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Isolated clubfoot diagnosed prenatally: is karyotyping indicated?

OBJECTIVE: To evaluate the appropriateness of fetal karyotyping after prenatal sonographic diagnosis of isolated unilateral or bilateral clubfoot. METHODS: We retrospectively reviewed a database of fetal abnormalities diagnosed by ultrasound at a single tertiary referral center from July 1994 to March 1999 for cases of unilateral or bilateral clubfoot. Fetuses who had additional anomalies diagnosed prenatally, after targeted sonographic fetal anatomy surveys, were excluded. Outcome results included fetal karyotype diagnosed by amniocentesis, or newborn physical examination by a pediatrician. RESULTS: During the 5-year period, 5,731 fetal abnormalities were diagnosed from more than 27,000 targeted prenatal ultrasound examinations. There were 51 cases of isolated clubfoot. The mean maternal age at diagnosis was 30.5 years. The mean gestational age at diagnosis was 21.6 weeks. Twenty-three of the women (45%) were at increased risk of fetal aneuploidy, on the basis of advanced maternal age or abnormal maternal serum screening. Six women (12%) had positive family histories of clubfoot; however, no cases of aneuploidy were found by fetal karyotype evaluation or newborn physical examination. All cases of clubfoot diagnosed prenatally were confirmed at newborn physical examination, and no additional malformations were detected. CONCLUSION: After prenatal diagnosis of isolated unilateral or bilateral clubfoot, there appeared to be no indication to offer karyotyping, provided that a detailed sonographic fetal anatomy survey was normal and there were no additional indications for invasive prenatal diagnoses.

Adult↗

Sonographic classification of idiopathic clubfoot according to severity.

Our purpose was to develop a sonographic technique for clubfoot examination using measured angles to establish a classification system according to severity. Ultrasonography of 24 newborns with 32 clubfeet and 13 newborns with 22 normal feet was performed and measurements obtained. Analysis of components of variance was conducted. Patients with clubfeet showed higher dispersion in 95% confidence intervals for all angles than did patients with normal feet. A sonographic classification system was established: IIa, slight clubfoot; IIb, moderate clubfoot; IIc, severe clubfoot; IId, very severe clubfoot. Sonographic findings can be used to objectively assess various degrees of clubfoot severity.

Clubfoot↗

Tarsal shape, size, and articulating surface morphology in adolescent surgically treated clubfoot and their contralateral normal foot.

Despite the inability of radiographic measurements to quantify the 3-dimensional (3D) shape and size of the hindfoot bones affected by the clubfoot pathology, radiographs continue to be used to evaluate treatment efficacy. Advancements in imaging and image analysis allow new quantitative insights to be obtained into bone shape and size. Therefore, this study sought to quantify and compare the 3D size, shape, and articulating surface morphology of the tibia, talus, calcaneus, navicular, and cuboid bones in the adolescent surgically treated unilateral clubfoot and the contralateral normal foot. Anatomic measurements were obtained by geometrically modeling 3D reconstructed magnetic resonance images of the hindfoot tarsals in the feet of 7 adolescents (mean age, 13.0+/-2.8 years). The results showed that the tarsal bones in the surgically treated clubfoot were smaller in volume (20%-36%) and smaller in surface area (16%-28%) than those in the contralateral normal foot. Correspondingly, the size and shape of the articulating surfaces of these bones in the surgically treated clubfoot were also smaller and flatter than those in the contralateral normal foot. Specifically, the mean talar articular surface area was 25% to 40% smaller, the mean talar-tibiotalar articular surface length was 26% smaller, the mean tibiotalar articular surface length difference was 78% smaller, and the mean navicular "flattening index" was 86% larger in the surgically treated clubfoot. These data offer an objective standard that will advance the knowledge of the clubfoot pathology and aid treatment efficacy evaluation.

Adolescent↗

The effect of the internet in the treatment of congenital idiopathic clubfoot.

