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

Abstract

Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment 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.

• Authors: P Martinelli, G M Maruotti, A Agangi, L L Mazzarelli, G Bifulco, D Paladini
• Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (Ultrasound Obstet Gynecol) Vol. 24 Issue 2 Pg. 199-201 (Aug 2004) ISSN: 0960-7692 [Print] England
• PMID: 15287060 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright 2004 ISUOG

Topics

• Adult
• Cerebellum (abnormalities, diagnostic imaging)
• Facial Asymmetry (diagnostic imaging)
• Female
• Fetal Diseases (diagnostic imaging)
• Goldenhar Syndrome (diagnostic imaging)
• Humans
• Pregnancy
• Ultrasonography, Prenatal (methods)