Premium
A case of Adams–Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology?
Author(s) -
Piazza Anthony Joseph,
Blackston Dwain,
Sola Augusto
Publication year - 2004
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.30210
Subject(s) - medicine , corpus callosum , pulmonary hypertension , pathology , pathophysiology , central nervous system , white matter , leukoencephalopathy , vascular disease , vascular malformation , cardiology , magnetic resonance imaging , surgery , disease , radiology
We report on a case of Adams–Oliver syndrome (AOS) with typical skin and limb defects along with the unique findings of pulmonary hypertension and central nervous system (CNS) involvement. Adams–Oliver 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. © 2004 Wiley‐Liss, Inc.