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 sho...

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Veröffentlicht in:	American journal of medical genetics 1992-11, Vol.44 (5), p.683-690
Hauptverfasser:	van Bever, Yolande, van den Ende, Jenny J., Richieri-Costa, A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Adolescent Adult Bone Diseases, Developmental - diagnosis Bone Diseases, Developmental - diagnostic imaging Brazil case reports dextrocardia Facial Asymmetry - diagnosis Female Genitalia, Female - abnormalities Goldenhar complex Goldenhar Syndrome - diagnosis hemifacial microsomia Humans Klippel-Feil anomaly Klippel-Feil Syndrome - diagnosis limb anomalies Limb Deformities, Congenital Male man oculo-auriculo-vertebral complex Phenotype porencephalic cyst Radiography Rokitansky sequence
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Zusammenfassung:	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. © 1992 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320440530