CHARGE syndrome is a genetic disorder characterized by a specific and a recognizable pattern of anomalies, namely, coloboma, heart defects, atresia of choana, retardation of growth and/or development, genitourinary defects, and ear anomalies and/or deafness. The pattern of anomalies associated with CHARGE syndrome was described independently by Hall and Hittner et al. in 1979 (Hall 1979; Hittner et al. 1979). However, the acronym “CHARGE association” was coined by Pagon in 1981 (Pagon 1981). At present, with its recognizable pattern and definition, CHARGE is referred to as a syndrome (Pampal 2010; Zentner et al. 2010). The prevalence is estimated to be approximately 1 in 10,000 (Jongmans et al. 2006; Lalani et al. 2006).
KeywordsUrea Osteoporosis Creatinine Retina Cataract
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