Knee in Congenital Short Femur

Leg Deformity and Length Discrepancy

“…It is important to remember that the abnormality is not confined to the femur. The knee is nearly always to some extent unstable and there may be congenital absence of both cruciates [21,22]. The lower leg is nearly always to some degree short, and there may be absence or hypoplasia of the fibula.…”

Prenatal Ultrasonographic Diagnosis of Proximal Focal Femoral Deficiency

“…The unilateral form is approximately 85-90% of all cases and although a few familial cases have been described but mostly it is sporadic and its genetic transmission mode is unknown [3]. It is important to examine the face carefully because the disorder may be bilateral femoral hypoplasia and unusual facies syndrome in cases where both the femora are affected [4] which consists of bilateral femoral hypoplasia and facial anomalies including short nose with broad tip, long philtrum, microganthia and cleft palate. Long bone abnormalities can extend to other segments of the upper and lower extremities like absent fibula which was seen in our case.…”

A Case of Congenital Familial Short Femur Diagnosed Prenatally

“…The most commonly associated anomalies are hypoplasia or absence of other long bones: the 'femur-fibula' or 'femur-fibula-ulna' complexes [1]. Other anomalies include the intercalary hemimelias, tibial camptomelia, phocomelia of another limb, spinal dysraphism, absence of crucial ligaments, abnormalities of the knees, and microcephaly [6,7].…”