AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.

Abstract

Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome.

• Authors: D R Bertola, C A Kim, S M Sugayama, L M Albano, C Y Utagawa, C H Gonzalez
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 17 Issue 3 Pg. 218-21 ( 2000) ISSN: 0736-8046 [Print] United States
• PMID: 10886756 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Choanal Atresia
• Ectodermal Dysplasia (classification, diagnosis)
• Humans
• Male
• Phenotype
• Syndrome