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

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

SUBMITTER: Soler-Alfonso C 

PROVIDER: S-EPMC3059370 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature