Coronal plane alignment of the lower limbs in patients with unilateral developmental hip dislocation.

PURPOSE: We aimed to identify the coronal plane alignment of lower limbs in patients with unilateral developmental hip dislocation (UDHD) and observe the difference between Hartofilakidis type II and III. PATIENTS AND METHODS: The radiographic data of 76 patients who met the inclusion criteria were retrospectively reviewed, including the hip-knee-ankle angle (HKA), mechanical lateral distal femoral angle (mLDFA), anatomical lateral distal femoral angle (aLDFA), mechanical proximal tibial angle (MPTA), and lateral distal tibial angle (LDTA). RESULTS: The valgus alignment on ipsilateral side was most frequently seen in both Hartofilakidis type II (51.3%) and type III groups (67.6%), whereas for the contralateral side, the neutral alignment in type II group (69.2%) and varus alignment in type III group (51.4%) were most commonly observed. Both the mLDFA and aLDFA of the ipsilateral side were significantly smaller than the contralateral side. CONCLUSIONS: UDHD patients may present with lower limb malalignment on both sides. The ipsilateral valgus alignment is the most common deformity. On the contralateral side, Hartofilakidis type III patients may be more prone to be varus than type II patients. The lower limb malalignment and deformity of the ipsilateral distal femur should be considered during surgery involving hip, knee, or femur.

Defining Features of the Upper Extremity in Holt-Oram Syndrome.

PURPOSE: To investigate the distinguishing morphological characteristics of children with radial longitudinal deficiency (RLD) in Holt-Oram syndrome (HOS). METHODS: One hundred fourteen involved extremities in 62 patients with a diagnosis of HOS were identified at 3 institutions. Medical records and radiographs were evaluated. Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when possible. Other unusual or distinguishing characteristics were catalogued. RESULTS: There was bilateral involvement in 84% of patients. The forearm was involved in 81% of the extremities and a shortened distal radius (Bayne and Klug type I RLD) was the most commonly identified forearm anomaly (40%). Radioulnar synostosis was present in 15% of the extremities, all in the proximal forearms with reduced radial heads. Thumb aplasia (Blauth type V hypoplastic thumb) was the most common type of classifiable thumb abnormality and occurred in 35% of involved thumbs. Twenty-seven percent of abnormal thumbs affected were not classifiable according to the Blauth classification, and 19% of involved thumbs (hypoplastic or absent) had first-web syndactyly. CONCLUSIONS: The upper extremity in HOS differs from the typical presentation of RLD. The forearm is more often involved and may demonstrate radioulnar synostosis. The thumb is frequently unclassifiable by the Blauth classification and has first-web syndactyly. The presence of radioulnar synostosis and syndactyly of the radial 2 digits in RLD should prompt the hand surgeon to obtain a cardiac evaluation and consider genetic testing for HOS. TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic III.

Congenital tibial deficiency: a 37-year experience at 1 institution.

BACKGROUND: The purpose of this study is to evaluate all cases of tibial deficiency seen at a single institution from 1975 to 2012, to classify these cases by the Jones classification if possible, to evaluate for associated anomalies, and to review the surgical treatments provided to these patients. METHODS: Ninety-five patients (125 extremities) treated at our institution between 1975 and 2012 with tibial deficiency had complete records allowing for classification and review of full treatment course. These patients' records and imaging were retrospectively reviewed for any associated anomalies, surgical treatment performed, and limb deformity characterized by the Jones classification where possible. RESULTS: Seventy-three of 125 limbs (58%) were classified as Jones type 1A, 6 (5%) as type 1B, 18 (14%) as type 2, and 12 (10%) as type 4. Two limbs initially classified radiographically as type 3 deformities subsequently developed a proximal tibia epiphyses and thus did not represent true type 3 deformities. Fourteen limbs (11%) were characterized by global tibial deficiency but with proximal and distal epiphyses and could not be classified according to the Jones classification. Seventy-five of the 95 patients (79%) had associated anomalies. Other lower extremity anomalies were most frequent; however, upper extremity, spine, and visceral anomalies were also noted. CONCLUSIONS: True type 3 deformity as described by Jones was not seen in our patient population; all patients developed a proximal epiphysis. Therefore, this group may be better served by limb salvage than amputation. Fourteen (11%) limbs, characterized by global tibia shortening relative to the fibula of variable degree, could not be classified according to the Jones classification. We propose adding this group as a new group within the Jones classification, which we call type 5. Finally, in this patient population, the Brown procedure for type 1 tibial deficiency universally failed, confirming results of prior studies. LEVEL OF EVIDENCE: This is a level IV study, a retrospective review of 95 patients with tibial deficiency from a single institution.

