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Clinical Problem Solving: Radiology
October 2005

Radiology Quiz Case 1: Diagnosis

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Copyright 2005 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2005

Arch Otolaryngol Head Neck Surg. 2005;131(10):925-926. doi:10.1001/archotol.131.10.925

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.

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