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Adams\u2013Oliver syndrome has a wide spectrum of physical anomalies ranging from characteristic aplasia cutis congenita (ACC), transverse limb defects, and cutis marmorata telangiectica to extensive lethal anomalies. While pulmonary hypertension is usually not associated with AOS, the abnormal endothelial regulation of vascular tone seen in the pulmonary vasculature may enhance current pathophysiologic concepts of vascular abnormalities in AOS. There is accumulating evidence of significant CNS defects in AOS. This infant had hypoplastic corpus callosum and focal findings in the periventricular white matter. Evaluation for pulmonary hypertension and CNS anomalies in patients suspected to have AOS, can help identify those who are at risk for acute morbidities and associated developmental delays. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30210","type":"journal-article","created":{"date-parts":[[2004,9,15]],"date-time":"2004-09-15T22:00:28Z","timestamp":1095285628000},"page":"172-175","source":"Crossref","is-referenced-by-count":26,"title":["A case of Adams\u2013Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology?"],"prefix":"10.1002","volume":"130A","author":[{"given":"Anthony 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