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Pediatric Education and Research 2(2):p 79-81, April - June 2014. | DOI:
Case Report
Noonan’s Syndrome
Amar Taksande , Amar Taksande , Krishna Vilhekar
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Pediatric Education and Research 2(2):p 79-81, April - June 2014. | DOI:
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Abstract
Noonan’s syndrome is a complex familial syndrome with a large phenotypic overlap with the Turner syndrome. Individuals with this syndrome have small stature, broad or webbed neck, lymphedema, facial dysmorphism, mental retardation, skeletal abnormalities, and thrombocytopenia. In males there is undescended testes and sexual infantilism. Diagnosis is currently based on clinical presentation and a normal karyotype. Here we report a case of Noonan’s syndrome.
Keywords: Noonan syndrome; Pseudo Turner syndrome; Pulmonary stenosis.
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