A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

ABSTRACT:

Objective

Williams syndrome is caused by a microdeletion at 7q11.23 and is characterized by a distinctive face, cardiovascular disease, and intellectual disability with a specific cognitive and behavioral profile. This study aims to evaluate the clinical features and obtain important information that can guide early diagnoses and correct follow-up.

Materials and methods

The study included 78 patients whose diagnoses were confirmed by fluorescent in situ hybridization. Facial features, anthropometric measurements, and neurocognitive, endocrine, and urinary system evaluations were obtained from the medical records, and photographs of the patients were evaluated retrospectively.

Results

The most common complaints at admission were cardiovascular disease and atypical face

SUBMITTER: Bozlak S 

PROVIDER: S-EPMC10081020 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature