title: Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.
abstract: 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.
authors.affiliation: Departamento de Fonoaudiologia, FOB-USP, Bauru, SP, Brazil.
authors.forename: Dionisia A C
authors.initials: DA
authors.lastname: Lamonica
authors.forename: Dagma V M
authors.initials: DV
authors.lastname: Abramides
authors.forename: Luciana P
authors.initials: LP
authors.lastname: Maximino
authors.forename: Mariana G
authors.initials: MG
authors.lastname: Gejão
authors.forename: Greyce K
authors.initials: GK
authors.lastname: da Silva
authors.forename: Amanda T
authors.initials: AT
authors.lastname: Ferreira
authors.forename: Renata H
authors.initials: RH
authors.lastname: Furlan
authors.forename: Célia M
authors.initials: CM
authors.lastname: Giacheti
authors.forename: Plínio A
authors.initials: PA
authors.lastname: Barros-Neto
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: 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