Konjenital kısa femur: Olgu sunumu

Yıl 2018, , 162 - 163, 01.05.2018

Pervin Karlı

https://doi.org/10.28982/josam.398242

Öz

Konjenital kısa femur çok nadir görülen bir durumdur ve ultrasonografinin kullanılması sonrası antenatal olarak teşhis edilmesi oldukça kolaylaşmıştır.Genellikle kromozomal anomaliler eşlik etmez. Bizim vaka takdimimiz ultrasonografik tarama yaparken heriki ekstremite uzunluklarının ölçülmesinin hatta bütün ekstremite uzunluklarının ayrı ayrı ölçülmesinin önemini vurgulamaktadır.

Anahtar Kelimeler

Konjenital kısa femur, Proximal fokal femoral deficit, Antenatal tarama

Congenital short femur: A case report

Öz

Congenital short femur (CSF) is a very rare condition and after the ultrasonography has been actively used, the placement of the antenatal diagnosis is actually quite facilitated. It is usually not accompanied by chromosomal abnormalities. Our case presentation has shown the importance of both femur lengths and all other extremity images while performing antenatal scanning.

Anahtar Kelimeler

Congenital short femur, Proximal focal femoral deficiency, Antenatal diagnosis

Kaynakça

• 1. Camera G, Dodero D, Parodi M, Zucchinetti P. Antenatal ultrasonographic diagnosis of a proximal femoral focal deficiency. Journal of Clinical Ultrasound. 1993;21(7):475–9.
• 2. Bevan-Thomas WH, Millar EA. A review of proximal focal femoral deficiencies. Journal of Bone and Joint Surgery A. 1967;49(7):1376–88.
• 3. Armstrong R, McCann E, Fryer A, Bricker L, Platt MJ. A review of prenatally detected femoral abnormalities. Clinical Dysmorphology. 2009;18(3):127–30.
• 4. Parilla BV, Leeth EA, Kambich MP, Chilis P, MacGregor SN. Antenatal detection of skeletal dysplasias. Journal of Ultrasound in Medicine. 2003;22(3):255–8.
• 5. Jeanty P, Kleinman G. Proximal femoral focal deficiency. J Ultrasound Med. 1989;8:639–42.
• 6. Aitken GT. Proximal femoral focal deficiency: Definition, classification and management; in Aitken GT (ed): Proximal Femoral Deficiency: A Congenital Anomaly. Washington, National Academy of Sciences, 1969, p 1–22.
• 7. Hadi HA, Wade A. Prenatal diagnosis of unilateral proximal femoral focal deficiency in diabetic pregnancy: A case report. Am J Perinatol. 1993;10:285–87.
• 8. Doğer E, Köpük Ş, ÇakJroğlu Y, Çakır Ö, Yücesoy G. Unilateral Isolated Proximal Femoral Focal Deficiency. Case Rep Obstet Gynecol. 2013;2013:637904.
• 9. Gonc alves LF, De Lucca GR, Vitorello DA, et al. Prenatal diagnosis of bilateral proximal femoral hypoplasia. Ultrasound in Obstetrics and Gynecology. 1996;8(2):127–30.
• 10. Jeanty P, Kleinman G. Proximal femoral focal deficiency. Journal of Ultrasound in Medicine. 1989;8(11):639–42.
• 11. Hadi A, Wade HA. Prenatal diagnosis of unilateral proximal femoral focal deficiency in diabetic pregnancy: a case report. American Journal of Perinatology. 1993;10(4):285–7.
• 12. Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N. Pictorial review: Imaging features of lower limb malformations above the foot. Diagnostic and Interventional Imaging. 2015;96901:914.
• 13. Alanay Y, Krakow D, Rimoin DL, Lachman RS. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988–2006), American Journal of Medical Genetics. 2007;143(11):1159–68.