Parents have traditionally relied on health care professionals for advice and treatment for most orthopaedic conditions, including clubfoot. However, the unprecedented access to health care information offered by the Internet is changing how parents gather information and make treatment choices. This study was designed to evaluate the effect of the Internet in the treatment of clubfoot. We performed a retrospective review of the clinical census, statistics of the Virtual Hospital web pages on clubfoot, web sites, and web based support-groups related to clubfoot from 1995 to 2002. There were 157 patients that came to our clinic for treatment, a dramatic increase compared to previous years. There were a total of 790,084 hits to the Virtual Hospital web pages, with information requested from all states and 72 countries. Interestingly, the referrals also changed with patients coming from 30 states and 8 different countries, compared to previous years when the majority came from our own state. In addition, 75% of the patients were self-referred, many of them while on treatment at outside institutions. There were 160 web sites providing information on clubfoot and 5 large support groups. There were approximately 30,000 messages (average 1000 messages/month) posted into the support clubfoot websites. After visiting Internet support groups, 125 parents transferred or initiated the care of their children to a doctor practicing the Ponseti method. In conclusion, the Internet provides a mean for parents to obtain disease-specific information in a timely manner. Parents used the support-groups to find and proffer information, share experiences and opinions, and provide encouragement. This sharing of information is affecting how parents make their treatment choices and also has the potential to induce unexpected changes in clinical orthopaedic practice.

Clubfoot↗

[Motor function in children with clubfoot. A descriptive, controlled study].

The purpose was to assess the motor function and morphological conditions in children with clubfoot compared with children without this deformity. Functional tests, structured interviews and clinical examinations were used. Seven boys with clubfoot treated in neonatally at Herlev Hospital in 1987/88 and fourteen matched children without deformity were included. Balance and plasticity in the ankle joints were reduced as compared with expected age-related level of motor function and to the control group. After physical activity pain in the legs was more frequently reported by the clubfoot children. Muscular dysplasia was seen in all clubfoot legs. Passive movements in affected ankle joints were reduced in plantar flexion, dorsal flexion and eversion. The differences were statistically significant. The conclusion was that motor function in clubfoot children is developed to a lower level than in children without clubfoot.

Child↗

Evaluation of the utility of the Ponseti method of correction of clubfoot deformity in a developing nation.

Clubfoot is the commonest congenital deformity in babies. More than 100,000 babies are born worldwide each year with congenital clubfoot. Around 80% of the cases occur in developing nations. We treated 154 feet [mean Pirani score (total) 5.57] in 96 children (78 males, 18 females) by the Ponseti method from January 2003 to December 2005. A prospective follow-up for a mean duration of 19.5 months (range 6-32 months) was undertaken. After six months of treatment the Pirani score was reduced to zero for all patients. The results show that corrective surgery, sometimes multiple, can be avoided in most cases which are usually associated with the development of a stiff, painful foot. Low socio-economic status and illiteracy prevailing in developing nations increases the prevalence of neglected clubfoot that is still harder to correct. Integration into various programs and proper use of available resources can decrease neglected clubfoot and improve chances of successful and timely correction of deformity. Bracing constitutes an important part of treatment and proper motivation and education of the parents mitigates the chances of losing correction. The Ponseti method of correcting clubfoot is especially important in developing countries, where operative facilities are not available in the remote areas and well-trained physicians and personnel can manage the cases effectively with cast treatment only.

Braces↗

Assessment of the three-dimensional relationship of the ossific nuclei and cartilaginous anlagen in congenital clubfoot by 3-D MRI.

PURPOSE: Radiographic measurement is the usual method used to objectively determine the extent of a congenital clubfoot deformity. Although radiographs have been used clinically to estimate the size and location of tarsal bones through measurements of the ossific nuclei, it is not clear to what extent these relationships are actually reflected in these measurements. So, we used a 3-D MRI system that could more objectively estimate sizes and positional relationships. MATERIAL AND METHOD: We evaluated 5 patients with unilateral congenital clubfoot deformity. Magnetic resonance imaging was performed of both feet using 1.5-T magnet. Based on the resulting magnetic resonance imaging volume data, a three-dimensional surface bone model was reconstructed by the Marching Cubes method. We used this model to perform a comparative analysis of the volume and volume ratio of each cartilaginous anlage and ossific nucleus, the length of the talus and the calcaneus, and the position of the center of gravity of ossific nuclei within the cartilaginous anlagen. We measured the relationship between the ossific nuclei and cartilaginous anlagen in the talus and calcaneus of patients with unilateral clubfoot deformity. RESULT: In clubfeet talus volume was reduced by 20.1% and calcaneal volume was reduced by 15.7%. Furthermore, the volume of the talar ossific nucleus was reduced by 42.6% and that of the calcaneal ossific nucleus was reduced by 12.1%. The length of the clubfoot talus was 8.2% shorter than normal, and that of the calcaneus was 4.8% shorter. CONCLUSION: The assessment technique presented herein was shown to be useful in ascertaining the various pathological characteristics associated with clubfoot.

