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Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child
Author(s) -
Lamonica Dionisia A.C.,
Abramides Dagma V.M.,
Maximino Luciana P.,
Gejão Mariana G.,
da Silva Greyce K.,
Ferreira Amanda T.,
Furlan Renata H.,
Giacheti Célia M.,
BarrosNeto Plínio A.,
RichieriCosta A.
Publication year - 2009
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.32787
Subject(s) - splenium , agenesis of the corpus callosum , corpus callosum , left ventricular noncompaction , agenesis , corpus callosum agenesis , medicine , psychology , language delay , audiology , cardiomyopathy , cardiology , anatomy , language development , magnetic resonance imaging , developmental psychology , radiology , heart failure , white matter
We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a “new” unique pattern MCA/MR syndrome. © 2009 Wiley‐Liss, Inc.