marmorata Foot Deformities Congenital Arteriovenous Malformations Diagnosis Differential Internal medicine Genetics medicine Humans Abnormalities Multiple Telangiectasia Child Lung Genetics (clinical) Family Health Scalp business.industry Vascular disease Respiratory disease Arteriovenous Malformation Syndrome medicine.disease Pulmonary hypertension Pedigree medicine.anatomical_structure Cardiology Female Endothelium Vascular medicine.symptom business Rare disease Adams–Oliver syndrome Human |
Zdroj: | American journal of medical genetics. Part A. 136(3) |
ISSN: | 1552-4825 |
Popis: | 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. |
Databáze: | OpenAIRE |
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