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

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Thanatophoric dysplasia (TD)

            • Synonyms

              • 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. Darouich S et al: Fetal skeletal dysplasias: radiologic-pathologic classification of 72 cases. Fetal Pediatr Pathol. 1-19, 2020
                                    2. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                    3. Zhang J et al: Non-invasive prenatal sequencing for multiple mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-47, 2019
                                    4. Ren Y et al: Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: test performance analysis and feasibility exploration. Prenat Diagn. 38(11):821-8, 2018
                                    5. Milks KS et al: Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. Pediatr Radiol. 47(2):134-45, 2017
                                    6. Barros CA et al: Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment. J Matern Fetal Neonatal Med. 29(11):1725-30, 2016
                                    7. Sahin S et al: A thanatophoric dysplasia type i case with a FGFR3 P.R248C mutation and survival beyond the neonatal period. Genet Couns. 27(4):513-7, 2016
                                    8. 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
                                    9. Del Piccolo N et al: Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. Biophys J. 108(2):272-8, 2015
                                    10. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                    11. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                    12. 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
                                    13. Yamashita A et al: Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 513(7519):507-11, 2014
                                    14. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                    15. Barton C et al: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. Clin Dysmorphol. 19(3):146-9, 2010
                                    16. 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
                                    17. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
                                    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

                                              • Abbreviations

                                                • Thanatophoric dysplasia (TD)

                                              • Synonyms

                                                • 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. Darouich S et al: Fetal skeletal dysplasias: radiologic-pathologic classification of 72 cases. Fetal Pediatr Pathol. 1-19, 2020
                                                                      2. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                                                      3. Zhang J et al: Non-invasive prenatal sequencing for multiple mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 25(3):439-47, 2019
                                                                      4. Ren Y et al: Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: test performance analysis and feasibility exploration. Prenat Diagn. 38(11):821-8, 2018
                                                                      5. Milks KS et al: Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. Pediatr Radiol. 47(2):134-45, 2017
                                                                      6. Barros CA et al: Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment. J Matern Fetal Neonatal Med. 29(11):1725-30, 2016
                                                                      7. Sahin S et al: A thanatophoric dysplasia type i case with a FGFR3 P.R248C mutation and survival beyond the neonatal period. Genet Couns. 27(4):513-7, 2016
                                                                      8. 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
                                                                      9. Del Piccolo N et al: Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. Biophys J. 108(2):272-8, 2015
                                                                      10. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                                                      11. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                                                      12. 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
                                                                      13. Yamashita A et al: Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 513(7519):507-11, 2014
                                                                      14. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                                                      15. Barton C et al: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. Clin Dysmorphol. 19(3):146-9, 2010
                                                                      16. 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
                                                                      17. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009