Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients

Y van Bever; J J van den Ende; A Richieri-Costa

doi:10.1002/ajmg.1320440530

Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients

Am J Med Genet. 1992 Nov 15;44(5):683-90. doi: 10.1002/ajmg.1320440530.

Authors

Y van Bever¹, J J van den Ende, A Richieri-Costa

Affiliation

¹ Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.

PMID: 1481833
DOI: 10.1002/ajmg.1320440530

Abstract

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.

MeSH terms

Abnormalities, Multiple*
Adolescent
Adult
Bone Diseases, Developmental / diagnosis*
Bone Diseases, Developmental / diagnostic imaging
Brazil
Facial Asymmetry / diagnosis
Female
Genitalia, Female / abnormalities
Goldenhar Syndrome / diagnosis
Humans
Klippel-Feil Syndrome / diagnosis
Limb Deformities, Congenital
Male
Phenotype
Radiography