Congenital short femur: A  case report

Pervin Karlı

doi:10.28982/josam.398242

Authors

Pervin Karlı https://orcid.org/0000-0003-4907-5890

DOI:

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

Keywords:

Congenital short femur, Proximal focal femoral deficiency, Antenatal diagnosis

Abstract

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.

Downloads

Download data is not yet available.

References

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.

Bevan-Thomas WH, Millar EA. A review of proximal focal femoral deficiencies. Journal of Bone and Joint Surgery A. 1967;49(7):1376–88.

Armstrong R, McCann E, Fryer A, Bricker L, Platt MJ. A review of prenatally detected femoral abnormalities. Clinical Dysmorphology. 2009;18(3):127–30.

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.

Jeanty P, Kleinman G. Proximal femoral focal deficiency. J Ultrasound Med. 1989;8:639–42.

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.

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.

Doğer E, Köpük Ş, ÇakJroğlu Y, Çakır Ö, Yücesoy G. Unilateral Isolated Proximal Femoral Focal Deficiency. Case Rep Obstet Gynecol. 2013;2013:637904.

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.

Jeanty P, Kleinman G. Proximal femoral focal deficiency. Journal of Ultrasound in Medicine. 1989;8(11):639–42.

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.

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.

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.