Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive - 02/08/11
Reprint requests: Dr Lorraine Potocki, MD, Baylor College of Medicine, Texas Children’s Hospital, 6621 Fannin Street, Mail Code CC1560, Houston, TX 77030.Abstract |
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.
Le texte complet de cet article est disponible en PDF.Mots-clés : BMI, FTT, GCRC, PTLS, SD, SMS
Plan
| Supported in part by the National Institutes of Health General Clinical Research Centers (grant M01RR00188), USDA/ARS Children’s Nutrition Research Center, Baylor College of Medicine, (Houston, Texas), and US Department of Agriculture, Agricultural Research Service (Cooperative Agreement Number 58-6250-1-003). The content of this publication does not necessarily reflect the views or policies of the US Department of Agriculture, nor does mention of trade names commercial products, or organizations imply endorsement by this agency. The authors declare no conflicts of interest. |
Vol 158 - N° 4
P. 655 - avril 2011 Retour au numéro
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