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Multiple Pterygium Syndrome

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Atlas of Genetic Diagnosis and Counseling

Abstract

Multiple pterygium syndrome is a distinct syndrome consisting of a constellation of congenital anomalies characterized by pterygia of the neck, antecubital, popliteal and intercrural areas, numerous flexion contractures of the joints, growth retardation, ptosis, antimongoloid slant with or without epicanthal folds, cleft palate, scoliosis, vertebral anomalies, rocker bottom deformity of the feet, and genital anomalies.

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References

  1. Angle B, Hersh JH, Yen F, et al.: XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype. Am J Med Genet 68:7–11, 1997.

    Article  CAS  PubMed  Google Scholar 

  2. Aslan Y, Erduran E, Kutlu N: Autosomal recessive multiple pterygium syndrome: a new variant? Am J Med Genet 93:194–197, 2000.

    Article  CAS  PubMed  Google Scholar 

  3. Chen H, Chang CH, Misra RP, et al.: Multiple pterygium syndrome. Am J Med Genet 7:91–102, 1980.

    Article  CAS  PubMed  Google Scholar 

  4. Di Gennaro GL, Greggi T, Parisini P: Scoliosis in Escobar syndrome (multiple pterygium syndrome). Description of two cases. Chir Organi Mov 81:317–323, 1996.

    PubMed  Google Scholar 

  5. Escobar V, Bixler D, Gleiser S, et al.: Multiple pterygium syndrome. Am J Dis Child 132:609–611, 1978.

    CAS  PubMed  Google Scholar 

  6. Fryns JP, Vandenberghe K, Moerman P, et al.: Cystic hygroma and multiple pterygium syndrome. Ann Genet 27:252–253, 1984.

    CAS  PubMed  Google Scholar 

  7. Fryns JP, Volcke P, van den Berghe H: Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood. Eur J Pediatr 147:550–552, 1988.

    Article  CAS  PubMed  Google Scholar 

  8. Gillin ME, Pryse-Davis J: Pterygium syndrome. J Med Genet 13:249–251, 1976.

    CAS  PubMed  Google Scholar 

  9. Goh A, Lim KW, Rajalingam V: Multiple pterygium syndrome (Escobar syndrome)—a case report. Singapore Med J 35:208–210, 1994.

    CAS  PubMed  Google Scholar 

  10. Hall JG, Reed SD, Rosenbaum KN, et al.: Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet 12:377–409, 1982.

    Article  CAS  PubMed  Google Scholar 

  11. Holtmann M, Woermann FG, Boenigk HE: Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures “a syndrome” Neuropediatrics 32:264–266, 2001.

    Article  CAS  PubMed  Google Scholar 

  12. Kok JG, Gabreels FJ, Renier WO, et al.: Multiple pterygium syndrome. A report of two unrelated cases. Clin Neurol Neurosurg 86:101–105, 1984.

    Article  CAS  PubMed  Google Scholar 

  13. Kuzma PJ, Calkins MD, Kline MD, et al.: The anesthetic management of patients with multiple pterygium syndrome. Anesth Analg 83:430–432, 1996.

    Article  CAS  PubMed  Google Scholar 

  14. Lembet A, Oktem M, Yilmaz Z, et al.: Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome. Prenat Diagn 23:728–730, 2003.

    Article  PubMed  Google Scholar 

  15. Liu DC, Tsai FJ, Chen HW, et al.: Multiple pterygium syndrome: report of one case. Acta Paediatr Taiwan 40:192–194, 1999.

    PubMed  Google Scholar 

  16. MacArthur CJ, Pereira S: Otolaryngologic manifestations of multiple pterygium syndrome. Int J Pediatr Otorhinolaryngol 34:135–140, 1996.

    Article  CAS  PubMed  Google Scholar 

  17. Madhuri V, Bose A, Danda S, et al.: Chromosomes 6/7 translocation t(6:7)(q15;32) presenting as multiple pterygium syndrome. Indian Pediatr 38:194–197, 2001.

    CAS  PubMed  Google Scholar 

  18. McCall RE, Budden J: Treatment of multiple pterygium syndrome. Orthopedics 15:1417–1422, 1992.

    CAS  PubMed  Google Scholar 

  19. McKeown CM, Harris R: An autosomal dominant multiple pterygium syndrome. J Med Genet 25:96–103, 1988.

    Article  CAS  PubMed  Google Scholar 

  20. Naguib KK, Teebi AS, Al-Awadi SA, et al.: Multiple pterygium syndrome in five Arab sibs. Ann Genet 30:122–125, 1987.

    CAS  PubMed  Google Scholar 

  21. Ohkubo M, Ino T, Shimazaki S, et al.: Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. Pediatr Cardiol 17:53–56, 1996.

    CAS  PubMed  Google Scholar 

  22. Ozkinay FF, Ozkinay C, Akin H, et al.: Multiple pterygium syndrome. Indian J Pediatr 64:113–116, 1997.

    CAS  PubMed  Google Scholar 

  23. Papadia F, Longo N, Serlenga L, et al.: Progressive form of multiple pterygium syndrome in association with nemalin-myopathy: report of a female followed for twelve years. Am J Med Genet 26:73–83, 1987.

    Article  CAS  PubMed  Google Scholar 

  24. Penchaszadeh VB, Salszberg B: Multiple pterygium syndrome. J Med Genet 18:451–455, 1981.

    CAS  PubMed  Google Scholar 

  25. Ramer JC, Ladda RL, Demuth WW: Multiple pterygium syndrome. An overview. Am J Dis Child 142:794–798, 1988.

    CAS  PubMed  Google Scholar 

  26. Robinson LK, O’Brien NC, Puckett MC, et al.: Multiple pterygium syndrome: a case complicated by malignant hyperthermia. Clin Genet 32:5–9, 1987.

    Article  CAS  PubMed  Google Scholar 

  27. Stoll C, Levy JM, Kehr P, et al.: Familial pterygium syndrome. Clin Genet 18:317–320, 1980.

    Article  CAS  PubMed  Google Scholar 

  28. Teebi AS: Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. Am J Med Genet 101:78–79, 2001.

    Article  CAS  PubMed  Google Scholar 

  29. Teebi AS, Daoud AS: Multiple pterygium syndrome: a relatively common disorder among Arabs. J Med Genet 27:791, 1990.

    CAS  PubMed  Google Scholar 

  30. Thompson EM, Donnai D, Baraitser M, et al.: Multiple pterygium syndrome: evolution of the phenotype. J Med Genet 24:733–749, 1987.

    CAS  PubMed  Google Scholar 

  31. Wee AS, Bock HG, Bobo H: Multiple pterygium syndrome: neuromuscular findings in a case. J Miss State Med Assoc 31:327–330, 1990.

    CAS  PubMed  Google Scholar 

  32. Willems PJ, Colpaert C, Vaerenbergh M, et al.: Multiple pterygium syndrome with body asymmetry. Am J Med Genet 47:106–111, 1993.

    Article  CAS  PubMed  Google Scholar 

  33. Zeitune M, Fejgin MD, Abramowicz J, et al.: Prenatal diagnosis of the pterygium syndrome. Prenat Diagn 8:145–149, 1988.

    Article  CAS  PubMed  Google Scholar 

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© 2006 Humana Press Inc.

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(2006). Multiple Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_134

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_134

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

  • eBook Packages: MedicineMedicine (R0)

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