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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

            • Definitions

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

            IMAGING

            • General Features

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Gross Pathologic & Surgical Features

                      CLINICAL ISSUES

                      • Natural History & Prognosis

                        • Treatment

                          Selected References

                          1. Chong JX et al: Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 96(5):841-9, 2015
                          2. Bissinger RL et al: Nonlethal multiple pterygium syndrome: Escobar syndrome. Adv Neonatal Care. 14(1):24-9, 2014
                          3. 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
                          4. Robinson KG et al: Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 161A(12):3042-8, 2013
                          5. Barros FS et al: Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography. J Clin Imaging Sci. 2:65, 2012
                          6. Joo S et al: Prevalence and patterns of scoliosis in children with multiple pterygium syndrome. J Pediatr Orthop. 32(2):190-5, 2012
                          7. Vogt J et al: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 49(1):21-6, 2012
                          8. de Lima RL et al: Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med. 11(4):241-7, 2009
                          9. Houweling AC et al: Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. Clin Dysmorphol. 18(4):225-7, 2009
                          10. Bertelè G et al: A familial case of popliteal pterygium syndrome. Minerva Stomatol. 57(6):309-22, 2008
                          11. Bellamy SG et al: Physical therapy intervention for an adolescent with a knee flexion contracture and diagnosis of multiple pterygium syndrome. Pediatr Phys Ther. 19(2):140-7, 2007
                          12. Gundogan M et al: First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 21(5):466-70, 2006
                          13. Morgan NV et al: Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 79(2):390-5, 2006
                          14. Prontera P et al: Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? Am J Med Genet A. 140(20):2227-30, 2006
                          15. Chen M et al: Sonographic features of lethal multiple pterygium syndrome at 14 weeks. Prenat Diagn. 25(6):475-8, 2005
                          16. Dodson CC et al: Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report. HSS J. 1(1):35-9, 2005
                          17. Cox PM et al: Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatr Dev Pathol. 6(1):59-68, 2003
                          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

                                    • Definitions

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

                                    IMAGING

                                    • General Features

                                      • Imaging Recommendations

                                        DIFFERENTIAL DIAGNOSIS

                                          PATHOLOGY

                                          • General Features

                                            • Gross Pathologic & Surgical Features

                                              CLINICAL ISSUES

                                              • Natural History & Prognosis

                                                • Treatment

                                                  Selected References

                                                  1. Chong JX et al: Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 96(5):841-9, 2015
                                                  2. Bissinger RL et al: Nonlethal multiple pterygium syndrome: Escobar syndrome. Adv Neonatal Care. 14(1):24-9, 2014
                                                  3. 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
                                                  4. Robinson KG et al: Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 161A(12):3042-8, 2013
                                                  5. Barros FS et al: Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography. J Clin Imaging Sci. 2:65, 2012
                                                  6. Joo S et al: Prevalence and patterns of scoliosis in children with multiple pterygium syndrome. J Pediatr Orthop. 32(2):190-5, 2012
                                                  7. Vogt J et al: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 49(1):21-6, 2012
                                                  8. de Lima RL et al: Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med. 11(4):241-7, 2009
                                                  9. Houweling AC et al: Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. Clin Dysmorphol. 18(4):225-7, 2009
                                                  10. Bertelè G et al: A familial case of popliteal pterygium syndrome. Minerva Stomatol. 57(6):309-22, 2008
                                                  11. Bellamy SG et al: Physical therapy intervention for an adolescent with a knee flexion contracture and diagnosis of multiple pterygium syndrome. Pediatr Phys Ther. 19(2):140-7, 2007
                                                  12. Gundogan M et al: First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 21(5):466-70, 2006
                                                  13. Morgan NV et al: Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 79(2):390-5, 2006
                                                  14. Prontera P et al: Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? Am J Med Genet A. 140(20):2227-30, 2006
                                                  15. Chen M et al: Sonographic features of lethal multiple pterygium syndrome at 14 weeks. Prenat Diagn. 25(6):475-8, 2005
                                                  16. Dodson CC et al: Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report. HSS J. 1(1):35-9, 2005
                                                  17. Cox PM et al: Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatr Dev Pathol. 6(1):59-68, 2003