AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.
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.
Bertola
D R
DR
Department of Pediatrics, Instituto da Criança do Hospital das Clínicas, University of São Paulo, São Paulo, Brazil.
Kim
C A
CA
Sugayama
S M
SM
Albano
L M
LM
Utagawa
C Y
CY
Gonzalez
C H
CH
D002675:Child, Preschool; D002754:Choanal Atresia; D004476:Ectodermal Dysplasia / Q000145:classification / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome