Fibrous dysplasia of bone is a skeletal dysplasia with a propensity to affect the femur in its polyostotic form, leading to deformity, fracture, and pain. The proximal femur is most commonly involved with a tendency to distal progression, thereby producing the typical shepherd’s crook deformity. However, there are few data on the spectrum and progression of femoral deformities in polyostotic fibrous dysplasia. The purposes of this study were (1) to develop a radiographic classification for polyostotic fibrous dysplasia; (2) to test this classification’s intra- and interobserver reliability; and (3) to characterize the radiographic progression of polyostotic fibrous dysplasia in a population of patients with the condition who were treated with a variety of approaches at several centers. We retrospectively reviewed radiographs of 127 femurs from 84 adult patients affected by polyostotic fibrous dysplasia. Fifty-nine femurs had undergone one or more operations. The radiographs were evaluated in the coronal plane for neck-shaft angle and angular deformities along the whole femoral shaft down to the distal epiphysis. Four observers evaluated each film two times at intervals; intra- and interobserver reliability testing was performed using the kappa statistic. Eighty-nine femurs (70%) were available for followup to evaluate for progression at a mean of 10 years (range, 6–20 years). Six reproducible patterns of deformity were identified in both untreated and operated femurs: type 1 (24%), normal neck-shaft angle with altered shape of the proximal femur; type 2 (6%), isolated coxa valga with neck-shaft angle > 140°; type 3 (7%), isolated coxa vara with neck-shaft angle < 120°; type 4 (20%), lateral bowing of the proximal half of the femur associated with normal neck-shaft angle; type 5 (14%), like in type 4 but associated with coxa valga; and type 6 (29%), like in type 4 but associated with coxa vara. Interobserver and intraoberver kappa values were excellent, ranging from 0.83 to 0.87. In 46 of the 89 femurs (52%) for which longitudinal radiographic documentation was available, there was progressive worsening of the original deformity, although the pattern remained the same; types 1 and 2 tended not to progress, whereas types 3 to 6 did. A reproducible radiographic classification of polyostotic fibrous dysplasia-associated femoral deformities is proposed, which can serve as a tool for assessing and treating these deformities. After reviewing the radiographs of 127 femurs, we identified six reproducible patterns of femoral deformities. Level III, diagnostic study. See Guidelines for Authors for a complete description of levels of evidence.

Purpose: To investigate whether atrophy of the leg muscles present in congenital clubfoot (CCF) is primitive or secondary to treatment of the deformity. Methods: Magnetic resonance imaging (MRI) of both legs was taken in three cohorts of patients with unilateral congenital clubfoot (UCCF): eight untreated newborns (age range 10 days to 2 weeks); eight children who had been treated with the Ponseti method (age range 2–4 years); eight adults whose deformity had been corrected by manipulation and casting according to Ponseti, followed by a limited posterior release performed at age 2–3 months (age range 19–23 years). All of the treated patients wore a brace until 3 years of age. Muscles were measured on transverse MRI scans of both legs taken midway between the articular surface of the knee and the articular surface of the ankle, using a computer program (AutoCAD 2002 LT). The same program was used to measure leg muscles in the histologic cross sections of the legs of two fetuses with UCCF, spontaneously aborted at 13 and 19 weeks of gestation, respectively. Measurements of the whole cross section of the leg (total leg volume: TLV), of the muscular tissue (muscular tissue volume: MTV), and of the adipose tissue (adipose tissue volume: ATV) of the tibia, fibula, and of the other soft tissues (tendons, nerves, and vessels) were taken by using an interactive image analyzer (IAS 2000, Delta System, Milan, Italy). Results: Marked atrophy of the leg muscles on the clubfoot side was found in both fetuses and untreated newborns, with a percentage ratio of MTV between the normal and the affected leg of 1.3 and 1.5, respectively. Leg muscle atrophy increased with growth, and the percentage ratio of MTV between the normal and the affected leg was, respectively, 1.8 and 2 in treated children and adults. On the other hand, fatty tissue tended to increase relatively from birth to adulthood, but it could not compensate for the progressive muscular atrophy. As a result, the difference in TLV tended to increase from childhood to adulthood. Conclusions: Our study shows that leg muscular atrophy is a primitive pathological component of CCF which is already present in the early stages of fetal CCF development and in newborns before starting treatment. Muscular atrophy increases with the patient's age, suggesting a mechanism of muscle growth impairment as a possible pathogenic factor of CCF.