Calcaneus↗

Congenital idiopathic clubfoot deformities.

Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment.

Clubfoot↗

The significance of prenatally identified isolated clubfoot: is amniocentesis indicated?

OBJECTIVE: Our purpose was to determine the significance of finding an isolated clubfoot on a prenatal sonogram. STUDY DESIGN: All fetuses found to have an isolated congenital clubfoot over a 9-year period were retrospectively identified. Fetuses with associated anomalies were excluded. Review of medical records for obstetric and neonatal outcome and pathologic and cytogenic results were tabulated. RESULTS: Eighty-seven fetuses were identified from our database as having isolated clubfoot on prenatal ultrasonography, with complete follow-up available for 68 fetuses. Sixty of the 68 fetuses were confirmed as having clubfoot after delivery (false-positive rate = 11.8%). The male/female ratio was 2:1. Four fetuses (5.9%) had abnormal karyotypes: 47,XXY, 47,XXX, trisomy 18, and trisomy 21. Nine fetuses had hip or other limb abnormalities noted after birth. Other anomalies not detected until delivery included a unilateral undescended testis, ventriculoseptal defects (n = 2), hypospadias (n = 2), early renal dysplasia, mild posterior urethral valves, and a two-vessel cord. Five of the 68 patients (including those with aneuploidy) had pregnancy terminations. Eleven patients were delivered preterm. CONCLUSION: Karyotypic evaluation is recommended when isolated clubfoot is identified on prenatal sonogram because other subtle associated malformations may not be detected ultrasonographically in the early second trimester.

Abnormalities, Multiple↗

The natural history and longitudinal study of the surgically corrected clubfoot.

Surgical treatment for clubfoot has been largely directed at finding the best one-stage operation for the resistant clubfoot. Eighteen patients with 27 clubfeet (average follow-up 11 years since first surgery; range, 3.5-24 years) were reviewed. More than one clubfoot operation was required in 56% of cases. Forty-six percent were corrected after one surgery; 33% required a second surgery and 14% required a third operation. One patient with particularly severe feet required a fourth operation on each foot. The mean age at the time of surgery was 1.26 years, 5.12 years, and 8 years for the first, second, and third operations, respectively. The first operation consisted of a soft-tissue release. The second and third operations consisted of more extensive soft-tissue release and various rearfoot and forefoot procedures. Radiographic values revealed an AP talocalcaneal angle of 18 degrees, AP talo-first metatarsal angle of 6 degrees, lateral talocalcaneal angle of 29.6 degrees, lateral talo-first metatarsal angle of 15 degrees, and calcaneo-first metatarsal angle of 143 degrees. At follow-up all patients had adequate function as determined by personal interview and clinical examination. We conclude that correction of resistant congenital clubfoot often requires more than one surgery, not because of a "failed first operation," but due to dynamic muscle imbalances that may not be fully recognized in infancy and early childhood. Thus, the need for a second operation should not be perceived as a failure of the first, but as part of the natural history of congenital clubfoot.

Adolescent↗

Antenatal sonographic diagnosis of clubfoot: a six-year experience.

In the period 1988 through 1993, 6351 pregnant women were referred to the Department of Obstetrics and Gynaecology, University "La Sapienza", Roma, for suspected fetal anomalies or maternofetal problems. All underwent serial transabdominal and/or transvaginal ultrasound scanning, which revealed a total of 235 fetuses with hydrocephalus, cardiac, or musculoskeletal malformations. Forty-one clubfeet were detected in 27 pregnancies in the early part of the second trimester of pregnancy. Of these, 14 feet in eight patients were isolated, and were classified as idiopathic. A clubfoot was associated with neural tube defects in six patients, with anomalies of the urinary and/or digestive system in a further six, with a cystic hygroma in two, and with other musculoskeletal abnormalities in the other six patients. Amniocentesis revealed an abnormal karyotype in six fetuses (22.2%). In only two cases was oligohydramnios present. In both these patients, a fetal urinary tract malformation was present Polyhydramnios was found in 18 cases, and a normal amount of amniotic fluid was found in the remaining seven cases. Polyhydramnios was present in six of the eight idiopathic clubfoot fetuses. Clubfoot is associated with musculoskeletal and visceral anomalies in a high proportion of cases. The association of clubfoot with polyhydramnios in a high proportion of cases does not support the hypothesis of intrauterine moulding as an etiological factor in its development. Ultrasonographical prenatal detection of a clubfoot should prompt amniocentesis, as the condition is associated with an abnormal karyotype in a significant proportion of cases.

