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Pediatrics Education and Research

Volume  2, Issue 2, April - June 2014, Pages 79-81
 

Case Report

Noonan’s Syndrome

Amar Taksande, Krishna Vilhekar

*Professor, Deptt. of Pediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra-442102, India. **Professor & Head, Deptt. of Paediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra- 442102, Indi

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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.


Corresponding Author : Amar Taksande