Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)

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• 作者：Kathleen J. Motil ; Mary Fete and Timothy J. Fete
• 关键词：growth ; body height ; body weight ; anthropometry ; body fat ; ectodermal dysplasia ; short stature ; malnutrition ; gastroesophageal reflux ; gastroparesis ; constipation ; gastrostomy
• 刊名：American Journal of Medical Genetics Part C: Seminars in Medical Genetics
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：172
• 期：1
• 页码：29-33
• 全文大小：76K
• ISSN：1552-4876

文摘

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P < 0.001), height (length) (P < 0.001), weight (P < 0.01), and BMI (P < 0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder.