Defining the clinical phenotype of Saul-Wilson syndrome.

ABSTRACT:

Purpose

Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease remains poorly defined. We address this shortcoming by providing a detailed characterization of its phenotype.

Methods

Retrospective chart reviews were performed and primary radiographs assessed for all 14 individuals. Four individuals underwent detailed ophthalmologic examination by the same physician. Two individuals underwent gynecologic evaluation. Z-scores for height, weight, head circumference and body mass index were calculated at different ages.

Results

All patients exhibited short stature, with sharp decline from the

SUBMITTER: Ferreira CR 

PROVIDER: S-EPMC7205587 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature