Diagnostic Histopathology
Volume 15, Issue 9 , Pages 413-424 , September 2009

Diagnostic approach to congenital osteochondrodysplasias at autopsy

References 

  1. Kornak U, Mundlos S. Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet. 2003;73:447–474
  2. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet. 2007;143:1–18
  3. Spranger J, Brill PW, Poznanski A. Bone dysplasias. An atlas of genetic disorders of skeletal development. 2nd edn. Munich: Urban and Fischer Verlag and Oxford University Press Inc.; 2003;
  4. Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB. Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet. 1996;61:49–58
  5. Spranger J. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone. Eur J Pediatr. 1992;151:407–415
  6. Superti-Furga A, Bonafe L, Rimoin DL. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet. 2001;106:282–293
  7. Superti-Furga A, Hastbacka J, Wilcox WR, et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996;12:100–102
  8. van der Harten HJ, Brons JT, Schipper NW, Dijkstra PF, Meijer CJ, van Geijn HP. The prenatal development of the normal human skeleton: a combined ultrasonographic and post-mortem radiographic study. Pediatr Radiol. 1990;21:52–56
  9. Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?. Pediatr Radiol. 2003;33:153–161
  10. Nikkels PGJ. The skeletal system. In:  Keeling JW,  Khong TY editor. Fetal and neonatal pathology. 4th edn. London: Springer; 2007;p. 770–794
  11. Zankl A, Neumann L, Ignatius J, et al. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet. 2005;133:61–67
  12. Nikkels PG, Stigter RH, Knol IE, van der Harten HJ. Schneckenbecken dysplasia, radiology, and histology. Pediatr Radiol. 2001;31:27–30
  13. Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am J Med Genet. 1996;63:144–147
  14. Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405–410
  15. Feng Y, Walsh CA. The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol. 2004;6:1034–1038
  16. Elcioglu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. Am J Med Genet. 2002;111:392–400
  17. Leeners B, Funk A, Cotarelo CL, Sauer I. Two sibs with fibrochondrogenesis. Am J Med Genet. 2004;127:318–320
  18. Hiraoka S, Furuichi T, Nishimura G, et al. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007;13:1363–1367
  19. Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17:229–241
  20. Wessels MW, Den Hollander NJ, de Krijger RR, et al. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review. Am J Med Genet. 2003;120:97–104
  21. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–116
  22. Marini JC, Cabral WA, Barnes AM, Chang W. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle. 2007;6:1675–1681
  23. Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007;39:359–365

PII: S1756-2317(09)00129-7

doi: 10.1016/j.mpdhp.2009.06.004

Diagnostic Histopathology
Volume 15, Issue 9 , Pages 413-424 , September 2009

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