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  Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman

Rajab, A., Kornak, U., Budde, B. S., Hoffmann, K., Jaeken, J., Nürnberg, P., et al. (2008). Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics Part A, 146A(8), 965-976. doi:10.1002/ajmg.a.32143.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7FD6-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7FD7-0
Genre: Journal Article
Alternative Title : Am J Med Genet A.

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 Creators:
Rajab, Anna, Author
Kornak, U.1, Author              
Budde, B. S., Author
Hoffmann, K.1, Author              
Jaeken, J., Author
Nürnberg, P., Author
Mundlos, S.1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: wrinkly skin syndrome (WSS) • geroderma osteodysplastica hereditaria (GO) • Bamatter syndrome • cutis laxa with growth and developmental delay (CLGDD) • autosomal recessive cutis laxa type II • osteopenia • scoliosis • wrinkly skin • loose joints • abnormal hair • dental caries • mental retardation
 Abstract: Excessive skin wrinkling and cutis laxa are seen in many genetic conditions and overlapping features can make a clinical diagnosis difficult. Here we report on 22 Omani patients from 11 consanguineous families with the diagnosis of wrinkly skin syndrome (WSS, OMIM 278250) or geroderma osteodysplasticum hereditaria (GO, OMIM 231070). The WSS phenotype evolves during early childhood and includes a generalized and excessive skin wrinkling, dental problems, herniae, foot deformities, hip dislocations, growth retardation, and a large anterior fontanelle. The facial gestalt is characterized by a broad nasal bridge, hypertelorism, and downslanting palpebral fissures. We were unable to differentiate between WSS and cutis laxa with growth and developmental delay (CLGDD, OMIM 219200) suggesting that both can be considered as one entity. Distinct hallmarks of GO were skin wrinkling limited to the dorsum of hands and feet and to the abdomen, normal fontanelles, maxillary hypoplasia, bowed long bones, and osteopenia with frequent fractures. In contrast to the attenuation of the skin phenotype with age in WSS, adult patients with GO appeared prematurely aged. A serum sialotransferrin type 2 pattern was found in all four WSS patients tested. Apolipoprotein CIII (a marker for O-glycosylation) was normal suggesting that WSS is frequently associated with a N-protein glycosylation defect, probably at the level of processing (CDG-II). All four investigated GO patients showed normal sialotransferrin patterns. The known loci for cutis laxa and WSS on 2q31, 5q23-q31, 7q11, 11q13, and 14q32 were excluded. We suggest that WSS and GO are distinct entities with overlapping features.

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Language(s): eng - English
 Dates: 2008-05-17
 Publication Status: Published in print
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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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Pages: - Volume / Issue: 146A (8) Sequence Number: - Start / End Page: 965 - 976 Identifier: -