Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum

P. Martinelli, G. M. Maruotti, A. Agangi, L. L. Mazzarelli, G. Bifulco, D. Paladini

Research output: Contribution to journalArticlepeer-review

Abstract

Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral under development of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting.

Original languageEnglish
Pages (from-to)199-201
Number of pages3
JournalUltrasound in Obstetrics and Gynecology
Volume24
Issue number2
DOIs
Publication statusPublished - Aug 2004

Keywords

  • Goldenhar syndrome
  • Hemifacial macrosomia
  • Oculoauriculovertebral spectrum
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Acoustics and Ultrasonics

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