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  Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Shafeghati, Y., Kahrizi, K., Najmabadi, H., Kuss, A. W., Ropers, H.-H., & Tzschach, A. (2010). Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. European Journal of Pediatrics, 169(12), 1535-1539. doi:10.1007/s00431-010-1267-7.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7AA6-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7AA7-8
Genre: Journal Article
Alternative Title : Eur J Pediatr

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 Creators:
Shafeghati, Yousef, Author
Kahrizi, Kimia, Author
Najmabadi, Hossein, Author
Kuss, Andreas Walter1, Author
Ropers, Hans-Hilger2, Author              
Tzschach, Andreas2, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. 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: Brachyphalangy; Polydactyly and tibial aplasia/hypoplasia syndrome; Consanguinity; Polydactyly; Tibial aplasia
 Abstract: Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects.

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Language(s): eng - English
 Dates: 2010-07-26
 Publication Status: Published in print
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Title: European Journal of Pediatrics
  Alternative Title : Eur J Pediatr
Source Genre: Journal
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Pages: - Volume / Issue: 169 (12) Sequence Number: - Start / End Page: 1535 - 1539 Identifier: ISSN: 0340-6199