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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; Barros-Neto, Plínio A; Richieri-Costa, A
American journal of medical genetics. Part A, 20/May , Volume: 149A, Issue: 5Journal Article
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.
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