Literature DB >> 25737931

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Monika Koul1, Rahul Dwivedi2, Vinod Upadhyay3.   

Abstract

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation <SHFM>/split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Entities:  

Keywords:  EEC syndrome; Ectodermal dysplasia; Ectrodactyly; SHFM

Year:  2014        PMID： 25737931      PMCID： PMC4252378          DOI： 10.1016/j.jobcr.2014.08.002

Source DB:  PubMed          Journal:  J Oral Biol Craniofac Res        ISSN： 2212-4268


  9 in total

Review 1.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

2.  ADULT syndrome caused by a mutation previously associated with EEC syndrome.

Authors:  Emily Avitan-Hersh; Margarita Indelman; Reuven Bergman; Eli Sprecher
Journal:  Pediatr Dermatol       Date:  2010-11-16       Impact factor: 1.588

3.  Two cases in which the skin, hair and teeth were very imperfectly developed.

Authors:  J Thurnam
Journal:  Med Chir Trans       Date:  1848

4.  Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.

Authors:  R A Rüdiger; W Haase; E Passarge
Journal:  Am J Dis Child       Date:  1970-08

Review 5.  Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.

Authors:  B Ruhin; V Martinot; P Lafforgue; B Catteau; S Manouvrier-Hanu; J Ferri
Journal:  Cleft Palate Craniofac J       Date:  2001-09

6.  Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

Authors:  J R O'Quinn; R C Hennekam; L B Jorde; M Bamshad
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

7.  Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

Authors:  L L Barrow; H van Bokhoven; S Daack-Hirsch; T Andersen; S E C van Beersum; R Gorlin; J C Murray
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 8.  Ectodermal dysplasias: a clinical classification and a causal review.

Authors:  M Pinheiro; N Freire-Maia
Journal:  Am J Med Genet       Date:  1994-11-01

9.  Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome).

Authors:  Mohita Marwaha; Kanwar Deep Singh Nanda
Journal:  Contemp Clin Dent       Date:  2012-04
  9 in total
  4 in total

1.  Self-Assessment of Oral Health-Related Quality of Life in People with Ectodermal Dysplasia in Germany.

Authors:  Marcel Hanisch; Sonja Sielker; Susanne Jung; Johannes Kleinheinz; Lauren Bohner
Journal:  Int J Environ Res Public Health       Date:  2019-05-31       Impact factor: 3.390

2.  Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.

Authors:  Aldona Pietrzak; Bartlomiej Wawrzycki; Matthias Schmuth; Katarzyna Wertheim-Tysarowska
Journal:  Orphanet J Rare Dis       Date:  2022-02-16       Impact factor: 4.123

3.  Use of FACIAL ARTERY MUSCULOMUCOSAL and Turbinate Flaps for Rapp Hodgkin Syndrome.

Authors:  Mahdy Saboury; Noor Ahmad Latifi; Shahriar Saboury; Moosa Saboury
Journal:  World J Plast Surg       Date:  2022-07

4.  SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Authors:  Rafael Fabiano Machado Rosa; Samir Abou Ghaouche de Moraes; Leonardo Paludo Sulczinski; Filipe Augusto da Silva; Olga Gaio Milner; Silvana Rodrigues Streit Pires; Osvaldo Alfonso Pinto Artigalas; Rosana Cardoso Manique Rosa; Paulo Ricardo Gazzola Zen
Journal:  Rev Paul Pediatr       Date:  2017-05-15
  4 in total

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