Literature DB >> 10886756

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

D R Bertola1, C A Kim, S M Sugayama, L M Albano, C Y Utagawa, C H Gonzalez.   

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.

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Year:  2000        PMID: 10886756     DOI: 10.1046/j.1525-1470.2000.01756.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  1 in total

1.  Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.

Authors:  Ajay Chopra; Debdeep Mitra; Renu Kandpal; Reetu Agarwal
Journal:  Int J Trichology       Date:  2018 Jan-Feb
  1 in total

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