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Multiple Pterygium Syndromes
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Multiple pterygium syndrome (MPS)
            • Definitions

              • Clinically and genetically heterogeneous group of syndromes characterized by multiple limb contractures (arthrogryposis) with soft tissue webbing across joints
              • Lethal MPS (LMPS) also with associated cystic hygroma, hydrops, and pulmonary hypoplasia

            IMAGING

            • Ultrasonographic Findings

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  • Gross Pathologic & Surgical Features

                    CLINICAL ISSUES

                    • Natural History & Prognosis

                      • Treatment

                        Selected References

                        1. Hakonen AH et al: Recessive MYH3 variants cause "contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Am J Med Genet A. 182(11):2605-10, 2020
                        2. Vogt J et al: A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. Clin Genet. 97(6):908-14, 2020
                        3. Mohtisham FS et al: Lethal multiple pterygium syndrome. BMJ Case Rep. 12(5), 2019
                        4. Abdalla E et al: Lethal multiple pterygium syndrome: a severe phenotype associated with a novel mutation in the nebulin gene. Neuromuscul Disord. 27(6):537-41, 2017
                        5. Chong JX et al: Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3. Am J Hum Genet. 96(5):841-9, 2015
                        6. Bissinger RL et al: Nonlethal multiple pterygium syndrome: Escobar syndrome. Adv Neonatal Care. 14(1):24-9, 2014
                        7. McKie AB et al: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2:148, 2014
                        8. Robinson KG et al: Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 161A(12):3042-8, 2013
                        9. Barros FS et al: Prenatal diagnosis of lethal multiple pterygium syndrome using two-and three-dimensional ultrasonography. J Clin Imaging Sci. 2:65, 2012
                        10. Vogt J et al: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 49(1):21-6, 2012
                        11. Gundogan M et al: First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 21(5):466-70, 2006
                        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

                                  • Abbreviations

                                    • Multiple pterygium syndrome (MPS)
                                  • Definitions

                                    • Clinically and genetically heterogeneous group of syndromes characterized by multiple limb contractures (arthrogryposis) with soft tissue webbing across joints
                                    • Lethal MPS (LMPS) also with associated cystic hygroma, hydrops, and pulmonary hypoplasia

                                  IMAGING

                                  • Ultrasonographic Findings

                                    DIFFERENTIAL DIAGNOSIS

                                      PATHOLOGY

                                      • General Features

                                        • Gross Pathologic & Surgical Features

                                          CLINICAL ISSUES

                                          • Natural History & Prognosis

                                            • Treatment

                                              Selected References

                                              1. Hakonen AH et al: Recessive MYH3 variants cause "contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Am J Med Genet A. 182(11):2605-10, 2020
                                              2. Vogt J et al: A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. Clin Genet. 97(6):908-14, 2020
                                              3. Mohtisham FS et al: Lethal multiple pterygium syndrome. BMJ Case Rep. 12(5), 2019
                                              4. Abdalla E et al: Lethal multiple pterygium syndrome: a severe phenotype associated with a novel mutation in the nebulin gene. Neuromuscul Disord. 27(6):537-41, 2017
                                              5. Chong JX et al: Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3. Am J Hum Genet. 96(5):841-9, 2015
                                              6. Bissinger RL et al: Nonlethal multiple pterygium syndrome: Escobar syndrome. Adv Neonatal Care. 14(1):24-9, 2014
                                              7. McKie AB et al: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2:148, 2014
                                              8. Robinson KG et al: Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 161A(12):3042-8, 2013
                                              9. Barros FS et al: Prenatal diagnosis of lethal multiple pterygium syndrome using two-and three-dimensional ultrasonography. J Clin Imaging Sci. 2:65, 2012
                                              10. Vogt J et al: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 49(1):21-6, 2012
                                              11. Gundogan M et al: First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 21(5):466-70, 2006