Levent TÜTÜNCÜ, Murat MUHCU, Ercüment MÜNGEN, Yusuf Ziya YERGÖK

19. gebelik haftasında saptanan tek taraflı alt ekstremite anomalisi

19. gebelik haftasında ayrıntılı sonografik inceleme ile prenatal tanısı konulan ve ender görülen, tek taraflı proksimal fokal femur yetmezliği ve fibula yokluğu ile karekterize bir fetal anomali olgusu sunulmuştur.

Anahtar Kelimeler:

Alt ekstremite, Doğum öncesi tanı, Femur, Anomaliler

Unilateral lower limb anomaly at 19 weeks' gestation

We report the prenatal ultrasonographic diagnosis of a rare case of unilateral proximal focal femoral deficiency and fibula agenesis with clubfoot at 19 weeks gestation.

Keywords:

Lower Extremity, Prenatal Diagnosis, Femur, Abnormalities,

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1.Makhoul İR, Goldstein I, Smolkin T, Avrahami R, SujovP. Congenital limb deficiencies in newborn infants: prevalance, characteristics and prenatal diagnosis. Prenat Diagn 2003; 23: 198-200
2.McGuirk CK, Westgate MN, Holmes LB. Limb deficiencies in newborn infants. Pediatrics 2001; 108: 1-7
3.Sanpera I Jr, Sparks IT. Proximal femoral focal deficiency: does a radiologic classification exist ? J Pediatr Orthop 1994; 14: 34-38
4.Goncalves LF, De Luca GR, Vitorello DA, Parente LM, Philippi H, Saab Neto JA, Pereira ET. Prenatal diagnosis of bilateral proximal femoral hypoplasia
Ultrasound Obstet Gynecol 1996; 8: 127-130
5.Filly AL, Robnett-Filly B, Filly RA. Syndromes with focal femoral deficiency: Strengths and weaknesses of prenatal sonography J Ultrasound Med2004; 23: 1511-1516
6.Hadi HA, Wade A. Prenatal diagnosis of unilateral proximal femoral focal deficiency in diabetic pregnancy: a case report. Am J Perinatol 1993; 10:285-287
7.Camera G, Dodero D, Parodi M, Zucchinetti P, Camera A. Antenatal ultrasonographic diagnosis of a proximal femoral focal deficiency. J Clin Ultrasound 1993; 21: 475-479
8.Bronstein M, Deitsch M. Early diagnosis of proximal femoral deficiency. Gynecol Obstet Invest 1992; 34: 246-248
9.Aitken GT. Proximal femoral focal deficiency: definition, classification, and menagement. In:Aitken GT(ed). Proximal Femoral Focal Deficiency: A congenital abnormality. Washington DC: National Academy of Sciences; 1969: 1-22
10.Bohring A, Oppermann HC. A further case of vertical transmission of proximal femoral focal deficiency ? Am J Med Genet 1997; 71: 194-196
11.La Torre R, Mastrone M, Coacci F, Labi L, Palma E, Di Giusto M, Patella A, Cosmi EV
Severe hypoplasia of the right femur, ipsilateral agenesia of the fibula and twisted right foot in a 24-week-old fetus with proximal femoral focal deficiency (PFFD). Clin Exp Obstet Gynecol. 2003; 30: 65-6
12.American Institute of Ultrasound in Medicine
AIUM practice guideline for the performance of an antepartum obstetric ultrasound examination. J Ultrasound Med 2003; 22: 1116-1125.