Literature DB >> 3233778

Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.

C E Wallis1.   

Abstract

Five members of a four-generation Mauritian family with ectrodactyly (split-hand/split-foot deformity) and ectodermal dysplasia but without clefting of the lip or palate have been investigated. The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia manifested as hypotrichosis and abnormal dentition. Distinction is drawn between this autosomal dominant condition and the classical EEC syndrome; independent syndromic status is proposed.

Entities:  

Mesh:

Year:  1988        PMID: 3233778     DOI: 10.1111/j.1399-0004.1988.tb02872.x

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


  6 in total

1.  Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Nabil Nassib; Hatem Safi; Mrad Djnziri; Maher Ben Ghachem; Hassan Gharbi
Journal:  Afr Health Sci       Date:  2005-09       Impact factor: 0.927

Review 2.  Splitting p63.

Authors:  Hans van Bokhoven; Han G Brunner
Journal:  Am J Hum Genet       Date:  2002-05-30       Impact factor: 11.025

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.  Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome.

Authors:  Nihal Hatipoğlu; Selim Kurtoğlu; Derya Büyükayhan; Mustafa Akçakuş
Journal:  J Clin Res Pediatr Endocrinol       Date:  2009-08-08

Review 5.  Update on 13 Syndromes Affecting Craniofacial and Dental Structures.

Authors:  Theodosia N Bartzela; Carine Carels; Jaap C Maltha
Journal:  Front Physiol       Date:  2017-12-14       Impact factor: 4.566

6.  Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.

Authors:  Yuki Otsuki; Koichi Ueda; Chisei Satoh; Ryuta Maekawa; Koh-Ichiro Yoshiura; Sachiko Iseki
Journal:  Plast Reconstr Surg Glob Open       Date:  2016-12-22
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.