Abnormalities, Multiple↗

[Results of operative therapy of idiopathic clubfoot using a dorsomedial approach with soft tissue preparation "à la carte"].

INTRODUCTION: Several concepts have been published for therapy of idiopathic clubfoot. Actually the Cincinnati approach is the "gold-standard" in operative treatment of idiopathic clubfoot. Using this approach delayed wound healing and overcorrection are wellknown complications. During the last 30 years a dorsomedial approach is used in operative treatment of idiopathic clubfoot in our clinic. Using this approach a dorsal, medial and/or lateral release can be performed. Postoperatively a plaster cast is used. The following years a rigid therapy with orthosis and support is requested. PATIENTS AND METHOD: Between June 1986 and December 2000 130 clubfoot operations with soft tissue release were performed. 119/130 (91 %) patients could be clinically and radiologically followed-up after a mean of 4.5 years (min: 2, max: 17) including 65.5 % male and 34.5 % female patients. Average age at time of operation was 7.6 months. The findings were classified according to Dimeglio. To evaluate the clinical results the score according to Laaveg and Ponseti was used. X-rays with load (a. p. and lateral view) were evaluated preoperatively and at follow-up for a. p. and lateral talocalcaneal angle, talometatarsal-I-angle, calcaneometatarsal-V-angle and the angle of the first ray. Additionally complications and recurrences were documented. RESULTS: 21.8 % of the feet were classified IV degrees , 39.5 % III degrees and 38.7 % II degrees according to Dimeglio. Recurrent clubfoot was found in 7.6 % of all cases. All angles showed a significant improve. At latest follow-up 95.6 +/- 9.2 points according to the score of Laaveg and Ponseti were achieved. Flat top talus was found in 37 cases. CONCLUSION: The dorsomedial approach allows an excellent correction of clubfeet with a low rate of complications and recurrences in comparison to other studies.

Achilles Tendon↗

Evaluation of pathologic abnormalities of clubfoot by magnetic resonance imaging.

Three-dimensional analyses of clubfoot in infants younger than 1 year of age were done using magnetic resonance imaging in an in vivo study. Twenty-one patients (31 feet) with congenital clubfoot were examined. The average age at examination was 8.6 months (range, 4-12 months). All patients originally were treated using corrective casts. Seventeen feet required complete subtalar release operations and the remaining 14 feet were treated conservatively with various orthoses. Four measurements using magnetic resonance imaging were performed in the transverse and coronal planes as follows: the calcaneus adduction angle, to define the degree of medial rotation of the calcaneus in the transverse plane; the navicular angle, to define the degree of medial displacement of the navicular; the talus neck angle, to define the degree of medial angulation of the talus; and the calcaneus shift index, to define the degree of medial shift of the calcaneus beneath the talar head in the coronal plane. In the results, all four measurements of clubfoot on magnetic resonance imaging were statistically different from those of normal feet. In the surgical group there were statistical differences in the calcaneus adduction angle, the navicular angle, and the calcaneus shift index (including two feet of patients whose parents had rejected proposed treatment), compared with the conservative group, but there was no statistical difference in the talus neck angle. Magnetic resonance imaging could delineate the three-dimensional abnormalities of the tarsal bones in clubfoot and quantitatively evaluate the severity of clubfoot.

Clubfoot↗

Morphometric study of clubfoot tendon sheaths.

