Literature DB >> 2325090

EEC syndrome without ectrodactyly: report of two new families.

J P Fryns1, E Legius, A M Dereymaeker, H Van den Berghe.   

Abstract

In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.

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Year:  1990        PMID： 2325090      PMCID： PMC1016998          DOI： 10.1136/jmg.27.3.165

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


  8 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.  [Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].

Authors:  R A Pfeiffer; C Verbeck
Journal:  Z Kinderheilkd       Date:  1973-10-01

3.  The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature.

Authors:  D Bixler; J Spivack; J Bennett; J C Christian
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

4.  The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.

Authors:  C B Brill; L Y Hsu; K Hirschhorn
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

5.  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

6.  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

7.  [Genetic characteristics of the "EEC" syndrome (ectrodactyly, ectodermal dysplasis, cheilognathopalatoschisis)].

Authors:  I V Lur'e; G I Laziuk; Iu I Usova
Journal:  Genetika       Date:  1976

8.  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
  8 in total
  4 in total

1.  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

2.  An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.

Authors:  Emma Vernersson Lindahl; Elvin L Garcia; Alea A Mills
Journal:  Am J Med Genet A       Date:  2013-06-14       Impact factor: 2.802

3.  Familial clustering of a rare syndrome.

Authors:  Jayashree Nadkarni; Hari Ganesh; Rashmi Dwivedi
Journal:  Indian J Hum Genet       Date:  2011-01

4.  PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China.

Authors:  Jing Wang; Yuanzhi Xu; Jing Chen; Feiyu Wang; Renhuan Huang; Songtao Wu; Linjing Shu; Jingyi Qiu; Zhi Yang; Junjie Xue; Raorao Wang; Jilin Zhao; Wenli Lai
Journal:  J Appl Oral Sci       Date:  2013       Impact factor: 2.698
  4 in total

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