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Thanatophoric Dysplasia
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Thanatophoric dysplasia (TD), lethal skeletal dysplasia, thanatophoric dwarfism, lethal osteochondrodysplasia
            • Definitions

              • Lethal skeletal dysplasia due to activating mutations in fibroblast growth factor receptor 3 gene (FGFR3)
              • Divided into 2 main subtypes based on morphologic findings
              • Thanatophoric is Greek for death bearing

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Radiographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 35(7):656-62, 2015
                                    2. Del Piccolo N et al: Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. Biophys J. 108(2):272-8, 2015
                                    3. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                    4. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                    5. Xue Y et al: FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2(6):497-503, 2014
                                    6. Yamashita A et al: Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 513(7519):507-11, 2014
                                    7. Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
                                    8. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                    9. Barton C et al: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. Clin Dysmorphol. Epub ahead of print, 2010
                                    10. Martínez-Frías ML et al: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 152A(1):245-55, 2010
                                    11. Matsushita T et al: FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 18(2):227-40, 2009
                                    12. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
                                    13. Tsutsumi S et al: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther. 24(4):420-4, 2008
                                    14. Brodie SG et al: Mouse models orthologous to FGFR3-related skeletal dysplasias. Pediatr Pathol Mol Med. 22(1):87-103, 2003
                                    15. 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
                                    16. Kuno T et al: Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. Endocr J. 47 Suppl:S141-4, 2000
                                    17. Cohen MM Jr: Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. Int J Oral Maxillofac Surg. 27(6):451-5, 1998
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Synonyms

                                                • Thanatophoric dysplasia (TD), lethal skeletal dysplasia, thanatophoric dwarfism, lethal osteochondrodysplasia
                                              • Definitions

                                                • Lethal skeletal dysplasia due to activating mutations in fibroblast growth factor receptor 3 gene (FGFR3)
                                                • Divided into 2 main subtypes based on morphologic findings
                                                • Thanatophoric is Greek for death bearing

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Radiographic Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 35(7):656-62, 2015
                                                                      2. Del Piccolo N et al: Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. Biophys J. 108(2):272-8, 2015
                                                                      3. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                                                      4. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                                                      5. Xue Y et al: FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2(6):497-503, 2014
                                                                      6. Yamashita A et al: Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 513(7519):507-11, 2014
                                                                      7. Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
                                                                      8. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                                                      9. Barton C et al: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. Clin Dysmorphol. Epub ahead of print, 2010
                                                                      10. Martínez-Frías ML et al: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 152A(1):245-55, 2010
                                                                      11. Matsushita T et al: FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 18(2):227-40, 2009
                                                                      12. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
                                                                      13. Tsutsumi S et al: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther. 24(4):420-4, 2008
                                                                      14. Brodie SG et al: Mouse models orthologous to FGFR3-related skeletal dysplasias. Pediatr Pathol Mol Med. 22(1):87-103, 2003
                                                                      15. 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
                                                                      16. Kuno T et al: Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. Endocr J. 47 Suppl:S141-4, 2000
                                                                      17. Cohen MM Jr: Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. Int J Oral Maxillofac Surg. 27(6):451-5, 1998