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- W1999465346 abstract "Fifteen patients with CHARGE syndrome are described, nine sporadic and six familial. A recognizable pattern of malformations is present which appears to constitute a syndrome rather than a non-random association. In addition to acronymic features of Coloboma, ifeart disease, Atresia of the choanae,.Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency. A square facial appearance with asymmetry and malar flattening is characteristic, and long philtrum or prominent nasal columella may be present. Characteristic external ear anomalies and a ‘wedge’-shaped audiogram may be unique to this syndrome. Short stature and hypogonadism with genital hypoplasia is pituitary or possibly hypothalamic in origin. Each feature varies from normal to severe involvement including mental function, and no single feature appears to be necessary for diagnosis." @default.
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- W1999465346 date "2008-04-23" @default.
- W1999465346 modified "2023-09-30" @default.
- W1999465346 title "The spectrum of clinical features in CHARGE syndrome" @default.
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- W1999465346 doi "https://doi.org/10.1111/j.1399-0004.1986.tb01258.x" @default.
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