Dr. Bertola et al., AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasias, PEDIAT DERM, 17(3), 2000, pp. 218-221
Among the ectodermal dysplasias, there are several examples of overlapping
phenotypes in disorders that are considered distinct. We report a 5-year-ol
d boy born to nonconsanguineous parents and presenting with ectodermal dysp
lasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia con
sistent with the diagnosis of AEC syndrome. We compare the findings in our
patient with the previous reported cases and discuss the overlapping phenot
ype of this disorder with CHAND syndrome.