Artículos de revistas
Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients
Fecha
2009Registro en:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.149A, n.5, p.1006-1011, 2009
1552-4825
10.1002/ajmg.a.32717
Autor
GUION-ALMEIDA, Maria Leine
RICHIERI-COSTA, Antonio
Institución
Resumen
Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. (C) 2009 Wiley-Liss, Inc.