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Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome
Author(s) -
Patel Millan S.,
Taylor Glenn P.,
Bharya Simi,
AlSanna'a Nouriya,
Adatia Ian,
Chitayat David,
Suzanne Lewis M.E.,
Human Derek G.
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.30221
Subject(s) - pericyte , pathogenesis , medicine , pulmonary hypertension , autopsy , pathology , cardiology , endothelial stem cell , biology , genetics , in vitro
Abstract Adams–Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects of unknown pathogenesis. We report on two children with AOS plus additional features including intrauterine growth retardation (IUGR), cutis marmorata telangiectatica congenita (CMTC), pulmonary hypertension (PH), intracranial densities shown in one case to be sites of active bleeding and osteopenia. Autopsy in one case revealed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with two blood vessel abnormalities. Pericyte absence correlated with vessel dilatation while hyperproliferation of pericytes correlated with vessel stenosis. These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH. © 2004 Wiley‐Liss, Inc.