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

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.

• Authors: Y van Bever, J J van den Ende, A Richieri-Costa
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 44 Issue 5 Pg. 683-90 (Nov 15 1992) ISSN: 0148-7299 [Print] United States
• PMID: 1481833 (Publication Type: Journal Article)

Topics

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