Congenital fibular deficiency.

Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

Limb Lengthening and Reconstruction Society AIM index reliably assesses lower limb deformity.

BACKGROUND: Although several systems exist for classifying specific limb deformities, there currently are no validated rating scales for evaluating the complexity of general lower limb deformities. Accurate assessment of the complexity of a limb deformity is essential for successful treatment. A committee of the Limb Lengthening and Reconstruction Society (LLRS) therefore developed the LLRS AIM Index to quantify the severity of a broad range of lower extremity deformities in seven domains. QUESTIONS/PURPOSES: We addressed two questions: (1) Does the LLRS AIM Index show construct validity by correlating with rankings of case complexity? (2) Does the LLRS AIM Index show sufficient interrater and intrarater reliabilities? METHODS: We had eight surgeons evaluate 10 fictionalized patients with various lower limb deformities. First, they ranked the cases from simplest to most complex, and then they rated the cases using the LLRS AIM Index. Two or more weeks later, they rated the cases again. We assessed reliability using the Kendall's W test. RESULTS: Raters were consistent in their rankings of case complexity (W = 0.33). Patient rankings also correlated with both sets of LLRS AIM ratings (r(2) = 0.25; r(2) = 0.23). The LLRS AIM Index showed interrater reliability with an intraclass correlation (ICC) of 0.97 for Trial 1 and 0.98 for Trial 2 and intrarater reliability with an ICC of 0.94. The LLRS AIM Index ratings also were highly consistent between the attending surgeons and surgeons-in-training (ICC = 0.91). CONCLUSIONS: Our preliminarily observations suggest that the LLRS AIM Index reliably classifies the complexity of lower limb deformities in and between observers.

The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies.

Human lower limb congenital long bone deficiencies cluster primarily at three distinct skeletal locations. Proximal femoral and fibular reductions are known phenomena. In contrast, midline metatarsal deficiencies have been misrepresented as lateral. The popular term, "fibular hemimelia," is inaccurate and its use is discouraged. All three locations correspond to discrete sites of evolving angiogenesis during transition from a single embryonic axial limb artery to the familiar and complex adult arterial pattern. Initiation of bone formation of cartilaginous primordia of the long bones at all three sites occurs in proximity to, and depends upon, successful invasion by mature nutrient vessels, formed during the 6th and 7th weeks of embryonic development. The adult arterial pattern is fully established by 8th embryonic week. Arterial transitions occur later in development, around the time of cessation of the molecular processes of patterning/specification of the embryonic limb. Evidence of flawed embryonic arterial transitions, involving missing, reduced and/or retained primitive vessels in association with congenital skeletal reductions have been demonstrated at all three sites. Current molecular models of limb development do not explain the distribution of this triad of congenital skeletal reductions. These dysmorphologies are most accurately described as post-specification errors of limb development. Recognition of this distinctive model of limb maldevelopment demands further investigation to create a more exact taxonomy, one consistent with both clinical and molecular criteria. The established terminologies originated by Frantz and O'Rahilly should be reconsidered or abandoned. Designation of this clinical triad as a syndrome of proximal femur, fibula, and midline metatarsal dystrophisms initiates that endeavor.

A new classification for idiopathic genu vara.

PURPOSE: Past classification for the treatment of idiopathic genu vara depended simply on the measurement of distance between the knees, without attention to the rotational profile of the lower extremity. We retrospectively analyzed anatomical causes of idiopathic genu vara. PATIENTS AND METHODS: Twenty eight patients with idiopathic genu vara were included in this study. All patients were surgically treated. To evaluate the angular deformity, a standing orthoroentgenogram was taken and the lateral distal femoral angle and the medial proximal tibial angle were measured. In order to assess any accompanying torsional deformity, both femoral anteversion and tibial external rotation were measured using computerized tomographic scans. A derotational osteotomy was performed at the femur or tibia to correct rotational deformity, and a correctional osteotomy was performed at the tibia to correct angular deformity. RESULTS: Satisfactory functional results were obtained in all cases. Genu vara was divided into 3 groups according to the nature of the deformity; group 1 (6 patients) with increased femoral anteversion, group 2 (10 patients) with proximal tibial varus deformity alone, and group 3 (12 patients) with proximal tibial varus deformity accompanied by increased external tibial rotation. CONCLUSION: The success seen in our cases highlights the importance of an accurate preoperative analysis that accounts for both rotational and angular deformities that may underlie idiopathic genu vara.

