Open AccessThe other side of Turner′s: Noonan′s syndrome
Author(s) -
Pankaj Agarwal,
Rajeev Philip,
Manish Gutch,
Kavya Gupta
Publication year - 2013
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.117197
Subject(s) - noonan syndrome , short stature , medicine , turner syndrome , turner's syndrome , pediatrics , phenotype , genetics , biology , gene
Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the phenotype becomes less pronounced with increasing age.