Literature DB >> 28230601

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.

Siyuan Guo1, Renji Chen, Yi Xu, Yue Mu, Linfeng Chen.   

Abstract

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is an autosomal genetic disease with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate. The authors report a patient with 17 months old girl with AEC syndrome having ankyloblepharon, cleft and palate, and ectrodactyly with some associated features. Etiology, clinical features, differential diagnosis, and treatment have been elaborated in this clinical report.

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Year:  2017        PMID: 28230601     DOI: 10.1097/SCS.0000000000003600

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN: 1049-2275            Impact factor:   1.046


  1 in total

1.  Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.

Authors:  M Tajir; J Lyahyai; S Guaoua; M El Alloussi; A Sefiani
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519

  1 in total

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