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Arch Otolaryngol Head Neck Surg. 2005;131:925-926.

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Diagnosis: CHARGE association

In 1981, Pagon et al¹ used the term CHARGE association to describe a syndrome that comprises a specific set of birth defects that are commonly found together. CHARGE association is characterized by coloboma (80%-90%), various heart defects, choanal atresia (50%-60%), retarded growth and development (100%), genital malformations and/or underdeveloped reproductive organs (70%-80%), and ear malformations and/or deafness (90%).² A variety of other anomalies may also be present: problems with cranial nerves, cleft lip and palate, esophageal atresia, seizures, weak immune system, and kidney reflux are more common in CHARGE association than in other conditions.

CHARGE association occurs at a ratio of 1:10 000 to 12 000 births. Males and females of all races are affected equally.³ A significantly higher mean paternal age at conception, along with concordance in monozygotic twins and the existence of rare familial cases, supports the role of genetic factors such as de novo mutation of a dominant gene . . . [Full Text of this Article]

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Arch Otolaryngol Head Neck Surg. 2005;131(10):921.
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