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Asphyxiating Thoracic Dystrophy of Jeune
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            Selected References

            1. O'Brien A et al: Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib. J Pediatr Orthop. ePub, 2015
            2. Sacco Casamassima MG et al: Operative management of acquired Jeune's syndrome. J Pediatr Surg. 49(1):55-60; discussion 60, 2014
            3. Baujat G et al: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 50(2):91-8, 2013
            4. Kontomanolis EN et al: Ultrasound diagnosis of recurring Jeune's syndrome: a case report. Clin Exp Obstet Gynecol. 40(1):162-4, 2013
            5. McInerney-Leo AM et al: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 93(3):515-23, 2013
            6. de Vries J et al: Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 169(1):77-88, 2010
            7. Tüysüz B et al: Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. Am J Med Genet A. 149A(8):1727-33, 2009
            8. Ho NC et al: Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet. 90(4):310-4, 2000
            9. Turkel SB et al: Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. 22(2):112-8, 1985
            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

                      Selected References

                      1. O'Brien A et al: Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib. J Pediatr Orthop. ePub, 2015
                      2. Sacco Casamassima MG et al: Operative management of acquired Jeune's syndrome. J Pediatr Surg. 49(1):55-60; discussion 60, 2014
                      3. Baujat G et al: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 50(2):91-8, 2013
                      4. Kontomanolis EN et al: Ultrasound diagnosis of recurring Jeune's syndrome: a case report. Clin Exp Obstet Gynecol. 40(1):162-4, 2013
                      5. McInerney-Leo AM et al: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 93(3):515-23, 2013
                      6. de Vries J et al: Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 169(1):77-88, 2010
                      7. Tüysüz B et al: Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. Am J Med Genet A. 149A(8):1727-33, 2009
                      8. Ho NC et al: Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet. 90(4):310-4, 2000
                      9. Turkel SB et al: Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. 22(2):112-8, 1985