How to cite this article: Motil KJ, Fete TJ. 2009. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome. Am J Med Genet Part A 149A:1922–1925.
Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome†
Version of Record online: 12 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 1922–1925, September 2009
How to Cite
Motil, K. J. and Fete, T. J. (2009), Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome. Am. J. Med. Genet., 149A: 1922–1925. doi: 10.1002/ajmg.a.32789
- Issue online: 20 AUG 2009
- Version of Record online: 12 AUG 2009
- Manuscript Accepted: 4 FEB 2009
- Manuscript Received: 24 AUG 2008
- National Foundation for Ectodermal Dysplasias
- Agricultural Research Service of the United States Department of Agriculture. Grant Number: 58-7MN1-6-100
- body height;
- body weight;
- body fat;
- ectodermal dysplasia;
- gastroesophageal reflux;
Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth weight and height-for-age z-scores of the AEC patients were significantly lower than those of the reference population. The weight-for-age z-score of the AEC cohort increased significantly with advancing age because of increasing body fat. Cleft lip and palate were present in 47% and 94%, respectively, of the AEC cohort; 28% had dentures. One-fourth or more of the AEC cohort reported having nutritional and/or gastrointestinal problems including the need for supplemental formula feedings, gastrostomy placement, gastroesophageal reflux, and constipation. Our observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with AEC. © 2009 Wiley-Liss, Inc.