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Thanatophoric Dwarfism
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Thanatophoric dysplasia (TD)

              IMAGING

              • General Features

                • Radiographic Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Barkova E et al: Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. Clin Genet. ePub, 2014
                                            2. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                            3. Wang DC et al: Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. Ultrasound Obstet Gynecol. 44(5):588-94, 2014
                                            4. Nikkel SM et al: Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 1(2):75-8, 2013
                                            5. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
                                            6. Indu PS et al: Thanatophoric dysplasia: a case report and review of literature. Indian J Pathol Microbiol. 50(3):589-92, 2007
                                            7. Hevner RF: The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol. 110(3):208-21, 2005
                                            8. Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
                                            9. Schild RL et al: Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis. Ultrasound Obstet Gynecol. 8(1):62-7, 1996
                                            10. Taybi H, Lachman RS: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 939-943, 1996
                                            11. Rouse GA et al: Short-limb skeletal dysplasias: evaluation of the fetal spine with sonography and radiography. Radiology. 174(1):177-80, 1990
                                            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

                                                      • Diagnostic Checklist

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Thanatophoric dysplasia (TD)

                                                        IMAGING

                                                        • General Features

                                                          • Radiographic Findings

                                                            • Ultrasonographic Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Barkova E et al: Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. Clin Genet. ePub, 2014
                                                                                      2. Pazzaglia UE et al: Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Skeletal Radiol. 43(9):1205-15, 2014
                                                                                      3. Wang DC et al: Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. Ultrasound Obstet Gynecol. 44(5):588-94, 2014
                                                                                      4. Nikkel SM et al: Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep. 1(2):75-8, 2013
                                                                                      5. Miller E et al: Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 192(1):48-51, 2009
                                                                                      6. Indu PS et al: Thanatophoric dysplasia: a case report and review of literature. Indian J Pathol Microbiol. 50(3):589-92, 2007
                                                                                      7. Hevner RF: The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol. 110(3):208-21, 2005
                                                                                      8. Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
                                                                                      9. Schild RL et al: Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis. Ultrasound Obstet Gynecol. 8(1):62-7, 1996
                                                                                      10. Taybi H, Lachman RS: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 939-943, 1996
                                                                                      11. Rouse GA et al: Short-limb skeletal dysplasias: evaluation of the fetal spine with sonography and radiography. Radiology. 174(1):177-80, 1990