Literature DB >> 2012139

Fibrochondrogenesis in male twins at 24 weeks gestation.

A Bankier1, D Fortune, J Duke, D O Sillence.   

Abstract

Fibrochondrogenesis is a rare lethal chondrodysplasia. Only 5 cases have been reported. We report on a pair of affected twins diagnosed at 24 weeks of gestation. Occurrence in sibs and consanguinity in the parents in a previous report support autosomal recessive transmission.

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Year:  1991        PMID： 2012139     DOI： 10.1002/ajmg.1320380121

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


  5 in total

1.  Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Authors:  Stuart W Tompson; Carlos A Bacino; Nicole P Safina; Michael B Bober; Virginia K Proud; Tara Funari; Michael F Wangler; Lisette Nevarez; Leena Ala-Kokko; William R Wilcox; David R Eyre; Deborah Krakow; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

2.  Fibrochondrogenesis.

Authors:  M L Kulkarni; Prakash S Matadh; S P Praveen Prabhu; Preeti M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-04       Impact factor: 1.967

3.  Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Authors:  Stuart W Tompson; Eissa Ali Faqeih; Leena Ala-Kokko; Jacqueline T Hecht; Rika Miki; Tara Funari; Vincent A Funari; Lisette Nevarez; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2012-01-13       Impact factor: 2.802

4.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18

5.  Case report 870. Schneckenbecken dysplasia, possibly a new variant.

Authors:  D Sillence; W Delprado; M Edwards; K Kozlowski
Journal:  Skeletal Radiol       Date:  1994-10       Impact factor: 2.199
  5 in total

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