| Noonan syndrome |
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An autosomal dominant syndrome phenotypically somewhat similar to Turner
syndrome, with a normal chromosomal complement, due to an abnormality in
chromosome 12q. It is associated with congenital cardiac anomalies,
especially dysplastic pulmonic valve stenosis, pulmonary artery stenosis,
ASD, tetralogy of Fallot, or hypertrophic cardiomyopathy. Congenital
lymphedema is a common associated anomaly that may be unrecognized. (Noonan
JA, Ehmke DA. Associated non-cardiac malformations in children with
congenital heart disease. Midwest Soc Pediatr Res 1963;63:468.)
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