Literature DB >> 2553970

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

J Christodoulou1, P N McDougall, L J Sheffield.   

Abstract

We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.

Entities:  

Mesh：

Year:  1989        PMID： 2553970      PMCID： PMC1015700          DOI： 10.1136/jmg.26.9.586

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome.

Authors:  F Majewski; W Küster
Journal:  Clin Genet       Date:  1988-02       Impact factor: 4.438

2.  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

3.  Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.

Authors:  S Ohdo; K Hirayama; T Terawaki
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

4.  EEC syndrome without ectrodactyly? Report of 8 cases.

Authors:  W Küster; F Majewski; P Meinecke
Journal:  Clin Genet       Date:  1985-08       Impact factor: 4.438

5.  Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Authors:  P Bowen; H B Armstrong
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

6.  Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.

Authors:  V B Penchaszadeh; T C de Negrotti
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

7.  Urinary tract involvement in EEC syndrome.

Authors:  R London; R M Heredia; J Israel
Journal:  Am J Dis Child       Date:  1985-12

8.  Ectrodactyly, cleft lip and palate in two half sibs.

Authors:  M B Lewis; H M Pashayan
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

9.  Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

Authors:  S L Greene; V V Michels; J A Doyle
Journal:  Am J Med Genet       Date:  1987-05

Review 10.  Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.

Authors:  G Oğur; M Yüksel
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318
  10 in total
  4 in total

1.  Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case.

Authors:  K Tucker; A Lipson
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

2.  Pollicization of Middle Finger in a Cleft Hand Associated with Acrorenal Syndrome.

Authors:  Rajendra S Gujjalanavar; Marichamy R Muthukishore; R Jainath; Sathya Vamsi Krishna
Journal:  J Hand Microsurg       Date:  2020-04-28

3.  Twenty-four cases of the EEC syndrome: clinical presentation and management.

Authors:  P W Buss; H E Hughes; A Clarke
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

4.  Two case reports with literature review of the EEC syndrome: Clinical presentation and management.

Authors:  Marcello Augello; Britt-Isabelle Berg; Andreas Albert Müller; Katja Schwenzer-Zimmerer
Journal:  Case Reports Plast Surg Hand Surg       Date:  2015-09-24
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.