CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients.
We report on 12 Brazilian boys with the Optiz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.
Guion-Almeida
M L
ML
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001938:Brazil; D002490:Central Nervous System / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003616:Dandy-Walker Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics; D009666:Nose / Q000002:abnormalities; D013577:Syndrome