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Achondrogenesis, Hypochondrogenesis
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Definitions

            • Group of lethal osteochondrodysplasias due to failure of cartilaginous matrix formation
              • Characterized by severe micromelia, unossified spine, short trunk, and disproportionately large head
            • 3 main subtypes based on clinical features
              • Type IA achondrogenesis (Houston-Harris)
              • Type IB achondrogenesis (Fraccaro)
              • Type II achondrogenesis (Langer-Saldino)
            • Hypochondrogenesis
              • Allelic disorder similar to achondrogenesis type II

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Other Modality Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Microscopic Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Heinrich T et al: Co-occurence of reciprocal translocation and COL2A1 mutation in a fetus with severe skeletal dysplasia: implications for genetic counseling. cytogenet genome res. 145(1):25-8, 2015
                                      2. Weisman PS et al: Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. Pediatr Dev Pathol. 17(1):10-20, 2014
                                      3. Grigelioniene G et al: The phenotype range of achondrogenesis 1A. Am J Med Genet A. 161A(10):2554-8, 2013
                                      4. Dawson PA: Sulfate in fetal development. Semin Cell Dev Biol. 22(6):653-9, 2011
                                      5. Comstock JM et al: Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am J Med Genet A. 152A(7):1822-4, 2010
                                      6. Dighe M et al: Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics. 2008 Jul-Aug;28(4):1061-77. Review. Erratum in: Radiographics. 29(2):638, 2009
                                      7. Krakow D et al: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 11(2):127-33, 2009
                                      8. Krakow D et al: Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 146A(15):1917-24, 2008
                                      9. Wainwright H et al: Visceral manifestations of hypochondrogenesis. Virchows Arch. 453(2):203-7, 2008
                                      10. Forzano F et al: A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A. 143A(23):2815-20, 2007
                                      11. Dertinger S et al: Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). Front Biosci. 10:446-53, 2005
                                      12. Faivre L et al: Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 126(3):308-12, 2004
                                      13. Krakow D et al: Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. 21(5):467-72, 2003
                                      14. Corsi A et al: Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. Arch Pathol Lab Med. 125(10):1375-8, 2001
                                      15. Karniski LP: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 10(14):1485-90, 2001
                                      16. Körkkö J et al: Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 92(2):95-100, 2000
                                      17. Mortier GR et al: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 37(4):263-71, 2000
                                      18. Gabrielli S et al: Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high-risk patients? Ultrasound Obstet Gynecol. 13(2):107-11, 1999
                                      19. Jaeger HJ et al: The boneless neonate: a severe form of achondrogenesis type I. Pediatr Radiol. 24(5):319-21, 1994
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              TERMINOLOGY

                                              • Definitions

                                                • Group of lethal osteochondrodysplasias due to failure of cartilaginous matrix formation
                                                  • Characterized by severe micromelia, unossified spine, short trunk, and disproportionately large head
                                                • 3 main subtypes based on clinical features
                                                  • Type IA achondrogenesis (Houston-Harris)
                                                  • Type IB achondrogenesis (Fraccaro)
                                                  • Type II achondrogenesis (Langer-Saldino)
                                                • Hypochondrogenesis
                                                  • Allelic disorder similar to achondrogenesis type II

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Other Modality Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Staging, Grading, & Classification

                                                            • Microscopic Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      DIAGNOSTIC CHECKLIST

                                                                      • Consider

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Heinrich T et al: Co-occurence of reciprocal translocation and COL2A1 mutation in a fetus with severe skeletal dysplasia: implications for genetic counseling. cytogenet genome res. 145(1):25-8, 2015
                                                                          2. Weisman PS et al: Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. Pediatr Dev Pathol. 17(1):10-20, 2014
                                                                          3. Grigelioniene G et al: The phenotype range of achondrogenesis 1A. Am J Med Genet A. 161A(10):2554-8, 2013
                                                                          4. Dawson PA: Sulfate in fetal development. Semin Cell Dev Biol. 22(6):653-9, 2011
                                                                          5. Comstock JM et al: Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am J Med Genet A. 152A(7):1822-4, 2010
                                                                          6. Dighe M et al: Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics. 2008 Jul-Aug;28(4):1061-77. Review. Erratum in: Radiographics. 29(2):638, 2009
                                                                          7. Krakow D et al: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 11(2):127-33, 2009
                                                                          8. Krakow D et al: Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 146A(15):1917-24, 2008
                                                                          9. Wainwright H et al: Visceral manifestations of hypochondrogenesis. Virchows Arch. 453(2):203-7, 2008
                                                                          10. Forzano F et al: A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A. 143A(23):2815-20, 2007
                                                                          11. Dertinger S et al: Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). Front Biosci. 10:446-53, 2005
                                                                          12. Faivre L et al: Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 126(3):308-12, 2004
                                                                          13. Krakow D et al: Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. 21(5):467-72, 2003
                                                                          14. Corsi A et al: Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. Arch Pathol Lab Med. 125(10):1375-8, 2001
                                                                          15. Karniski LP: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 10(14):1485-90, 2001
                                                                          16. Körkkö J et al: Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 92(2):95-100, 2000
                                                                          17. Mortier GR et al: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 37(4):263-71, 2000
                                                                          18. Gabrielli S et al: Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high-risk patients? Ultrasound Obstet Gynecol. 13(2):107-11, 1999
                                                                          19. Jaeger HJ et al: The boneless neonate: a severe form of achondrogenesis type I. Pediatr Radiol. 24(5):319-21, 1994