OBJECTIVE: 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. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: 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. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: L Potocki; K S Chen; S S Park; D E Osterholm; M A Withers; V Kimonis; A M Summers; W S Meschino; K Anyane-Yeboa; C D Kashork; L G Shaffer; J R Lupski Journal: Nat Genet Date: 2000-01 Impact factor: 38.330
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Authors: Rebecca D Carter; Marianna Raia; Linda Ewing-Cobbs; Michael Gambello; S Shahrukh Hashmi; Susan K Peterson; Patricia Robbins-Furman; Lorraine Potocki Journal: J Genet Couns Date: 2013-05-25 Impact factor: 2.537
Authors: Bo Yuan; Tamar Harel; Shen Gu; Pengfei Liu; Lydie Burglen; Sandra Chantot-Bastaraud; Violet Gelowani; Christine R Beck; Claudia M B Carvalho; Sau Wai Cheung; Andrew Coe; Valérie Malan; Arnold Munnich; Pilar L Magoulas; Lorraine Potocki; James R Lupski Journal: Am J Hum Genet Date: 2015-11-05 Impact factor: 11.025