부산대학교 도서관

Background: Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia is a sporadic rare condition due to a defect in the development of first and second branchial arches. It is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. Antenatal diagnosis is possible by ultrasonography. Its etiology is not fully understood. Objective: To illustrate the variety of clinical features of GS. Materiel and methods: A retrospective descriptive study of the patients diagnosed with GS followed in our Neonatal Resuscitation and Intensive Care Unit over the last 15 years. Results: We have identified four patients with GS during the study period; three males and one female. Antenatal diagnosis was achieved in only one case with indication of medical termination of pregnancy at 26 weeks of gestation. Three patients had various degree of hemifacial microsomia, and one patient presented a left facial paralysis. Two patients had mandibular hypoplasia. Microtia with abnormal implantation of the ears was seen in two cases and the presence of preauricular tags occurred in three cases. One patient had cleft palate. As ocular defects, epibulbar dermoid or dermoid cyst and right anophthalmia in another case were seen. Two patients had vertebral abnormalities: spina bifida aberta with myelo-meningocele in the medullar MRI in one case and dystrophy of dorsal rachis without kyphosis and/or scoliosis in another case. Karyotype, cardiac and renal sonography and brain MRI of the three patients were normal. The morphology ultrasound of the one patient detected a complex cardiopathy motivating medical termination of pregnancy. Conclusion: We illustrate the variation of phenotypic spectrum of Goldenhar syndrome that may make diagnosis difficult. [ABSTRACT FROM AUTHOR]