How to cite this article: Cole P, Hatef DA, Kaufman Y, Magruder A, Bree A, Friedman E, Sindwani R, Hollier Jr LH. 2009. Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet Part A 149A:1910–1915.
Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects-cleft lip/palate (AEC) syndrome†
Article first published online: 20 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 1910–1915, September 2009
How to Cite
Cole, P., Hatef, D. A., Kaufman, Y., Magruder, A., Bree, A., Friedman, E., Sindwani, R. and Hollier, L. H. (2009), Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects-cleft lip/palate (AEC) syndrome. Am. J. Med. Genet., 149A: 1910–1915. doi: 10.1002/ajmg.a.32836
- Issue published online: 20 AUG 2009
- Article first published online: 20 AUG 2009
- Manuscript Accepted: 14 FEB 2009
- Manuscript Received: 24 AUG 2008
- National Foundation for Ectodermal Dysplasias
- ectodermal dysplasia;
- congenital ectodermal defect;
- cleft lip;
- cleft palate;
- otitis media;
- conductive hearing loss;
- speech pathology
Ankyloblepharon–ectodermal defects-cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months–30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41–90 dB). Nine of 13 respondents reported hoareness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated cleft palate defects. Of these, 16 (94.11%) presented with clefting of the soft palate, and 10 (58.82%) showed hard palate defects. Three subjects (16.67%) were noted to have submucous clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal clefting. Despite this, some abnormalities persist following surgical cleft closure, which indicates other complicating factors are also involved. © 2009 Wiley-Liss, Inc.