The clinical characteristics of clubfoot suggest a relative hypoplasia of the posterior and medial foot and leg. To test this hypothesis we compared quantitative cell and organelle characteristics between anterior and posterior tibial tendon sheaths from four clubfeet and two normal feet. Clubfoot posterior tibial tendon sheath had significantly less cell and cytoplasm volume than did clubfoot anterior sheath. Normal posterior tibial tendon sheath had significantly greater cell and cytoplasm volume than did normal anterior sheath. A similar tendency was found for nuclear volume and cell number, although not all samples reached statistical significance. No difference in organelle characteristics between anterior and posterior sheaths was found. We interpret this morphologic difference as suggesting a relative inactivity of clubfoot posterior tibial tendon sheath cells. This supports the hypothesis of a regional growth disturbance as the cause of clubfoot.

Cell Count↗

Clubfoot analysis with three-dimensional computer modeling.

Which way are the bones rotated in a clubfoot? This question has long been debated by clubfoot surgeons. Opinions have been based on observations from surgery, radiographs, and autopsies. These methods all have pitfalls and are subject to misinterpretation. We used three-dimensional computer modeling to analyze histologic sections of a newborn clubfoot and a newborn normal foot. Relative to the bimalleolar axis in the axial plane, the normal talus demonstrated 5 degrees of internal rotation of its body and 25 degrees internal rotation of its neck. The clubfoot talus showed 14 degrees of external rotation of its body and 45 degrees of internal rotation of its neck. The calcaneus was externally rotated 5 degrees in the normal foot and internally rotated 22 degrees in the clubfoot.

Calcaneus↗

Congenital clubfoot: results of treatment of 54 cases.

Fifty-four patients with congenital clubfoot (total: 82 club feet) were observed at the 2nd Department of Orthopaedic Surgery of Rome University from 1970 to 1980. The conclusions of this study were the following: The patients with congenital clubfoot who had a uniform treatment from the beginning at the same hospital obtained better results than those who received previous treatments at other hospitals. A relapse was considered as a recurrence of the initial deformity after complete recovery and not as an incompletely corrected congenital clubfoot. In many of the patients with clubfoot who were treated, no direct correlations existed between the radiographic and clinical results. Of the patients with clubfoot who received an early treatment by posterior release, 89% had excellent and good results. One- or two-stage posteromedial releases did not prevent relapses, even though those done in one stage obtained better results. The transfer of the anterior tibial tendon to the third cuneiform proved to be the most effective procedure to prevent and correct relapses.

Casts, Surgical↗

Retinoic acid-induced clubfoot-like deformity: pathoanatomy in rat fetuses.

The purpose of this assay was to study the hindfoot patho-dynamic in clubfoot-like deformity during fetal development. Experimental induction of clubfoot-like deformity in rat fetuses was produced by maternal administration of retinoic acid (120 mg/kg body weight) as a single intragastric dose on day 10 of pregnancy. Hindlimbs from fetuses at 17, 19, and 21 days were removed, and serial sections in three planes were made. Experimental and control hindlimbs were studied. There was clubfoot-like deformity in 86.5% of the experimental fetuses and none in the controls. Other associated malformations found were craniofacial (96.3%), neural tube (75.7%), and club-hand (40.3%) defects. Persistence of the embryonic position of the talus and tibia in fetuses with severe clubfoot-like deformity was observed. No overlapping between talus and calcaneus was seen. An equinus position, medialization of anterior segment, and lateralization and inward torsion of the posterior body of the calcaneous were observed. Results of this study showed that there are rotational anomalies in the hindfoot and full hindlimb from the beginning of the fetal period, and these anomalies increase during development. This simple model may allow us to gain better knowledge in congenital clubfoot deformity.

Animals↗

Treatment of idiopathic clubfoot: an historical review.

Idiopathic clubfoot, one of the most common problems in pediatric orthopaedics, is characterized by a complex three-dimensional deformity of the foot. The treatment of clubfoot is controversial and continues to be one of the biggest challenges in pediatric orthopaedics. This controversy is due in part to the difficulty in measuring and evaluating the effectiveness of different treatment methods. We believe the heart of the debate is a lack of understanding of the functional anatomy of the deformity, the biological response of young connective tissue to injury and repair, and their combined effect on the long-term treatment outcomes. The aim of this review is not only to assess the different methods of clubfoot treatment used over the years in light of an evolving understanding of the pathoanatomy of the deformity, but to also clarify factors that allow a safe, logical approach to clubfoot management. Further research will be needed to fully understand the pathogenesis of clubfoot, as well as the long-term results and quality of life for the treated foot.

Clubfoot↗