Goldenhar Syndrome with a Rare Complication: Hydrocephalus
نویسنده
چکیده
BACKGROUND Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAV) is a rare disorder in which the facial and vertebral anomalies are frequently associated with cardiac and pulmonary defects. The syndrome was first described by Dr. Maurice Goldenhar in 1952. The abnormalities usually involve one side of the body, and may range from mild to severe. While the deformities of the face, spine and some internal organs are typical, the presence of hydrocephalus is a rare association, which prompted us to report this case (1, 2).
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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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