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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. Bisht RU et al: Hypochondrogenesis: a pictorial assay combining ultrasound, MRI and low-dose computerized tomography. Clin Imaging. 69:363-8, 2020
                                      2. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                      3. Sato T et al: Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. Am J Med Genet A. 182(4):735-39, 2020
                                      4. Wang W et al: Diagnosis of prenatal-onset achondrogenesis type II by a multidisciplinary assessment: a retrospective study of 2 cases. Case Rep Obstet Gynecol. 2019:7981767, 2019
                                      5. Bird IM et al: The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 145(1), 2018
                                      6. Vanegas S et al: Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 11:69-73, 2018
                                      7. 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
                                      8. 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
                                      9. Grigelioniene G et al: The phenotype range of achondrogenesis 1A. Am J Med Genet A. 161A(10):2554-8, 2013
                                      10. 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
                                      11. 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
                                      12. Krakow D et al: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 11(2):127-33, 2009
                                      13. 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
                                      14. 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
                                      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. Bisht RU et al: Hypochondrogenesis: a pictorial assay combining ultrasound, MRI and low-dose computerized tomography. Clin Imaging. 69:363-8, 2020
                                                                          2. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                                                          3. Sato T et al: Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. Am J Med Genet A. 182(4):735-39, 2020
                                                                          4. Wang W et al: Diagnosis of prenatal-onset achondrogenesis type II by a multidisciplinary assessment: a retrospective study of 2 cases. Case Rep Obstet Gynecol. 2019:7981767, 2019
                                                                          5. Bird IM et al: The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 145(1), 2018
                                                                          6. Vanegas S et al: Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 11:69-73, 2018
                                                                          7. 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
                                                                          8. 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
                                                                          9. Grigelioniene G et al: The phenotype range of achondrogenesis 1A. Am J Med Genet A. 161A(10):2554-8, 2013
                                                                          10. 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
                                                                          11. 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
                                                                          12. Krakow D et al: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 11(2):127-33, 2009
                                                                          13. 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
                                                                          14. 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