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J Pediatr ; 158(4): 655-659.e2, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21168152

RESUMEN

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.


Asunto(s)
Trastornos de Deglución/etiología , Insuficiencia de Crecimiento/etiología , Anomalías Múltiples , Preescolar , Trastornos de los Cromosomas , Duplicación Cromosómica , Hibridación Genómica Comparativa , Nutrición Enteral , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Síndrome de Smith-Magenis/complicaciones , Síndrome de Smith-Magenis/diagnóstico , Síndrome de Smith-Magenis/genética , Síndrome de Smith-Magenis/terapia
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