Behavioral phenotype of Noonan-like syndrome with loose anagen hair

ABSTRACT:

Introduction

Noonan-like syndrome with loose anagen hair (NSLH MIM 607721) is associated to mutations in PTPN11, RAF1, BRAF and SHOC2 genes.

Objectives

Here, we report behavioral phenotype of a child suspected to have NSLH.

Methods

A 2-years-old Tunisian child harboring severe pulmonic valvular stenosis was referred to our genetic counselling for genetic assessment. Medical dysmorphology, cytogenetic analysis as well as genetic exploration of RAS-MAPK pathway genes were conducted.

Results

The child had short stature and ectodermal features including ichthyotic skin and thin-soft nails. He has specific hair appearance associated to NS features. In fact, he had a small nasal tip, thick lips and sticking-out rotated ears. He harbored typical nasal voice and

SUBMITTER: Bouayed Abdelmoula N 

PROVIDER: S-EPMC9566782 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature