ArticleIndian journal of pediatrics2017
Clinical and Molecular Characterization of Prader-Willi Syndrome.
Article in Indian journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed.
- Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.Orphanet journal of rare diseases · 2024Article
- Ovarian cyst torsion in Prader-Willi Syndrome.BMC pediatrics · 2023Article
- Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature.Frontiers in pediatrics · 2021Article
- [Clinical screening and genetic diagnosis for Prader-Willi syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Multimodal imaging in a patient with Prader-Willi syndrome.International journal of retina and vitreous · 2018Article
- Prader Willi Syndrome - A Common Epigenetic Cause of Syndromic Obesity.Indian journal of pediatrics · 2017Article
- Clinical Profile and Molecular Genetic Analysis of Prader - Willi Syndrome: A Single Center Experience.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS).
methodsThirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis.
resultsAt diagnosis, the most common clinical features included obesity (59%) and short stature (53%). Distinct dysmorphic features were observed in 67%. Neonatal hypotonia with feeding difficulty, delayed development in infancy and childhood behavioral problems were reported in 94%, 94% and 74% respectively. Food seeking behavior and hyperphagia was reported in 67%. Seizures were reported in 47%. All children had underdeveloped external genitalia. Growth hormone (GH) deficiency and impaired glucose tolerance were found in 56% and 50% respectively. Sleep related problems were seen in 67%. Skin and rectal picking were reported in 67%. FISH confirmed micro-deletion was found in 64.7% and abnormal methylation in 35%, of which uniparental disomy was confirmed in 14.7%.
conclusionsClinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.
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Registered trials
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