Sirenomelia Sekansi ve Penis Malpozisyonu

Öz

Sirenomelia alt ekstremitelerin yapışıklığı ile seyreden, vücudun kaudal bölgesinin nadir bir anomalisidir. Çoğu olguda genitouriner, gastrointestinal, nöral tüp ve vertebra anomalileri bulunur. Bu yazıda, sirenomelia sekansı gösteren çok nadir bir olgu sunulmuştur. Hasta yapışık alt ekstremiteye, genital organ yokluğuna, anal orifis yokluğuna, pelvik ve sakral displaziye ve tek umbilikal artere sahipti. İlaveten posteriyor sakral bölgede malpozisyonlu penisi vardı. Hasta doğumundan 11 saat sonra öldü.

Anahtar Kelimeler

• Penis malpozisyonu, Oligohidroamnios, Sirenomeli

Sirenomelia Sequence and Malposition of the Penis

Öz

Sirenomelia is a rare anomaly of the caudal region of the body, presenting with fusion of the lower limbs. Genitourinary, gastrointestinal, neural tube and vertebral anomalies are found in most cases. Herein, a very rare case with the sirenomelia sequence is presented. The patient had fusion of both lower limbs, absent genitalia, absent anal orifice, absent ureteral orifice, pelvic and sacral dysplasia and a single umbilical artery. In addition, he had a malpositioned penis in the posterior sacral area. He died 11 hours after birth

Anahtar Kelimeler

• Malposition of the penis, Oligohydramnios, Sirenomelia

Kaynakça

1. Kallen b, Castilla EE, Lancaster PA, Mutchinick O, Knudsen Lb, Martinez-Frias ML, et al. The cyclops and the mermaid: An epidemiological study of two types of rare malformation. J Med Genet 1992;29:30-5.
2. Taori Kb, Mitra K, Ghonga NP, Gandhi RO, Mammen T, Sahu J. Sirenomelia sequence (mermaid): Report of three cases. Indian J Radiol Imaging 2002;12:399-401.
3. Jones KL. Sirenomelia sequence. In:Smith’s Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: Elsevier Saunders, 2006:728-9.
4. Akbayır O, Gungorduk K, Sudolmuş S, Gulkılık A, Ark C. First trimester diagnosis of sirenomelia: A case report and review of the literature. Arch Gynecol Obstet 2008;278:589-92.
5. Clemente CM, Farina M, Ciancı A, Iracı Sareri M. Sirenomelia with oligodactylia: Early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. Fetal Diagn Ther 2010;8:43-5.
6. Contu R, Zoppi MA, Axiana C, Ibba RM, Monni G. First trimester diagnosis of sirenomelia by 2D and 3D ultrasound. Fetal Diagn Ther 2009;26:41-4.
7. Assımakopoulos E, Athanasiadis A, Zafrakas M, Dragoumıs K, bontis J. Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. Clin Exp Obstet Gynecol 2004;31:151-3.
8. Kadian YS, Duhan N, Rattan KN, Rawal M. Sirenomelia (mermaid syndrome): A rare anomaly. Afr J Paediatr Surg 2008;5:105-6.

9. Tanha FD, Googol N, Kaveh M. Sirenomelia (mermaid syndrome) in an infant of a diabetic mother. Acta Medica Iranica 2003;41:69-72.
10. Stevenson RE, Jones KL, Phelan MC, Jones MC, barr M Jr, Clericuzio C, et al. Vascular steal: The pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics 1986;78:451-7.
11. Currarino G, Weinberg A. From small pelvic outlet syndrome to sirenomelia. Pediatr Pathol 1991;11:195-210.
12. bakhtar O, benirschke K, Masliah E. Sirenomelia of an intracyto- plasmic sperm injection conceptus: A case report and review of mechanism. Pediatr Dev Pathol 2006;9:245-53.
13. Stockers JT, Heifetz SA. Sirenomelia: A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 1987;10:7-50.
14. Stevenson RE, Jones KL, Phelan MC, Jones MC, barr M Jr, Clericuzio C, et al. Vascular steal: The pathogenic mechanism producing sirenomelia and associated defects of viscera and soft tissues. Pediatrics 1986;78:451-7.
15. 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;5:82-6.
16. Guven MA, Uzel M, Ceylaner S, Coskun A, Ceylaner G, Gungoren A. A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail. Genet Couns 2008;19:419-24.
17. Van Keirsbilck J, Cannie M, Robrechts C, de Ravel T, Dymarkowskı S, Van den bosch T, et al. First trimester diagnosis of sirenomelia. Prenat Diagn 2006;26:684-8.
18. Ono T, Katsura D, Tsujı S, Yomo H, Ishiko A, Inoue T, et al. Prenatal diagnosis of sirenomelia in the late second trimester with three- dimensional helical computed tomography. Tohoku J Exp Med 2011;225:85-7.
19. Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three- dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol 2004;24: 134-40.