Hüsnü GÖKARSLAN, Alper ŞİŞMANOĞLU, Zehra N. KAVAK, Zühal SAYLAK, Yavuz Tahsin AYANOĞLU

Sirenomelia: A case of severe caudal regression syndrome

Nadir olarak görülen;birleşik alt ekstremiteler, fibula yokluğu, bilateral renal agenezi ve geniş tek umbilikal arter ile karakterize ağır kaudal regresyon sendromu tanımlanmıştır. Yaşam şansı çok nadir olup yalnız bilateral renal agenezi yokluğunda mümkündür. Utrasonografi ile erken tanının ve ardından daha az travmatik terminas-yonun önemi tartışılmıştır.

Anahtar Kelimeler:

Doğum öncesi tanı, Ektromeli

Sirenomelia: Ağır kaudal regresyon sendromlu bir olgu

A rare case of severe caudal regression syndrome including fused lower limbs, absence of fibula, anal atresia, bilateral renal agenesis, and a single large umbilical artery is described. Survival is extremely rare in such cases and only possible in the absence of bilateral renal agenesis.The importance of early diagnosis by ultrasonography and subsequently less travmatic termination are discussed.

Keywords:

Prenatal Diagnosis, Ectromelia,

PDF

___

1. Fleischer AC,Manning FAJeanty P, RomeroR.Sonography in Obstetrics and Gynecology: Principles and practice; 1996(Fifth edition) :Appleton&Lange; Stamford, Connecticut: Fetal Sceletal Anomalies: 478-92.5
2. Valenzano M,Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E. Sirenomelia: Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod Update 1999;5(1): 82-6
3. Stevenson RE, Jones KL, Phelan MC at al. Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics, 78(3): 1986 Sep: 451-7
4. Lynch SA, Wright C; Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in infant born to a diabetic mother. Clin Dysmorphol, 1997; 6(1):75-80 5. Twickler D, Budorick N, Pretorius D, Grafe M, Currarino G. Caudal regression versus sirenomelia: sonographic clues; J Ultrasound Med 1993;12(69): 323-30 6. Sirtori M, Ghidini A, Romero R, Hobbins JC. Prenatal Diagnosis of Sirenomelia; J Ultrasound Med, 8(2): 1989; 83-8 7. Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E. Sirenomelia. Pathological features, antenatal ultrasonographic clues and review of current embryogenic theories. Hum Reprod Update 1999;5(1): 82-6 8. Sancı M, Güler A, Meydan E, Dicle N, Başoğlu N, Sipahi Ç. Sirenomelia İki Olgunun Sunumu; Klinik Bilimler ve Doktor, Kasım 2001, Cilt 7, Sayı 6, 854-856 9. Lutz N, Meyrat BJ, Guignard JP, Hohlfeld J. Mermaid syndrome: virtually no hope for survival. Pediatr Surg Int. 2004;19:330-4 10. Kulkarni ML, Abdul ManafKM, Prasannakumar DG, Kulkarni PM: Sirenomelia with radial displasia, Indian J Pediatr. 2004;71 (5):447-9