Zeynep İlerisoy YAKUT, Ali İPEK, Hatice AKKAYA

Fibular hemimelili olgunun prenatal sonografik teşhisi

Fibular Hemimeli, fibulanın doğuştan parsiyel ya da total yokluğu olup, en sık görülen alt ekstremite eksiklik anomalisidir. Anomalinin prenatal ultrason tanısı aileyi doğum sonrası yapılacak cerrahiyi de içerebilen tedavi seçeneklerine hazırlamak ve ailenin doğum sonrası süreçle ilgili bilinçlendirilmesi açısından önemlidir. Olgunun prenatal sonografik tanısına ait literatürde çok yayın yoktur. Literaturde antenatal tanı konmuş olgular Tip 2 hemimeli (fibulanın total yokluğu) şeklinde olup ultrasonla tanınması kısmen daha kolay vakalardır. Biz bu sunumumuzda tek taraflı parsiyel fibular hemimeli, ekinovalgus, metatars yokluğu olan 24 haftalık fetusun sonografik bulgularını literatür eşliğinde tartışmayı amaçladık.

Prenatal sonographic diagnosis of a case with fibular hemimelia

Fibular hemimelia is "the congenital partial or total absence of the fibula and it is the most frequent lower limb deficiency anomalies. Prenatal sonographic diagnosis of this anomaly is important to prepare the patient for surgery and to raise awareness of the family for the therapeutic approach after birth. There are few published cases of its prenatal diagnosis. All these cases were in type 2 group with total absence of fibula which were relatively easy to diagnose by antenatal ultrasound. In this case we aim to discuss the ultrasoud findings of a fetus with partial deficiency of the fibula associated foot equinovalgus, and absence of the fourth and fifth foot rays and metatars diagnosed at 24 weeks gestation by literature.

PDF

___

1. Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med 2006;25:533-7A.
2. Lewin SO, Opitz JM. Fibular a/hypoplasia: review and documentation of the fibular developmental field, American Journal of Medical Genetics Supplement 1986;2:21538.
3. Sepulveda W, Weiner E, Bridger JE, Fisk NM. Prenatal diagnosis of congenital absence of the fibula. J Ultrasound Med 1994;13:6557.
4. Uffelman J, Woo R, Richards DS. Prenatal diagnosis of bilateral fibular hemimelia. J Ultrasound Med 2000;19:3414.
5. Abel DE, Hertzberg BS, James AH. Antenatal sonographic diagnosis of isolated bilateral fibular hemimelia. J Ultrasound Med 2002;21:8115.
6. Bronshtein M, Keret D, Deutsch M, Liberson A, Bar ChavaI. Transvaginal sonographic detection of skeletal anomalies in the first and early second trimesters. Prenat Diagn 1993;13:597601.
7. Calzolari E, Manservigi D, Garani GP, Cocchi G, Magnani C, Milan M. Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. Journal of Medical Genetics 1990;27:3535.
8. Meckel C. Quoted by Haudek, MAX: IJe-ber oonuge-nuitalen. Defect der Fibula unuol oless-nu Verinalten zur sogenannten intrauterinen Fractur der Tibia. Ze-itschr. f. Orthop Chir 1896;4:326-401.
9. Berenter R, Morris J, Yee B. Bilateral congenital absence of the fibula. J Am Podiatr Med Assoc1990;80:325-8.
10. Stevans PM, Arms D. Postaxial hypoplasia of lower extremity. J Pediatr Orthop 2000;20:166-72.
11. Coventry MB, Johnson EW, Jr., Congenital absence of the fibula. J Bone Joint Surg Oct 1952;34-A:941-56.
12. Achterman C, Kalamchi A. Congenital deficiency of the fibula, The Journal of Bone and Joint Surgery. British 1979;61:133-7.