Literature DB >> 8669441

Craniofrontonasal syndrome: study of 41 patients.

D Saavedra1, A Richieri-Costa, M L Guion-Almeida, M M Cohen.   

Abstract

Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X-linked disorder. Unusual manifestations in females included thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), axillary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%), and asymmetric lower limb shortness (14%).

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Year:  1996        PMID： 8669441     DOI： 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

Review 1.  Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Authors:  Timothy J Edwards; Elliott H Sherr; A James Barkovich; Linda J Richards
Journal:  Brain       Date:  2014-01-28       Impact factor: 13.501

2.  Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Authors:  M E P van den Elzen; S R F Twigg; J A C Goos; A J M Hoogeboom; A M W van den Ouweland; A O M Wilkie; I M J Mathijssen
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

3.  A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.

Authors:  Jaime Toral-López; Luz M González-Huerta; Olga Messina Baas; Sergio A Cuevas-Covarrubias
Journal:  Mol Syndromol       Date:  2016-03-19

Review 4.  Genetic aspects of human congenital diaphragmatic hernia.

Authors:  B R Pober
Journal:  Clin Genet       Date:  2008-05-28       Impact factor: 4.438

5.  Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Authors:  Ilse Wieland; Sibylle Jakubiczka; Petra Muschke; Monika Cohen; Hannelore Thiele; Klaus L Gerlach; Ralf H Adams; Peter Wieacker
Journal:  Am J Hum Genet       Date:  2004-04-29       Impact factor: 11.025

6.  Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Authors:  Stephen R F Twigg; Rui Kan; Christian Babbs; Elena G Bochukova; Stephen P Robertson; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-27       Impact factor: 11.205

7.  Actual concepts in scaphocephaly : (an experience of 98 cases).

Authors:  A V Ciurea; C Toader; C Mihalache
Journal:  J Med Life       Date:  2011-11-24

8.  Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome.

Authors:  Oscar F Chacon-Camacho; Rocio Arce-Gonzalez; Vanessa Villegas-Ruiz; Erika Pelcastre-Luna; Conrado E Uría-Gómez; Mariella Granillo-Alvarez; Juan C Zenteno
Journal:  Meta Gene       Date:  2013-11-28

9.  A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome.

Authors:  M A Ramirez-Garcia; O F Chacon-Camacho; C Leyva-Hernandez; A Cardenas-Conejo; J C Zenteno
Journal:  Case Rep Genet       Date:  2013-02-21

Review 10.  Genetics of craniosynostosis: review of the literature.

Authors:  Alexandru Vlad Ciurea; Corneliu Toader
Journal:  J Med Life       Date:  2009 Jan-Mar
  10 in total

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