Major lower limb congenital shortening: a mini review.

Major congenital limb deficiencies are rare and the experience of most orthopaedic surgeons of their management will be small. The suggestion of the establishment of special limb deficiency clinics seems a sensible way of collecting the necessary expertise together in one place in order to advise patient and parents on the long-term management, throughout life, of their problems. Advances in imaging have led to prenatal diagnosis, which produces very significant problems in counselling parents before their child is born. More sophisticated methods of imaging after birth such as magnetic resonance imaging allow more accurate assessment of the deficiency. Early classifications based on plain radiology in the first year of life are being superseded by classifications relevant to the modern methods of reconstruction particularly the circular (Ilizarov) fixator. Similarly the remarkable advances in molecular biology are increasing our understanding of the fundamental causes of these deficiencies and the ultimate aim of their prevention. The rapid advances in reconstruction particularly using circular fixators has made reconstruction rather than amputation and a prosthesis possible, particularly in the milder forms of deficiency. However, the surgeon must remember that these conditions represent a field defect so that reconstruction cannot produce a normal limb. One of the hardest things to explain to patients and parents is that however well reconstruction is performed the result is not a normal limb. In the more severe forms of deficiency frequently the best advice is still amputation and a modern prosthesis. For some patients and parents this is very difficult if not impossible to accept. However, life with a good amputation and modern prosthesis may be better than attempting a long and arduous reconstruction, which still results in an abnormal and imperfect limb.

Congenital tibial deficiencies: treatment using the Ilizarov's external fixator.

INTRODUCTION: Congenital longitudinal deficiency of the tibia is a rare and often syndromic anomaly. Amputation is usually the preferred treatment option in complete absence of the tibia; however, a conservative management might be implemented in partial forms or in case of amputation refusal. Our experience with the Ilizarov fixator, convinced us this device was the best suited for progressive correction of lower limbs length discrepancies and articular or bone angular limb deformities (ALD). The aim of this study is to highlight the interest of the Ilizarov fixator in the multistage conservative treatment of congenital tibial deficiencies. MATERIAL AND METHODS: A retrospective study was conducted in nine patients suffering from Type I or II congenital tibial deficiencies (Jones) and sequentially managed using the Ilizarov technique. The functional outcome after treatment completion was then clinically assessed. RESULTS: The different stages of correction were recorded for each individual patient. Patients were assessed at a mean follow-up of 18,3 years (4-32 years). The mean maximum knee flexion was 35 degrees (0 degrees -90 degrees ) in type I deficiencies and 118 degrees (90 degrees -140 degrees ) in type II deficiencies. One patient underwent amputation and a bilateral knee arthrodesis was performed in another case. DISCUSSION: Few series in the literature report a comparable length of follow-up period in the conservative management of severe congenital tibial deficiencies. In our study, the Ilizarov fixator provided satisfactory progressive corrections of severe congenital tibial deficiencies. LEVEL OF EVIDENCE: Level IV therapeutic retrospective study.

[Malformations of the lower extremities]. / Defektmissbildungen an den unteren Extremitäten.

Malformations with deficiencies of the lower extremities are rare. They are usually caused by toxic influences during pregnancy between the 4th and the 12th week of gestation. Some malformations have a genetic origin. The total incidence of congenital deficiencies of the lower extremities is approximately 18 in 100,000 newborns. The most common deficiencies are fibular hemimelias, followed by congenital femoral deficiencies and tibial hemimelias. Hemimelias are often associated with deficient toes or ray defects. Congenital pseudarthrosis of the tibia is less common, but this diagnosis is underestimated in epidemiological studies in neonates, because the fracture usually only occurs at walking age. Other deficiencies such as bladder exstrophy with pelvic defects, split feet and defects in association with hereditary skeletal dysplasias (Apert syndrome, constriction band syndrome) are extremely rare. Various treatment options are available, including shoe elevation, orthotic or prosthetic devices, realignment osteotomy, arthrodesis, rotationplasty, amputation and surgical leg lengthening. Complex deformities should be treated by a team of specialists such as orthopedic surgeons, orthotists, physiotherapists, psychologists and possibly other surgeons too.

Trastornos tróficos y ecografía Doppler / Trophic alterations and Doppler ultrasound

Se muestran algunos casos de pacientes con trastornos tróficos en los miembros inferiores con distinto grado de afectación, y los estudios complementarios mediante ecografía Doppler, que permitieron evaluar la circulación periférica. Se clasifican estos trastornos por causa, y se describen patologías diabéticas, arteriales, venosas y linfáticas.