AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias | Zendy

Bertola D. R. | Zendy; Kim C. A. | Zendy; Sugayama S. M. M. | Zendy; Albano L. M. J. | Zendy; Utagawa C. Y. | Zendy; Gonzalez C. H. | Zendy

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AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias

Author(s) -

Bertola D. R.,

Kim C. A.,

Sugayama S. M. M.,

Albano L. M. J.,

Utagawa C. Y.,

Gonzalez C. H.

Publication year - 2000

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1046/j.1525-1470.2000.01756.x

Subject(s) - ectodermal dysplasia , medicine , choanal atresia , atresia , phenotype , congenital disease , dermatology , pediatrics , anatomy , surgery , genetics , biology , gene

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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