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A Case Of Pena-Shokeir Syndrome

Yıl 2016, Cilt: 13 Sayı: 3, 135 - 136, 01.07.2016

Öz

Pena-Shokeir syndrome is characterised by fetal akinesia, intrauterine growth retardation, deformites of musculoskeletal system, facial anomalies, pulmonary hypoplasia, short umbilical cord and polyhydramnios. In this manuscript we reported a newborn case born at the 35th gestational weeks whose prenatal ultrasonography showed reduced fetal movements and multiple deformities of extremities. Physical examination showed multiple congenital anormalies congruent with features of Pena-Shokeir syndrome.

Kaynakça

  • Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. A lethal condition. J Pediatr 1974; 85: 373–5.
  • Herring JA. Orthopedics related syndromes. In: Tachdjian’s Pediatric Ort- hopedics. Herring JA (ed). 5’th edition. ELSEVER. 2013; 2 : P541-547.
  • Shivaprakash.N.C, Uday Shankar and Kedarnath.G.T. Pena-Shokeir Sy- ndrome: A Case Report. BMR Medicine 2014; 1: 1-4.
  • Santana EFM , Serni PNO, Rolo LC, and Jşnior EA. Prenatal Diagno- sis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography. J Clin Imaging Sci. 2014; 4: 20.
  • Şenocak EU, Oğuz KK, Haliloğlu G, Karcaaltıncaba A, Akata D and Kande- mir ö. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultra- sonography and MR imaging. Pediatr Radiol 2009; 39:377-380.
  • Jones KJ. Pena Shokier phenotype. In: Jones KJ (eds). Smith’s recogni- zable pattern of human malformations. 5th ed. Philadelphia: W. B. Saun- ders Co; 1999. 174–175.
  • Hall JG; Arthrogryposis multiplex congenita: etiology,genetics, classifi- cation, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997;6(3):159-66.
  • Çalık M, Çakmak A, Soran M, Ataş A. Farklı Anomalilerin Eşlik Ettiği Potter Sendromu: Vaka Sunumu Tıp Araştırmaları Dergisi: 2008: 6 :121 -124

Pena-Shokeir Sendromu

Yıl 2016, Cilt: 13 Sayı: 3, 135 - 136, 01.07.2016

Öz

Pena-Shokeir sendromu fetal akinezi, intrauterin gelişme geriliği, kas ve iskelet deformiteleri, fasiyal anomaliler, pulmoner hipoplazi, kısa umbilikal kord, polihidramniyos ile giden klinik bir fenotipdir. Bu makalede 35 haftalık doğan, prenatal ultrasonografisinde fetal hareketleri yavaş ve ekstremitelerinde deformite olan, postnatal muayenesinde multipl konjenital anomali tespit edilen Pena-Shokeir sendromu özellikleri gösteren bir vaka sunulmuştur.

Kaynakça

  • Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. A lethal condition. J Pediatr 1974; 85: 373–5.
  • Herring JA. Orthopedics related syndromes. In: Tachdjian’s Pediatric Ort- hopedics. Herring JA (ed). 5’th edition. ELSEVER. 2013; 2 : P541-547.
  • Shivaprakash.N.C, Uday Shankar and Kedarnath.G.T. Pena-Shokeir Sy- ndrome: A Case Report. BMR Medicine 2014; 1: 1-4.
  • Santana EFM , Serni PNO, Rolo LC, and Jşnior EA. Prenatal Diagno- sis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography. J Clin Imaging Sci. 2014; 4: 20.
  • Şenocak EU, Oğuz KK, Haliloğlu G, Karcaaltıncaba A, Akata D and Kande- mir ö. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultra- sonography and MR imaging. Pediatr Radiol 2009; 39:377-380.
  • Jones KJ. Pena Shokier phenotype. In: Jones KJ (eds). Smith’s recogni- zable pattern of human malformations. 5th ed. Philadelphia: W. B. Saun- ders Co; 1999. 174–175.
  • Hall JG; Arthrogryposis multiplex congenita: etiology,genetics, classifi- cation, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997;6(3):159-66.
  • Çalık M, Çakmak A, Soran M, Ataş A. Farklı Anomalilerin Eşlik Ettiği Potter Sendromu: Vaka Sunumu Tıp Araştırmaları Dergisi: 2008: 6 :121 -124
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Case Report
Yazarlar

Halit Halil

Evrim Alyamaç Dizdar Bu kişi benim

Turan Derme Bu kişi benim

Nurdan Uras Bu kişi benim

Şerife Suna Oğuz Bu kişi benim

Yayımlanma Tarihi 1 Temmuz 2016
Yayımlandığı Sayı Yıl 2016 Cilt: 13 Sayı: 3

Kaynak Göster

Vancouver Halil H, Alyamaç Dizdar E, Derme T, Uras N, Oğuz ŞS. Pena-Shokeir Sendromu. JGON. 2016;13(3):135-6.