Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

Marco Castori, Francesco Brancati, Rosanna Rinaldi, Loredana Adami, Rita Mingarelli, Paola Grammatico, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and kidney agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition.

Original languageEnglish
Pages (from-to)1573-1579
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number14
DOIs
Publication statusPublished - Jul 15 2006

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Keywords

  • Goldenhar syndrome
  • Hemifacial microsomia
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)

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