Sporadik İzole Fokomeli

Yıl 2014, Cilt: 24 Sayı: 1 , 28 - 30 , 01.01.2014

Çetin Aydın Yakup Yalçın Serenat Eriş Halime Şen Selim Selda Uysal

https://izlik.org/JA77FJ53WH

Öz

Konjenital ekstremite anomalilerinin intrauterin dönemde ultrasonografi ile erken tespiti gerekli danışmanlığın verilebilmesi açısın- dan önemlidir. Bu makalede sporadik fokomeli olduğu düşünülen postmortem muayene sonuçlarıyla da bu tanı ile uyumlu olduğu görülen bir olgunun sunulması amaçlanmıştır. 20 yaşında, primigravid, kendisinin ve eşinin soygeçmişinde bilinen konjenital ano- mali öyküsü saptanmayan olgunun 22. gebelik haftasındaki obstetrik ultrasonografisinde fetal ekstremite anomalileri izlendi. Tanıyı doğrulayan postmortem radyolojik ve genetik incelemeler yapıldı. Eşlik eden ek malformasyon saptanmadı. Düşük materyalinden yapılan kromozom analizinde herhangi bir sayısal veya gross yapısal kromozom anomalisi gözlenmedi. Patolojik ultrasonografik ve sitogenetik bulgular ile tanı konulan iskelet anomalilerinin postnatal olarak da doğrulanması ailelere verilecek genetik danışma ve olası diğer gebelikler için uygun izlem olanakları sağlayacaktır

Anahtar Kelimeler

Fokomeli , prenatal tanı , ultrasonografi

Isolated sporadic phocomelia

https://izlik.org/JA77FJ53WH

Öz

Early detection of congenital limb anomalies by ultrasonography prenatally is important to give the necessary counseling. The aim of this article is to present a case which is considered to be sporadic phocomelia seems to be compatible with the results of postmortem examination. 20 years-old, primigravid woman without of known family history of congenital anomalies was evaluated. Fetal limb anomalies were observed in ultrasound examination at 22 weeks of gestation. Radiological and genetic studies to validate the diagno- sis were made postmortem. Any additional malformation was found. Any numerical or gross structural chromosomal abnormalities were observed. Confirming the skeletal abnormalities diagnosed by ultrasonography and cytogenetic findings also postnatally provi- de opportunities for genetic counseling to families and appropriate follow-up for other prospective pregnancies

Anahtar Kelimeler

Phocomelia , prenatal diagnosis , ultrasound

Kaynakça

• Bod M, Czeizel A, Lenz W. Incidence at birth of different types of limb reduction abnormalities in Hungary 1975-1977. Hum Genet 1983;65:27-33.
• Goldberg MD. The dysmorphic Child: An Orthopedic Perspecti- ve. New York, Raven Press, 1987.
• Stoll C, Dott B, Roth MP, Alembik Y. Birth prevalence rates of ske- letal dysplasias. Clin Genet 1989;35:88-92.
• Song SY, Chi JG. Tri-amelia and phocomelia with multiple malfor- mations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? Clin Genet 1996; 50:502-4.
• Robins DB, Ladda RL, Thieme GA, et al. Prenatal detection of Ro- berts-SC phocomelia syndrome: report of 2 sibs with characteris- tic manifestations. Am J Med Genet 1989;32:390-4.
• Niemann S, Zhao C, Pascu F, et al. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 2004;74:558-63.
• Sekine K, Ohuchi H, Fujiwara M, et al. Fgf10 is essential for limb and lung formation. Nat Genet 1999;21:138-41.
• Kamimura K, Fujise M, Villa F, et al. Drosophila heparan sulfate 6-O-sulfotransferase (dHS6ST) gene. Structure, expression, and function in the formation of the tracheal system. J Biol Chem 2001;276:17014-21.
• Nogami K, Suzuki H, Habuchi H, et al. Distinctive expression pat- terns of heparan sulfate O-sulfotransferases and regional differen- ces in heparan sulfate structure in chick limb buds. J Biol Chem 2004;279:8219-29.
• Matthews SJ, McCoy C. Thalidomide: a review of approved and investigational uses. Clin Ther 2003;25:342-95.
• Miller MT, Ventura L, Stromland K. Thalidomide and misopros- tol: Ophthalmologic manifestations and associations both ex- pected and unexpected. Birth Defects Res A Clin Mol Teratol 2009;85:667-76.
• Zhou J, Kochhar DM. Cellular anomalies underlying retinoid-in- duced phocomelia. Reprod Toxicol 2004;19:103-10.
• van Zalen-Sprock RM, Brons JT, van Vugt JM, van der Harten HJ, van Geijn HP. Ultrasonographic and radiologic visualization of the developing embryonic skeleton. Ultrasound Obstet Gynecol 1997;9:392-7.
• Olney RS, Hoyme HE, Roche F, et al. Limb/pelvis hypoplasia/ap- lasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet 2001;103:295-301.
• Whitlow BJ, Chatzipapas IK, Lazanakis ML, Kadir RA, Economi- des DL. The value of sonography in early pregnancy for the detec- tion of fetal abnormalities in an unselected population. Br J Obstet Gynaecol 1999;106:929-36.
• Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 2009;11:127-33.
• Zimmer EZ, Taub E, Sova Y, et al. Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Pediatr 1985;144:412-4.