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 c...

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Bibliographic Details
Published in:Pediatric dermatology 2000-05, Vol.17 (3), p.218-221
Main Authors: Bertola, D. R., Kim, C. A., Sugayama, S. M. M., Albano, L. M. J., Utagawa, C. Y., Gonzalez, C. H.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
Choanal Atresia
Complex syndromes
Ectodermal Dysplasia - classification
Ectodermal Dysplasia - diagnosis
Humans
Male
Medical genetics
Medical sciences
Phenotype
Syndrome
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Summary:: 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.
ISSN:0736-8046
1525-1470
DOI:10.1046/j.1525-1470.2000.01756.x