Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.

ABSTRACT:

Introduction

Patients with Noonan and Williams-Beuren syndrome present similar facial phenotypes modulated by their ethnic background. Although distinctive facial features have been reported, studies show a variable incidence of those characteristics in populations with diverse ancestry. Hence, a differential diagnosis based on reported facial features can be challenging. Although accurate diagnoses are possible with genetic testing, they are not available in developing and remote regions.

Methods

We used a facial analysis technology to identify the most discriminative facial metrics between 286 patients with Noonan and 161 with Williams-Beuren syndrome with diverse ethnic background. We quantified the most discriminative metrics, and their ranges both globally and in differ

SUBMITTER: Porras AR 

PROVIDER: S-EPMC8172204 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature