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Thanatophoric Dysplasia
Nancy A. Chauvin, MD; Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Death-bearing dysplasia
            • Definitions

              • Most common lethal skeletal dysplasia

            IMAGING

            • General Features

              • Radiographic Findings

                • Prenatal Ultrasound

                  • CT Findings

                    • Head CT & Brain MR

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    Selected References

                                    1. Ushioda M et al: Development of individuals with thanatophoric dysplasia surviving beyond infancy. Pediatr Int. ePub, 2021
                                    2. Waratani M et al: Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study. BMC Musculoskelet Disord. 21(1):662, 2020
                                    3. 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
                                    4. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                    5. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                    6. Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
                                    7. Nikkel SM et al: Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 1(2):75-8, 2013
                                    8. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                    9. 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

                                              • Synonyms

                                                • Death-bearing dysplasia
                                              • Definitions

                                                • Most common lethal skeletal dysplasia

                                              IMAGING

                                              • General Features

                                                • Radiographic Findings

                                                  • Prenatal Ultrasound

                                                    • CT Findings

                                                      • Head CT & Brain MR

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Staging, Grading, & Classification

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      Selected References

                                                                      1. Ushioda M et al: Development of individuals with thanatophoric dysplasia surviving beyond infancy. Pediatr Int. ePub, 2021
                                                                      2. Waratani M et al: Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study. BMC Musculoskelet Disord. 21(1):662, 2020
                                                                      3. 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
                                                                      4. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                                                      5. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                                                      6. Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
                                                                      7. Nikkel SM et al: Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 1(2):75-8, 2013
                                                                      8. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                                                      9. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009