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

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            Selected References

            1. Adamo L et al: Prenatal diagnosis of Jeune syndrome by whole-exome sequencing in a case with mild skeletal changes. J Ultrasound Med. 39(9):1869-71, 2020
            2. 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. 35(8):783-97, 2015
            3. Sacco Casamassima MG et al: Operative management of acquired Jeune's syndrome. J Pediatr Surg. 49(1):55-60; discussion 60, 2014
            4. Baujat G et al: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 50(2):91-8, 2013
            5. Kontomanolis EN et al: Ultrasound diagnosis of recurring Jeune's syndrome: a case report. Clin Exp Obstet Gynecol. 40(1):162-4, 2013
            6. 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
            7. 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
            8. 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
            9. 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
            10. 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. Adamo L et al: Prenatal diagnosis of Jeune syndrome by whole-exome sequencing in a case with mild skeletal changes. J Ultrasound Med. 39(9):1869-71, 2020
                      2. 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. 35(8):783-97, 2015
                      3. Sacco Casamassima MG et al: Operative management of acquired Jeune's syndrome. J Pediatr Surg. 49(1):55-60; discussion 60, 2014
                      4. Baujat G et al: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet. 50(2):91-8, 2013
                      5. Kontomanolis EN et al: Ultrasound diagnosis of recurring Jeune's syndrome: a case report. Clin Exp Obstet Gynecol. 40(1):162-4, 2013
                      6. 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
                      7. 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
                      8. 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
                      9. 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
                      10. Turkel SB et al: Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. 22(2):112-8, 1985