Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

Author Haratz, Karina Krajden Autor UNIFESP Google Scholar
Vinkler, Chana Google Scholar
Lev, Dorit Google Scholar
Schreiber, Letizia Google Scholar
Malinger, Gustavo Google Scholar
Institution Edith Wolfson Med Ctr
Tel Aviv Univ
Universidade Federal de São Paulo (UNIFESP)
Abstract Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. the sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel's deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a 'golf ball' sign in the left ventricle of the heart. the diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. in view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted. Copyright (C) 2011 S. Karger AG, Basel
Keywords Hemifacial microsomia
Goldenhar syndrome
Oculoauriculovertebral dysplasia
Postmortem computerized tomography
3-D ultrasound
Language English
Date 2011-01-01
Published in Fetal Diagnosis and Therapy. Basel: Karger, v. 30, n. 4, p. 309-313, 2011.
ISSN 1015-3837 (Sherpa/Romeo, impact factor)
Publisher Karger
Extent 309-313
Origin http://dx.doi.org/10.1159/000330121
Access rights Closed access
Type Article
Web of Science ID WOS:000298661500009
URI http://repositorio.unifesp.br/handle/11600/33336

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