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.
Anahtar Kelimeler
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
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.
Anahtar Kelimeler
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
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Temmuz 2016 |
| Yayımlandığı Sayı | Yıl 2016 Cilt: 13 Sayı: 3 |