Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.

ABSTRACT:

Background

Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aims to characterize the clinical phenotypes of Chinese children with WS to help for the early diagnosis and intervention of this disease.

Methods

231 children diagnosed with WS were retrospectively recruited to the study. Clinical data were analyzed to obtain the incidence of different clinical phenotypes. The occurrence of phenotypes and the influence of gender and age on the incidence of different phenotypes were analyzed.

Results

All WS exhibited facial dysmorphism (100.0%). The majority had neurodevelopmental disorder (91.8%), hoarseness (87.4%) and cardiovascular anomalies (85.7%). The incidence of short stature (46.9%), inguinal hernia

SUBMITTER: Li FF 

PROVIDER: S-EPMC9747549 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature