Goldenhar syndrome. Associated with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue.
We report of a case of Goldenhar syndrome with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. This association has not been noted in the literature. A vascular abnormality or hemorrhagic phenomenon occurring during embryogenesis have been proposed as an explanation for the spectrum of defects seen in this syndrome. Congenitae hearing loss, when it occurs in Goldenhar syndrome, is usually unilateral and conductive in nature; however, inner ear defects may be more common than previously recognized.
D000015:Abnormalities, Multiple; D003884:Dermoid Cyst / Q000150:complications*; D005134:Eye Neoplasms / Q000150:complications*; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007223:Infant; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D013363:Submandibular Gland; D013577:Syndrome; D014059:Tongue / Q000254:growth & development; D014060:Tongue Diseases / Q000150:complications*