Literature DB >> 7735500

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

W Reardon1, R M Winter, L T Smith, B D Lake, M Rossiter, M Baraitser.   

Abstract

Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable similarity of physical signs in all four cases. The striking skin fragility which attends the phenotype is highly distinctive, so that the diagnosis may be suspected on clinical grounds. The confirmatory diagnostic procedures are discussed.

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Year:  1995        PMID: 7735500

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  4 in total

Review 1.  Ehlers-Danlos syndrome has varied molecular mechanisms.

Authors:  F M Pope; N P Burrows
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

2.  Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Authors:  A Colige; A L Sieron; S W Li; U Schwarze; E Petty; W Wertelecki; W Wilcox; D Krakow; D H Cohn; W Reardon; P H Byers; C M Lapière; D J Prockop; B V Nusgens
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

3.  Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.

Authors:  Ana Rosa Rincón-Sánchez; Irma Elia Arce; Enrique Alejandro Tostado-Rabago; Alberto Vargas; Luis Alfredo Padilla-Gómez; Alejandro Bolaños; Selenne Barrios-Guyot; Víctor Manuel Anguiano-Alvarez; Víctor Chistian Ledezma-Rodríguez; María Cristina Islas-Carbajal; Ana María Rivas-Estilla; Alfredo Feria-Velasco; Nory Omayra Dávalos
Journal:  Case Rep Dermatol       Date:  2012-04-20

4.  Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Authors:  Tim Van Damme; Alain Colige; Delfien Syx; Cecilia Giunta; Uschi Lindert; Marianne Rohrbach; Omid Aryani; Yasemin Alanay; Pelin Özlem Simsek-Kiper; Hester Y Kroes; Koen Devriendt; Marc Thiry; Sofie Symoens; Anne De Paepe; Fransiska Malfait
Journal:  Genet Med       Date:  2016-01-14       Impact factor: 8.822

  4 in total

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