Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients.
We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex.
van Bever
Y
Y
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
van den Ende
J J
JJ
Richieri-Costa
A
A
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D001938:Brazil; D005146:Facial Asymmetry / Q000175:diagnosis; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006053:Goldenhar Syndrome / Q000175:diagnosis; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000175:diagnosis; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype; D011859:Radiography