Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
J Pediatr. 2011 Apr;158(4):655-659.e2. doi: 10.1016/j.jpeds.2010.09.062. Epub 2010 Dec 17.
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.
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.
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.
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.
生长迟缓是 Potocki-Lupski 综合征（PTLS）[17p11.2 重复]患儿的特征之一。本研究旨在描述 24 名 PTLS 患儿从出生到 5 岁的生长特征，同时结合相关的体格特征和吞咽功能研究。
我们评估了 24 名通过染色体分析和/或阵列比较基因组杂交确定的 PTLS 个体。临床评估包括病历回顾、体格检查、耳鼻喉科检查和吞咽功能研究。身高和体重的测量值转换为 Z 分数。
出生时体重与年龄的 Z 分数和体重与身长的 Z 分数均低于参考标准（P<.01），且随年龄变化而不变。92%、88%和 71%的患儿分别有喂养不良、低张力和生长迟缓的病史。有低张力的患儿体重与年龄的 Z 分数和体重指数与年龄的 Z 分数均较低（P=.01）。所有患儿的吞咽功能研究均至少存在一项异常。
生长迟缓在 PTLS 患儿中很常见。我们假设口咽吞咽困难和低张力可能导致 PTLS 患儿出现生长迟缓，并建议一旦确诊，就应评估患儿的喂养和生长问题，并提供口运动治疗和营养服务。
