1. Clinical Diagnosis.
- Author
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Hefner, Margaret A. and Davenport, Sandra L. H.
- Subjects
- *
GENETIC disorders in children , *PEDIATRIC diagnosis , *SYMPTOMS in children , *HEART abnormalities , *CRANIAL nerves , *KIDNEY abnormalities , *OCULAR manifestations of general diseases , *GENETICS , *DIAGNOSIS - Abstract
The authors present information regarding the clinical diagnosis of the genetic disorder CHARGE syndrome. They describe major characteristics such as ocular coloboma, choanal atresia, and cranial nerve abnormalities, and minor characteristics such as congenital heart defects, genital hypoplasia, and renal anomalies. They also describe additional identified characteristics not directly related to diagnosis but which might be helpful in the successful management of the disorder.
- Published
- 2006