Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

J Pediatr. 2011 Apr;158(4):655-659.e2. doi: 10.1016/j.jpeds.2010.09.062. Epub 2010 Dec 17.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Abnormalities, Multiple
  • Child, Preschool
  • Chromosome Disorders
  • Chromosome Duplication
  • Comparative Genomic Hybridization
  • Deglutition Disorders / etiology*
  • Enteral Nutrition
  • Failure to Thrive / etiology*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Smith-Magenis Syndrome / complications
  • Smith-Magenis Syndrome / diagnosis
  • Smith-Magenis Syndrome / genetics
  • Smith-Magenis Syndrome / therapy

Supplementary concepts

  • Potocki-Lupski syndrome