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Article

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

American journal of medical genetics - 15 Nov 1992

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

Abstract excerpt

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.

Topics

Abnormalities, Multiple
Adolescent
Adult
Bone Diseases, Developmental
Brazil
Facial Asymmetry
Female
Genitalia, Female
Goldenhar Syndrome
Humans
Klippel-Feil Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Limb Deformities, Congenital

Male

Phenotype

Radiography

Source

Identifiers

PMID: 1481833
DOI: 10.1002/ajmg.1320440530

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1481833-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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