Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.
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.
Guion-Almeida
Maria Leine
ML
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
Richieri-Costa
Antonio
A
D000328:Adult; D001938:Brazil; D002490:Central Nervous System / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005624:Frontal Bone / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007805:Language Development Disorders / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome