AMNİOTİK BAND SENDROMU

Yıl 2014, Cilt: 1 Sayı: 3, 8 - 17, 16.12.2014

Öner Aynıoğlu Hatice Işık Ahmet Sahbaz

Öz

ÖZET

AmniotikBand Sendromu(ABS) kliniği tek bir konstriksiyon halkasından son derece ciddi malformasyonlara  kadar değişebilen, kromozom analizi normal, etiyolojisi ve patogenezi net bir şekilde anlaşılamamış bir sendromdur. ABS amniondan yoksun plesenta ya da  amniotik zar kalıntılarının fetusa yapışması ile oluşan fetal deformasyon, malfarmasyon veya ekstiremite ampütasyonları ile karakterize olabilecek bir sendromdur. ABS prevalansı 1/1200-1/1500 canlı doğum şeklindedir. Neonatal ABS’nin tanısı çoğu zaman zor olup vakaların %30-50’sinin tanısı doğru olarak konulabilir. Özellikle ekstremitelerle ilgili fetal anomalilerde, kromozom çalışması normal ise amniotik band sendromu akılda tutulmalıdır.

Anahtar Kelimeler: Amniotik Band Sendromu, ekstremite anomalileri, gebelik

ABSTRACT

Amniotic Band Syndrome(ABS) is a syndrome with normal chromosome analysis and not well understood etiology and pathogenesis  and the clinics of it varies from a single constriction ring to severe malformations. ABS is a syndrome which can be characterized with fetal deformation, malformation or amputasion of extremeties due to adhesion of plasenta devoid of amnion or amniotic membrane remnants. The prevelance of ABS is 1/1200-1500 of live births.The diagnosis of neonatal ABS is generally difficult, so only 30-50% of cases take  the true diagnosis. In the case of especially fetal extremity anomalies with normal chromosome analysis ABS should be in mind.

Key Words: Amniotic Band Syndrome, extremity anomalies, pregnancy

Anahtar Kelimeler

Amniotik Band Sendromu, ekstremite anomalileri, gebelik

Kaynakça

• KAYNAKLAR
• Api M, Görgen H, Fıçıcıoğlu C, Yorgancı C. Amniotikband sendromu: Bir olgu sunumu. Perinatoloji dergisi 1:231-235,1993
• İvit H, KöksalA, ÇukurovaK, Keklik A. Amniotikband sendromu: Bir olgu sunumu. TKlin J GynecolObst 2003,13:399-400
• Bozdağ Z, Şahin N. Amniyotikbandsendromu: Olgu sunumu. J Turgut Ozal Med Cent 2013:20(1):86-88
• Üstyol L,TemelH, PekerE, DoğanM, AktarF, TaşkınGA, Çaksen H. Amniotikband sendromu olgusu. Yeni tıp dergisi 2011;28:50-52
• Keswani SG, Johnson MP, Adzick NS, Hori S, Howell LJ, Wilson RD,et al. Inuterolimbsalvage: fetoscopicrelease of amnioticbandsforthreatenedlimbamputation. J Pediatr Surg 2003;38: 848-51.
• Lubinsky M, Sujansky E, Sanger W, Salyards P, Severn C. Familial amniotic bands. Am J Med Genet. 1983;14:81–7.
• DeLozier-Blanchet CD, Sohrabi-Zadeh N, Cox JN, Maye D, Engel E. Amniotic band malformations. Schweiz Rundsch Med Prax. 1985;74:358–62.
• Higginbottom MC, Jones KL, Hall BD, Smith DW. The amniotic band disruption complex - Timing of amniotic rupture and variable spectra of consequent defects. J Pediatr. 1979;95:544-549.
• Chen HE, Chen CP, Hsu CY, Wang W. Typical body wall defect associated with craniofacial anomalies and amniotic bands diagnosed in early pregnancy. Taiwan J Obstet Gynecol. 2007;46:286–7
• - Nardozza LM, Araujo Júnior E, Caetano AC, Moron AF. Prenatal diagnosis of amniotic band syndrome in the third trimester of pregnancy using 3D ultrasound. J Clin Imaging Sci. 2012;2:22. doi: 10.4103/2156-7514.95436. Epub 2012 Apr 28.
• Streeter GL. Focal deficiencies in fetal tissues and their relation to intrauterine amputations. Contrib Embryol Carnegie Inst 1930; 22:1-44
• Torpin R: Amniochorionicmesoblasticfibrousstringsandamnioticbands: Associatedconstrictingfetalmalformationsorfetaldeath. Am J ObstetGynecol, 1965, 91:65-75
• Van Allen MI, Curry C, Gallager L. Limb body wall complex: I, pathogenesis. Am J Med Genet 1987a; 28:529-548.
• Lockwood C, Ghidini A, Romero R, Hobbins JC. Am- niotic band syndrome: re-evaluation of its pathogen- esis. Am J Obstet Gynecol 1989; 160:1030-1033.
• American Journal of Medical Genetics 2004; 125A:12-1
• Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Va- lencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002; 32:285-289.
• McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Aus- ems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. Hay-Wells syn- drome is caused by heterozygous missense muta- tions in the SAM domain of p63. Hum Mol Genet 2001; 10:221-229
• Castilla EE, Lopez-Camelo JS, Campaña H. The al- titude as a risk factor for congenital anomalies. Am J Med Genet 1999; 86:9-14.
• Liascovich R, Castilla EE, Rittler M. Consanguinity in South America: Demographic aspects. Hum Hered- ity 2001; 51:27-34.
• Martinez-Frias ML. Epidemiological characteristics of amniotic band sequence (ABS) and body wall com- plex (BWC): are they two different entities? Am J Med Genet 1997; 73:176-179.
• Goldbaum G, Daling J, Milham S. Risk factors for gastroschisis. Teratology 1990; 42:397-403.
• Birth Defects Res A Clin Mol Teratol. 2009 January; 85(1): 52-57. doi:10.1002/bdra.20524.
• Kino Y. Clinical and experimental studies of the con- genital constriction band syndrome, with emphasis on its etiology. J Bone Joint Surg 1975; 57A:636-643.
• Kennedy LA, Persaud TVN. Pathogenesis of devel- opmental defects induced in the rat by amniotic sac puncture. Acta Anatomica 1977; 97:23-35.
• Winer et al. Am J Obstet Gynecol 2008;198:393.e1- 393.e5.
• Pedersen TK, Thomsen SG.Spontaneous resolution of amniotic bands. Ultrasound Obstet Gynecol. 2001 Dec;18(6):673-4.
• Peiró JL, Carreras E, Soldado F, Sanchez-Duran MA, Aguirre M, Barber I, Martinez-IbañezV. Fetoscopic release of umbilical cordamniotic band in a human fetus. Ultrasound Obstet Gynecol. 2009 Feb;33(2):232-4. doi: 10.1002/uog.6289.
• Richter J, Wergeland H, DeKoninck P, De Catte L, DeprestJA. Fetoscopic release of an amnioticband with risk of amputation: case report and review of the literature. FetalDiagnTher. 2012;31(2):134-7.
• Quintero RA, Morales WJ, Phillips J: Inuterolysis of amniotic bands. Ultrasound Obstet Gynecol 10:316-320, 1997
• Sentilhes L, Verspyck E, Eurin D, Ickowicz V, Patrier S, Lechevallier J, Marpeau L. Favourable outcome of a tight constriction band secondary toamniotic band syndrome. PrenatDiagn2004; 24: 198–201. 31. Ronderos-Dumit D, Brice ˜ no F, Navarro H, Sanchez N. Endoscopicrelease of limb consriction rings in utero.FetalDiagnTher2006; 21: 255–258