ArticleMolecular genetics & genomic medicine2022
Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 35 citations in OpenAlex.
- Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Analysis of clinical audiological characteristics in children with Williams syndrome in China.Orphanet journal of rare diseases · 2025Article
- Metabolomic profiles in serum uncover novel biomarkers in children with Williams-Beuren syndrome.Scientific reports · 2025Article
- Phenotypic findings associated with variation in elastin.HGG advances · 2025Article
- [Characteristics of early cognitive development in children with Williams syndrome: a prospective cohort study].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study.Orphanet journal of rare diseases · 2024Article
- Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.Pediatric cardiology · 2024Article
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Article
- Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.Molecular genetics & genomic medicine · 2022Article
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12 authors at 1 institution in 1 country.
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Abstract
backgroundWilliams 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.
methods231 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.
resultsAll 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 (47.2%), hypercalciuria (29.10%), hypercalcemia (9.1%), subclinical hypothyroidism (26.4%) and hypothyroidism (7.4%) were relatively higher. Gender differences were found in supravalvular aortic stenosis (SVAS, p < .001), ventricular septal defect (VSD, p < .05), inguinal hernia (p < .001), superior pulmonary stenosis (SVPS, p < .05) and neurodevelopmental disorder (p < .05). The incidence of neurodevelopmental disorder in WS increased with age (p < .05) while cardiovascular anomalies (p < .001), short stature (p < .001), hypercalciuria (p < .001) and hypercalcemia (p < .01) decreased with age.
conclusionsFacial dysmorphism, neurodevelopmental disorder, hoarseness and cardiovascular anomalies were the most common phenotypes. Genetic testing should be suggested to confirm the diagnosis for children with the above abnormalities. Gender and age should be taken into account when making diagnosis and intervention.
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