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

Fang-Fang Li1, Wei-Jun Chen1, Dan Yao1

  • 1Department of Child Health Care, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Molecular Genetics & Genomic Medicine
|September 28, 2022
PubMed

Insights

Williams syndrome (WS) in Chinese children presents with common phenotypes like facial dysmorphism and neurodevelopmental disorders. Early diagnosis and intervention should consider gender and age-related variations in WS clinical presentation.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Williams syndrome (WS) is a genetic disorder resulting from microdeletions in the 7q11.23 chromosomal region.
  • WS is a multisystem neurodevelopmental disorder affecting multiple aspects of development.

Purpose of the Study:

  • To characterize the clinical phenotypes of Chinese children diagnosed with Williams syndrome.
  • To aid in the early diagnosis and intervention strategies for WS in this population.

Main Methods:

  • Retrospective analysis of clinical data from 231 diagnosed children with WS.
  • Evaluation of phenotype incidence, and the influence of gender and age on these occurrences.

Main Results:

  • Facial dysmorphism (100%), neurodevelopmental disorder (91.8%), hoarseness (87.4%), and cardiovascular anomalies (85.7%) were the most prevalent phenotypes.
  • Significant gender differences were observed in conditions like supravalvular aortic stenosis and inguinal hernia.
  • The incidence of neurodevelopmental disorder increased with age, while cardiovascular anomalies, short stature, hypercalciuria, and hypercalcemia decreased with age.

Conclusions:

  • Facial dysmorphism, neurodevelopmental disorder, hoarseness, and cardiovascular anomalies are key indicators for WS.
  • Genetic testing is recommended for suspected cases.
  • Diagnosis and intervention planning must account for age and gender-specific manifestations of WS.
Abstract

Keywords:
Williams syndromeagechildrenclinical phenotypegender

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