This study examines the long-term results of 22 patients treated between 1938 and 1974 either surgically or by observation. Fourteen patients (16 scapulas) were treated by observation, seven patients (seven scapulas) were treated surgically by various methods, and one bilateral case was treated conservatively on one side and surgically on the other. The average follow-up was 26 years (range, 10-55) and the average age at follow-up was 32 years (range, 18-67). Shoulder abduction and cosmesis did not change appreciably over the years for the patients that did not undergo surgery, but the surgical patients did demonstrate an average improvement in shoulder abduction of 38 degrees. Seven of eight patients treated surgically reported a subjective improvement in the cosmetic appearance at follow-up, although four patients had an unsightly surgical scar. Pain in the affected shoulder was uncommon at follow-up in either group. We feel that the final result should be assessed from the viewpoint of the functional outcome and cosmetic appearance, independent of the radiographic aspect. Surgical treatment for patients with Sprengel's deformity is indicated when patient and family expectations are either improved cosmesis or improved function

In congenital clubfoot, residual deformities are not well-documented and they may change depending on different treatments. To identify the treatment that provides better outcome at maturity, we studied the computed tomography of two cohorts of patients affected with congenital clubfoot who were treated using two distinct protocols. Forty-seven clubfeet were treated according to the traditional protocol of our hospital and 61 were treated according to the Ponseti technique. The normal feet of the unilateral deformities served as controls. All patients were followed to skeletal maturity. The ankle torsion angle and the declination angle of the neck of the talus were higher than normal but different only in patients treated with the traditional method. The calcaneocuboid angle was lower but only in patients treated with the Ponseti method. The shape of the talar joints was altered in many feet regardless of protocol. The CT images suggest the modifications of the torsion angle of the ankle, the declination angle of the neck of the talus, and the calcaneocuboid angle at maturity are related to the treatment protocol followed. The Ponseti manipulative technique provided better anatomical results in comparison to our traditional technique.

Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review Ernesto Ippolito, Giulio Gorgolini

During the last 35 years, the medial approach has been reported more frequently than the anterior approach for open reduction of developmental dislocation of the hip (DDH), however, few studies have followed children treated by medial open reduction to adulthood. The purposes of our study were: (1) to assess the development of 71 completely dislocated hips after medial open reduction, the incidence of additional surgery and avascular necrosis during the followup period, and the long-term radiographic and functional results; and (2) to compare our results with those obtained by others who performed open reduction either by the medial or anterior approach. We retrospectively evaluated, after the end of growth, 71 hips in 52 patients who underwent open reduction by the medial approach. The mean age of the patients was 16 months (range, 3–36 months). After surgery, the hips were immobilized in 100° flexion, 60° abduction, and neutral rotation for an average of 6 months. All patients had staged clinical and radiographic followups until skeletal maturity. The length of followup averaged 22 years (range, 13–32 years). In all the surgically treated hips, the acetabular index normalized by the end of growth, the incidence of avascular necrosis was 18%, and additional surgery was required in 15% of our cases. At the last followup, 93% of the hips were classified as Severin Classes I or II and 7% as Class III; 76% of the hips had an excellent result, 17% had a good result, and 7% had a fair result according to the McKay scale as modified by Barrett and colleagues. Open reduction of DDH through a medial approach provided good long-term radiographic and functional results in patients 3 to 36 months old and it was the only surgery performed in 85% of our cases. Future comparative studies are needed to confirm our results, especially in older children. Level IV, therapeutic study.