Noonan syndrome with <i>PTPN11</i> gene variant presenting as isolated short stature: a case report.

ABSTRACT:

Background

Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by significant clinical heterogeneity, including distinctive facial features, short stature, developmental delay, congenital heart defects, and thoracic deformities. In some patients, especially in the early stages, the clinical manifestations are atypical and may solely include growth retardation or short stature, leading to misdiagnosis as idiopathic short stature or growth hormone (GH) deficiency and thereby delaying timely intervention.

Case description

In this report, a female child is described who exhibited slow weight and height gain since birth. At 18 months, physical examination revealed that her height was below the 3rd percentile, with bone age delayed by 3 months. No typical

SUBMITTER: Peng J 

PROVIDER: S-EPMC12433046 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature