Management of congenital femoral deficiency

Abnormalities that affect the developing human limb range from subtle differences that are of no functional or cosmetic consequence, to complete absence of all limbs.Advances in non-invasive imaging have improved antenatal detection of these conditions and has broadened the options available to prospective parents.This paper considers congenital femoral deficiency and includes an overview of limb bud development and the mechanisms involved in normal growth.The use of ultrasound in antenatal screening and the clinical and radiological features in childhood will be discussed in addition to management including surgical reconstruction and prosthetic use.This should be one component of a multidisciplinary approach to provide the parents of an affected child with balanced information on functional prognosis, management choices and implications for future pregnancies.