Congenital absence of the anterior cruciate ligament (ACL), first reported by Giorgi in 1956 is an extremely rare condition. The prevalence of this condition is reported to be around 0.017/1,000 live births. This congenital anomaly can present in isolation or be associated with other skeletal malformations, including fibular hemimelia, congenital femoral deficiencies, and hip dysplasia. Congenital ACL deficiency may often go undiagnosed in early life. Others will eventually experience symptoms due to the long-term effects of knee instability that can lead to chronic knee pain, particularly in the medial knee and patellofemoral compartments, and may predispose individuals to early-onset osteoarthritis. As the condition is extremely rare and can occur with or without associated deformities, there is no single treatment of choice for the condition. We herein report a case of bilateral isolated congenital absence of ACL in a 24-year-old young woman who presented to us with the chief complaints of pain in the right knee for the past 2 years and the left knee for the past 10 months. Although good outcomes with conservative management in individuals without symptomatic instability have been reported, surgeons advocate ACL reconstruction in cases presenting with symptomatic instability.

The objective of this study was to analyze the treatment of recurrent valgus knee in fibular hemimelia patients with hemiepiphysiodesis and define associated variables for deformity relapse. Sixteen consecutive patients with fibular hemimelia treated with hemiepiphysiodesis (57 physis) were compared to 21 physis of idiopathic cases, in terms of magnitude, speed, and time of correction. Correction of valgus deformity was successfully achieved in all cases. In the fibular hemimelia group, children 4 years and younger had a bigger magnitude of correction than older ones (11° versus 6.9°) and greater speed (1° versus 0.6°), with statistical significance ( P  = 0.018 and P  = 0.009, respectively), while time for correction was similar among these groups (11.6 months versus 12.3 months). Femoral distal physis corrected faster than proximal tibial physis (10.8 months versus 16.8 months), with statistical significance ( P  = 0.032). Thirty-three physis (57.9%) were isolated and 24 (42.1%) were tibia and femur. We found no statistical difference between the two groups regarding time for correction, magnitude, or speed ( P  = 0.526, P  = 0.910, P  = 0.803, respectively). Relapse was observed in 49 physis (86%) of the fibular hemimelia patients. These had a mean age of 5.5 years versus 3.9 years for those without a relapse, with statistical significance ( P  = 0.204). Relapse occurred after 2 years of the first procedure. Recurrent valgus deformity in fibular hemimelia can be successfully treated with single or multiple hemiepiphysiodesis with tension band plates in skeletally immature patients in an effective and gradual manner. Level of Evidence: Level III, therapeutic study.

Introduction Foot oligodactyly is usually associated with fibular insufficiency or cleft foot syndrome. A foot with a reduced number of rays may occasionally have an isolated dysplasia. Methods We reviewed the clinical notes and X-rays of six children with oligodactyly, having a normal development of the tibia and fibula. Clinical evaluation recorded the plantigrade or deviated foot, appropriate shoe wear, and aesthetic presentation of barefoot children. Radiological examination revealed missing or hypoplastic bones in the foot, the presence of other deformities, and leg length discrepancy (LLD) of the affected limb. Results On clinical evaluation, all children except one had a plantigrade foot with normal shoe wear; the lesion was not spotted in three of them unless informed of the presence of the dysplasia. Radiological examination in four of them revealed the absence or hypoplasia of the navicular, with a normal shape of the first metatarsal. Calcaneocuboid joints were normal in five of them; LLD was the main problem in three children. The girl with bilateral oligodactyly presented as a normal child. Conclusion Oligodactyly may present as an isolated dysplasia. LLD in these patients, which is less severe than in children with fibular or tibial insufficiency, is the main issue that requires surgical management in later life. Prenatal diagnosis of oligodactyly as an isolated dysplasia is an important feature for appropriate counseling of parents.

Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia. It is a rare disorder that might be isolated or associated with visceral anomalies.

Proximal focal femoral deficiency (PFFD) is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows. In addition, treatment procedures applied to the child affect the radiographic presentation of the disease in adulthood. Almost all cases of PFFD reported to date are in young children and in the current literature, there is a paucity of radiographic images of PFFD in mature skeleton. The aim of this case report is to present the radiographic appearance of PFFD in an adult patient and to increase awareness among radiologists about this disease.