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Pena-Shokeir sesndromu: Bir olgu sunumu (Pena-Shokeir syndrome:a case report)

Year 2013, Volume: 1 Issue: 1, 1 - 3, 01.04.2013

Abstract

Pena-Shokeir Syndrome is a rare, autosomal recessive disorder. PSS is characterized by multible ankyloses, various facial anomalies, pulmonary hipoplasia, short umblical cord and polyhidramniosis. We report a patient who is 32 weeks of gestational age and has PSP compatible findings. The patient had facial anomalies, multible anklosis and pulmonary disease. The patient died in 3 month of her life due to pulmonary complications. We present this case, which is rare and has multible etiology, in order to a contribution to the literature.

References

  • 1. Brueton LA, Huson SM, Cox PM et al. Asymptomatic maternal myasthenia as a ca-use of the Pena-Shokeir phenotype. Am J Med Genet. 2000;92:1-6.
  • 2. Miller ME, Higginbottom M, Smith DW. Short umbilical cord: its origin and relevance. Pe-diatrics. 1981;67:618-621.
  • 3. Aksoy F, Büyükpınarbaşılı N, Somay A, Tüysüz B, Perk Y. Pena-Shokeir Fenotipi. Perinatoloji Dergisi. 2000;8:46-49.
  • 4. Boesen PV, French CE. Acute respiratory distress in Pena-Shokeir syndrome. Ear No-se Throat J. 2004;83:772-773.
  • 5. Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anoma-lies, and pulmonary hypoplasia: a lethal condition. J Pediatr. 1974;85:373-375.
  • 6. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72:857-863.
  • 7. Horrow MM, Rosenberg HK, Schneider AS, Greenberg CM, Zaeri N. US case of the day. Pena-Shokeir phenotype. Radiographics. 1995;15:726-729.
  • 8. Senocak EU, Oguz KK, Haliloglu G, Karcaaltincaba D, Akata D, Kandemir O. Prenatal diagnosis of Pena-Shokeir syndrome phe-notype by ultrasonography and MR imaging. Pediatr Radiol. 2009;39:377-380.
  • 9. Paladini D, Tartaglione A, Agangi A, Foglia S, Martinelli P, Nappi C. Pena-Shokeir phe-notype with variable onset in three consecu-tive pregnancies. Ultrasound Obstet Gyne-col. 2001;17:163-165.
  • 10. Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabe N. Neuropathological findings in the cerebrooculo-facio-skeletal (Pena-Shokeir II) syndrome. Brain Dev. 1997;19:58-62.

Karaaslan et al

Year 2013, Volume: 1 Issue: 1, 1 - 3, 01.04.2013

Abstract

Pena-Shokeir Sendromu (PSS) nadir görülen bir kalıtsal hastalıktır. PSS multipl ankiloz, fasial anomaliler, pulmoner hipoplazi, gelişme geriliği, kısa umblikal kord, polihidramnios ile karakterizedir. Yazımızda 32 haftalık ikiz eşi olarak doğan PSP’li bir hasta sunuldu. Olgumuzda yüz anomalileri, eklem bulguları ve akciğer sorunları vardı. Hasta yaşamının üçüncü ayında akciğer komplikasyonları ile kaybedildi. Bu olgu, PSS’nin nadir görülmesi ve etiyolojisinin tam olarak belli olmaması nedeniyle literatüre katkı amacıyla sunulmuştur

References

  • 1. Brueton LA, Huson SM, Cox PM et al. Asymptomatic maternal myasthenia as a ca-use of the Pena-Shokeir phenotype. Am J Med Genet. 2000;92:1-6.
  • 2. Miller ME, Higginbottom M, Smith DW. Short umbilical cord: its origin and relevance. Pe-diatrics. 1981;67:618-621.
  • 3. Aksoy F, Büyükpınarbaşılı N, Somay A, Tüysüz B, Perk Y. Pena-Shokeir Fenotipi. Perinatoloji Dergisi. 2000;8:46-49.
  • 4. Boesen PV, French CE. Acute respiratory distress in Pena-Shokeir syndrome. Ear No-se Throat J. 2004;83:772-773.
  • 5. Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anoma-lies, and pulmonary hypoplasia: a lethal condition. J Pediatr. 1974;85:373-375.
  • 6. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72:857-863.
  • 7. Horrow MM, Rosenberg HK, Schneider AS, Greenberg CM, Zaeri N. US case of the day. Pena-Shokeir phenotype. Radiographics. 1995;15:726-729.
  • 8. Senocak EU, Oguz KK, Haliloglu G, Karcaaltincaba D, Akata D, Kandemir O. Prenatal diagnosis of Pena-Shokeir syndrome phe-notype by ultrasonography and MR imaging. Pediatr Radiol. 2009;39:377-380.
  • 9. Paladini D, Tartaglione A, Agangi A, Foglia S, Martinelli P, Nappi C. Pena-Shokeir phe-notype with variable onset in three consecu-tive pregnancies. Ultrasound Obstet Gyne-col. 2001;17:163-165.
  • 10. Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabe N. Neuropathological findings in the cerebrooculo-facio-skeletal (Pena-Shokeir II) syndrome. Brain Dev. 1997;19:58-62.

Details

Primary Language English
Journal Section Case Reports
Authors

Erhan KARAASLAN

Resul YILMAZ

Samet ÖZER

Nafia KAZANCI

Haluk ESMERAY This is me

Publication Date April 1, 2013
Published in Issue Year 2013 Volume: 1 Issue: 1

Cite

Vancouver KARAASLAN E, YILMAZ R, ÖZER S, KAZANCI N, ESMERAY H. Pena-Shokeir sesndromu: Bir olgu sunumu (Pena-Shokeir syndrome:a case report). pediatr pract res. 2013;1(1):1-3.