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Thanatophoric Dwarfism
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Death-bearing dwarf
            • Definitions

              • Most common lethal skeletal dysplasia

            IMAGING

            • General Features

              • Imaging Recommendations

                • Radiographic Findings

                  • Head CT & Brain MR

                    • Prenatal Ultrasound

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  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. ePub, 2015
                                  2. Zhen L et al: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. J Obstet Gynaecol. 1-3, 2015
                                  3. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                  4. Chitty LS et al: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 33(5):416-23, 2013
                                  5. Nikkel SM et al: Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 1(2):75-8, 2013
                                  6. Vogt C et al: Thanatophoric dysplasia: autopsy findings over a 25-year period. Pediatr Dev Pathol. 16(3):160-7, 2013
                                  7. 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 dwarf
                                            • Definitions

                                              • Most common lethal skeletal dysplasia

                                            IMAGING

                                            • General Features

                                              • Imaging Recommendations

                                                • Radiographic Findings

                                                  • Head CT & Brain MR

                                                    • Prenatal Ultrasound

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Staging, Grading, & Classification

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

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