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Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams–Oliver syndrome
Author(s) -
Papadopoulou Eleftheria,
Sifakis Stavros,
Raissaki Maria,
Germanakis Ioannis,
Kalmanti Maria
Publication year - 2008
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.32410
Subject(s) - periventricular leukomalacia , medicine , lateral ventricles , hypotonia , aplasia , magnetic resonance imaging , fetus , ventriculomegaly , hypoplasia , pathology , anatomy , radiology , pregnancy , pediatrics , gestational age , biology , genetics
Abstract We describe a new family with Adams–Oliver syndrome (AOS). The propositus is a 14‐month‐old boy presenting with aplasia cutis congenita, distal limb transverse defects, growth retardation, and a wide atrial septal defect. Central nervous system abnormalities included central hypotonia, and magnetic resonance imaging (MRI) findings consistent with periventricular leukomalacia (PVL). Fetal MRI at 26 weeks' gestation had shown bilateral dilatation of lateral ventricles and periventricular cysts at the site of postnatal lesions. The patient's father and paternal grandfather also had manifestations indicative of AOS. Antenatal and postnatal MRI findings suggest that our patient's PVL represents an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development. © 2008 Wiley‐Liss, Inc.