ArticleThe Journal of pediatrics2011
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
Article in The Journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 50 citations in OpenAlex.
- Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.Healthcare (Basel, Switzerland) · 2024Review
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome.BMC anesthesiology · 2021Article
- Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.BMC medical genomics · 2021Article
- Anesthesia in a Patient with Potocki-Lupski Syndrome.Case reports in anesthesiology · 2021Article
- Case Report: Potocki-Lupski Syndrome in Five Siblings.Frontiers in pediatrics · 2021Article
- Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.American journal of medical genetics. Part A · 2020Article
- Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.American journal of medical genetics. Part A · 2019Article
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome medicine · 2019Article
- A New Patient with Potocki-Lupski Syndrome: A Literature Review.Journal of pediatric genetics · 2018Article
- The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Journal of neurodevelopmental disorders · 2018Article
- Article
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations.Molecular syndromology · 2016Review
- Genetic determinants of swallowing impairment, recovery and responsiveness to treatment.Current physical medicine and rehabilitation reports · 2016Review
- Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.American journal of human genetics · 2015Article
- Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.Journal of pediatric genetics · 2015Review
- Of mice and men: molecular genetics of congenital heart disease.Cellular and molecular life sciences : CMLS · 2014Review
- Stress and well-being among parents of children with Potocki-Lupski syndrome.Journal of genetic counseling · 2013Article
- Genetic architecture of reciprocal CNVs.Current opinion in genetics & development · 2013Review
- Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.American journal of medical genetics. Part A · 2012Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveFailure to thrive (FTT) is a feature of children with Potocki-Lupski syndrome (PTLS) [duplication 17p11.2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with relevant physical features and swallow function studies. STUDY
designWe evaluated 24 individuals with PTLS who were ascertained by chromosome analysis and/or array comparative genome hybridization. Clinical assessments included review of medical records, physical examination, otolaryngological examination, and swallow function studies. Measures of height and weight were converted to Z-scores.
resultsThe mean weight-for-age and weight-for-length Z-scores at birth were lower (P < .01) than the reference standard and did not change with age. A history of poor feeding, hypotonia, and FTT were reported in 92%, 88%, and 71%, respectively. Individuals with hypotonia had lower weight-for-age and body mass index-for-age Z-scores (P = .01). Swallow function studies demonstrated at least one abnormality in all subjects.
conclusionsFTT is common in children with PTLS. We hypothesize that oropharyngeal dysphagia and hypotonia likely contribute to FTT in patients with PTLS and recommend that once a diagnosis is established, the individual be assessed for feeding and growth issues and be availed of oromotor therapy and nutritional services.
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