Literature DB >> 3359668

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

F Majewski1, W Küster.   

Abstract

We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.

Entities:  

Mesh：

Year:  1988        PMID： 3359668

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Two interesting cases of EEC syndrome.

Authors:  Mariyam Iqbal Ali; K Aravinda; Nitin Kumar Nigam; Iqbal Ali
Journal:  J Oral Biol Craniofac Res       Date:  2013-02-13

2.  EEC syndrome without ectrodactyly: report of two new families.

Authors:  J P Fryns; E Legius; A M Dereymaeker; H Van den Berghe
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

3.  EEC syndrome with diabetes insipidus and hypogonadism.

Authors:  J M Kuna; P Clayton; D B Grant
Journal:  Eur J Pediatr       Date:  1994-04       Impact factor: 3.183

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

Authors:  J Christodoulou; P N McDougall; L J Sheffield
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.