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  Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)

Graul-Neumann, L. M., Stieler, K. M., Blume-Peytavi, U., & Tzschach, A. (2009). Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). American Journal of Medical Genetics Part A, 149(4), 746-750. doi:10.1002/ajmg.a.32728.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7DC6-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7DC7-A
Genre: Journal Article
Alternative Title : Am J Med Genet A

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 Creators:
Graul-Neumann, Luitgard M., Author
Stieler, Karola M., Author
Blume-Peytavi, Ulrike, Author
Tzschach, Andreas1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Focal facial dermal dysplasia; Setleis syndrome; Brauer syndrome; Setleis-Brauer syndrome; Forceps marks syndrome; Autosomal dominant; Nystagmus
 Abstract: Focal facial dermal dysplasia (FFDD) (OMIM 227260) is a rare ectodermal disorder characterized by congenital bitemporal scar-like depressions resembling forceps marks and variable additional facial manifestations. No gene defects or gene loci for FFDD are known to date. We report on a large multi-generational German family with typical characteristics of FFDD and provide a detailed clinical description of four affected individuals. They had large bitemporal discolored dermal depressions, sparse lateral eyebrows, abnormal eyelashes, and dysplastic and low-set ears. Three of the four affected individuals had congenital horizontal nystagmus, which had hitherto only been reported in a single patient with FFDD. In contrast to previous assumptions about an autosomal recessive etiology of this disorder, this family provides further evidence that FFDD is inherited in an autosomal dominant mode. Although this family is not large enough to yield significant results in linkage analysis, it may, in combination with other families, contribute to the identification of a gene locus for this intriguing ectodermal disorder.

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Language(s): eng - English
 Dates: 2009-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 149 (4) Sequence Number: - Start / End Page: 746 - 750 Identifier: ISSN: 1552-4825