作者: Dionisia AC Lamonica , Dagma VM Abramides , Luciana P Maximino , Mariana G Gejao , Greyce K da Silva
DOI: 10.1002/AJMG.A.32787
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摘要: We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis splenium corpus callosum, minor anomalies face limbs, mild mental retardation, speech disabilities. The occurrence pilomatricoma (calcifying epithelioma) may be part clinical spectrum or fortuitous finding. Compared to other related conditions LVNC suggests that this is "new" unique pattern MCA/MR syndrome.