Goldenhar Syndrome in an Infant of Diabetic Mother
نویسندگان
چکیده
BACKGROUND Goldenhar syndrome (oculoauriculovertebral dysplasia) is a rare congenital anomaly with unknown etiology and consists of non accidental association of hemifacial microsomia, auricular anomalies, epibulbar dermoid and vertebral anomalies. Although some malformations are more frequent in infants of diabetic mothers, developmental defects of first and second branchial arch is not a common finding in these patients. CASE PRESENTATION We report a female case of Goldenhar syndrome in a newborn infant of a diabetic mother (IDM). Follow up of this patient after 6 months showed normal neurodevelopment and no evidence of hearing loss. She had developed epibulbar dermoid tumor in her right eye. CONCLUSION It is necessary to evaluate IDM for presence of anomalies implying oculoauriculo-vertebral dysplasia.
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Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
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