{"doi":"10.1016/j.jpeds.2010.09.062","title":"Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive","abstract":null,"journal":"The Journal of Pediatrics","year":2011,"id":621593,"datarank":0.5897738449086489,"base_score":3.9318256327243257,"endowment":3.9318256327243257,"self_citation_contribution":0.5897738449086489,"citation_network_contribution":0.0,"self_endowment_contribution":0.5897738449086489,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":50,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":912122,"name":"Kathleen J. Motil","orcid":"0000-0002-5713-8399","position":1,"is_corresponding":false},{"id":1605241,"name":"Catherine L. Turk","orcid":null,"position":2,"is_corresponding":false},{"id":1605242,"name":"Patricia Robbins-Furman","orcid":null,"position":3,"is_corresponding":false},{"id":1605243,"name":"Ellen M. Friedman","orcid":null,"position":4,"is_corresponding":false},{"id":287877,"name":"Feng Zhang","orcid":"0000-0002-6103-1498","position":5,"is_corresponding":false},{"id":460211,"name":"James R. Lupski","orcid":null,"position":6,"is_corresponding":false},{"id":1605244,"name":"J. Kennard Fraley","orcid":null,"position":7,"is_corresponding":false},{"id":355068,"name":"Lorraine Potocki","orcid":null,"position":8,"is_corresponding":false},{"id":1605240,"name":"Claudia Soler-Alfonso","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive","abstract":"<h4>Objective</h4>Failure 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.<h4>Study design</h4>We 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.<h4>Results</h4>The 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.<h4>Conclusions</h4>FTT 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.","is_dataset_classified":null,"base_score":3.9318256327243257,"endowment":3.9318256327243257,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21168152","pmcid":"PMC3059370","openalex_id":"https://openalex.org/W1981151046","authors":[],"funders":[{"funder_name":"NICHD NIH HHS","grant_id":"K08 HD001149","title":null},{"funder_name":"NCRR NIH HHS","grant_id":"M01RR00188","title":null},{"funder_name":"NCRR NIH HHS","grant_id":"M01 RR000188","title":null}],"total_grants":3,"fwci":1.8036,"citation_percentile":0.83717308,"influential_citations":0,"citation_trend":[{"year":2012,"count":5},{"year":2013,"count":6},{"year":2015,"count":3},{"year":2016,"count":3},{"year":2017,"count":2},{"year":2018,"count":1},{"year":2019,"count":7},{"year":2020,"count":5},{"year":2021,"count":8},{"year":2022,"count":1},{"year":2024,"count":5},{"year":2026,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://doi.org/10.1016/j.jpeds.2010.09.062","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21168152","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3059370","host_type":"repository"}],"fields_of_study":["Neurogenetic and Muscular Disorders Research","Glycogen Storage Diseases and Myoclonus","Genomic variations and chromosomal abnormalities"],"mesh_terms":["Abnormalities, Multiple","Child, Preschool","Deglutition Disorders","Enteral Nutrition","Failure to Thrive","Female","Humans","Infant","Infant, Newborn","Male","Chromosome Disorders","Comparative Genomic Hybridization","Smith-Magenis Syndrome","Chromosome Duplication"],"keywords":["Hypotonia","Failure to thrive","Dysphagia","Pediatrics","Medicine","Oropharyngeal dysphagia","Physical examination","Surgery"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T15:09:57.976251Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}