Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.
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.
Lamonica
Dionisia A C
DA
Departamento de Fonoaudiologia, FOB-USP, Bauru, SP, Brazil.
Abramides
Dagma V M
DV
Maximino
Luciana P
LP
Gejão
Mariana G
MG
da Silva
Greyce K
GK
Ferreira
Amanda T
AT
Furlan
Renata H
RH
Giacheti
Célia M
CM
Barros-Neto
Plínio A
PA
Richieri-Costa
A
A
D061085:Agenesis of Corpus Callosum; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009506:Nevus / Q000175:diagnosis* / Q000235:genetics; D018296:Pilomatrixoma / Q000175:diagnosis* / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography; D018487:Ventricular Dysfunction, Left / Q000151:congenital* / Q000000981:diagnostic imaging* / Q000235:genetics