Fibrochondrogenesis in male twins at 24 weeks gestation
- PMID: 2012139
- DOI: 10.1002/ajmg.1320380121
Fibrochondrogenesis in male twins at 24 weeks gestation
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.
Similar articles
-
The Ale-Calo syndrome in monozygotic twins associated with bilateral cryptorchidism--case report.Z Kinderchir. 1984 Apr;39(2):145-6. doi: 10.1055/s-2008-1044198. Z Kinderchir. 1984. PMID: 6145269
-
The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed.Clin Genet. 1990 Sep;38(3):237-9. Clin Genet. 1990. PMID: 2225533 No abstract available.
-
Unilateral isolated microphthalmia inherited as an autosomal recessive trait.Ophthalmic Genet. 2005 Dec;26(4):163-8. doi: 10.1080/13816810500468672. Ophthalmic Genet. 2005. PMID: 16352476
-
[The multiple exostoses syndrome. 3 cases in one family].Pediatr Med Chir. 1994 Jul-Aug;16(4):403-4. Pediatr Med Chir. 1994. PMID: 7816707 Review. Italian.
-
[Unusual osteo-chondrodysplasia: hereditary deforming exostoses. Apropos of a family].Tunis Med. 1987 Apr;65(4):255-60. Tunis Med. 1987. PMID: 3333109 Review. French. No abstract available.
Cited by
-
Metatropic dysplasia lethal variants.Pediatr Radiol. 2004 Jan;34(1):66-74. doi: 10.1007/s00247-003-1063-x. Epub 2003 Oct 18. Pediatr Radiol. 2004. PMID: 14566438
-
Fibrochondrogenesis.Indian J Pediatr. 2005 Apr;72(4):355-357. doi: 10.1007/BF02724021. Indian J Pediatr. 2005. PMID: 28386830
-
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246659 Free PMC article.
-
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035103 Free PMC article.
-
Case report 870. Schneckenbecken dysplasia, possibly a new variant.Skeletal Radiol. 1994 Oct;23(7):586-8. doi: 10.1007/BF00223100. Skeletal Radiol. 1994. PMID: 7824994
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources