Literature DB >> 3035184

Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?

J Zlotogora, Y Zilberman, A Tenenbaum, M R Wexler.   

Abstract

Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.

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Year:  1987        PMID: 3035184      PMCID: PMC1050053          DOI: 10.1136/jmg.24.5.291

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


  1 in total

1.  Syndromes with cleft lip and cleft palate.

Authors:  M M Cohen
Journal:  Cleft Palate J       Date:  1978-10
  1 in total
  10 in total

Review 1.  Nectin family of cell-adhesion molecules: structural and molecular aspects of function and specificity.

Authors:  Dibyendu Samanta; Steven C Almo
Journal:  Cell Mol Life Sci       Date:  2014-10-19       Impact factor: 9.261

2.  Syndactyly, ectodermal dysplasia, and cleft lip and palate.

Authors:  J Zlotogora; G Ogur
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

3.  Syndactyly, ectodermal dysplasia, and cleft lip/palate.

Authors:  J Zlotogora
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

4.  Ectodermal dysplasias: a new clinical-genetic classification.

Authors:  M Priolo; C Laganà
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

5.  Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

Authors:  Paola Fortugno; Emmanuelle Josselin; Konstantinos Tsiakas; Emanuele Agolini; Gianluca Cestra; Massimo Teson; René Santer; Daniele Castiglia; Giuseppe Novelli; Bruno Dallapiccola; Ingo Kurth; Marc Lopez; Giovanna Zambruno; Francesco Brancati
Journal:  J Invest Dermatol       Date:  2014-02-27       Impact factor: 8.551

Review 6.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07

7.  Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

Authors:  K Suzuki; T Bustos; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

8.  p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.

Authors:  Maria Rosaria Mollo; Dario Antonini; Karen Mitchell; Paola Fortugno; Antonio Costanzo; Jill Dixon; Francesco Brancati; Caterina Missero
Journal:  Exp Dermatol       Date:  2015-02       Impact factor: 3.960

9.  Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.

Authors:  Manisha Goyal; Gaurav Pradhan; Sunita Gupta; Seema Kapoor
Journal:  Contemp Clin Dent       Date:  2015 Jan-Mar

10.  Afadin requirement for cytokine expressions in keratinocytes during chemically induced inflammation in mice.

Authors:  Toshiyuki Yoshida; Takanori Iwata; Yoshimi Takai; Walter Birchmeier; Masayuki Yamato; Teruo Okano
Journal:  Genes Cells       Date:  2014-10-09       Impact factor: 1.891

  10 in total

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