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PubMed2001

Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis.

Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome.

Adult↗
PubMed2004

Repeatability of sonographic measurements in clubfeet.

PURPOSE: To assess the intra- and interobserver agreement of ultrasound assessment of clubfoot patho-anatomy in early childhood. MATERIAL AND METHODS: Seventeen clubfeet in 12 children were sequentially scanned by 2 examiners and repeat assessments were carried out independently. Three well-defined imaging planes were chosen to evaluate navicular displacement: the medial malleolus-navicular (MM-N) distance, soft tissue thickness, talar deformity and the calcaneo-cuboid (C-C) distance. Intra- and interobserver agreement was analysed using Cohen's kappa for the discrete variables and by Bland-Altman's graphic technique for measurements. RESULTS: Kappa values for intra-observer agreement were 0.82 for navicular displacement, 0.93 for "talar head pointing laterally", and 0.70 for medial deviation of the talar neck. The corresponding interobserver kappa values were 0.70, 0.68, and 0.36. The mean difference between the two observers for the MM-N distance was 0.42 +/- 3.0 mm and for the soft tissue thickness 0.35 +/- 2.0 mm; the C-C distance showed a mean interobserver distance of 0.0 +/- 2.8 mm. CONCLUSION: The imaging planes used to study the talo-navicular and calcaneo-cuboid relationships are reproducible and relatively easy to learn. Intra- and interobserver assessments were acceptable for MM-N distance, soft tissue thickness, navicular displacement and "talar head pointing laterally", but questionable for the C-C distance and medial deviation of the talar neck.

Clubfoot↗
PubMed2000

Plasma total homocysteine, pregnancy complications, and adverse pregnancy outcomes: the Hordaland Homocysteine study.

BACKGROUND: Total homocysteine (tHcy) measured in serum or plasma is a marker of folate status and a risk factor for cardiovascular disease. OBJECTIVE: Our objective was to investigate associations between tHcy and complications and adverse outcomes of pregnancy. DESIGN: Plasma tHcy values measured in 1992-1993 in 5883 women aged 40-42 y were compared with outcomes and complications of 14492 pregnancies in the same women that were reported to the Medical Birth Registry of Norway from 1967 to 1996. RESULTS: When we compared the upper with the lower quartile of plasma tHcy, the adjusted risk for preeclampsia was 32% higher [odds ratio (OR): 1. 32; 95% CI: 0.98, 1.77; P for trend = 0.02], that for prematurity was 38% higher (OR: 1.38; 95% CI: 1.09, 1.75; P for trend = 0.005), and that for very low birth weight was 101% higher (OR: 2.01; 95% CI: 1.23, 3.27; P for trend = 0.003). These associations were stronger during the years closest to the tHcy determination (1980-1996), when there was also a significant relation between tHcy concentration and stillbirth (OR: 2.03; 95% CI: 0.98, 4.21; P for trend = 0.02). Neural tube defects and clubfoot had significant associations with plasma tHcy. Placental abruption had no relation with tHcy quartile, but the adjusted OR when tHcy concentrations >15 micromol/L were compared with lower values was 3.13 (95% CI: 1.63, 6. 03; P = 0.001). CONCLUSION: Elevated tHcy concentration is associated with common pregnancy complications and adverse pregnancy outcomes.

Abruptio Placentae↗
PubMedDate not supplied

Section of the abductor hallucis tendon for correction of metatarsus varus deformity.

Section of the abductor hallucis tendon is recommended for early correction of the metatarsus adductus deformity especially in the residual of a treated equinovarus foot. The operation is simple and safe, with very little postoperative morbidity. The effectiveness of the procedure is enhanced if a tight abductor hallucis tendon is demonstrated. The operation may also be helpful in conjunction with other surgical procedures for correction of the varus deformity of a clubfoot.

Child↗
PubMed2002

Psychiatric disorders after childhood stroke.

OBJECTIVES: To determine the rate, types, and correlates of psychiatric disorder (PD) following stroke and orthopedic disorders in children and adolescents. METHOD: Children aged 5 to 19 were assessed. The study used a cross-sectional design that compared 29 stroke subjects with 29 congenital clubfoot or scoliosis subjects. Assessments of psychiatric status; cognitive, adaptive, academic, and family functioning; family psychiatric history; neuroimaging; and neurological status were conducted. The main outcome measure was a current PD not present before the stroke or orthopedic disorder. RESULTS: Poststroke PD occurred significantly more often than postorthopedic diagnosis PD (17/29 [59%] versus 4/29 [14%], p < or =.001). Subjects with ongoing poststroke PD had significantly more impaired intellectual and adaptive functioning, higher intensity family psychiatric history scores, and tended toward higher neurological severity index scores, but they were not different regarding lesion volume or family functioning compared with stroke subjects without PD. Regression analyses showed that neurological severity and family psychiatric history independently contributed significantly to predicting PD. CONCLUSIONS: The data suggest that there are significant biopsychosocial correlates of PD in children with focal neurological lesions. These include a relatively abnormal neurological exam, lower IQ, and increased family psychopathology.

Adolescent↗
PubMedDate not supplied

Congenital talipes equinovarus in spina bifida: treatment and results.

The results of the surgical treatment of clubfoot deformity in spina bifida by radical posteromedial-lateral release (PMLR) are presented. In all cases, the Cincinnati incision was used and the tendons excised, including the anterior tibial tendon. In 21 feet, a special K-wire was used to derotate the talus in the ankle mortise. The minimum follow-up was 2 years. The average age at surgery was 14 months. The overall results showed 63% good, 14% fair, and 23% poor results. In the 21 feet in which the talus K-wire was used, 76% had a good result, 14% fair, and 10% poor. The results were also analyzed based on the motor level. In the thoracic/high lumbar level, 50% had a poor result. In the low lumbar and sacral level groups together, of 45 feet, five had a poor result. This study shows that a radical PMLR can produce an overall good and fair result in 77% of the cases. The use of the K-wire to derotate the talus led to an improvement in the result. The tendon excision leading to a flail foot corrects any residual muscle imbalance. The poor results seen in the thoracic/high lumbar patients are likely to be related to the lack of weight bearing in view of their motor paralysis.

Bone Wires↗
PubMedDate not supplied

Ankle valgus and clubfeet.

Congenital equinovarus is a complex deformity that involves the ankle as well as the foot. Although equinus is the obvious and presenting ankle deformity that is typically addressed with serial manipulation, casts, and surgery, ankle valgus is a more insidious and often overlooked problem that evolves with growth. With a high prevalence (67% in this series), it may, in some cases, ameliorate the effects of residual hindfoot varus. More commonly, it may result in prominence of the medial malleolus, lateral shift of the ground reactive forces, compression of the lateral portion of the distal tibial epiphysis, fibular impingement, and excessive shoe wear. If mistaken for hindfoot valgus ("overcorrected clubfoot"), inappropriate hindfoot surgery may result. Although one may temporize with orthoses, definitive treatment options include medial malleolar epiphysiodesis or, in mature patients, supramalleolar osteotomy. We recommend a weight-bearing anteroposterior radiograph of the ankles in any patient presenting with valgus and suspected of having overcorrected congenital equinovarus, particularly if surgical intervention is being contemplated. If valgus deformity is noted in the ankle, hindfoot surgery may be contraindicated.

Adolescent↗
PubMedDate not supplied

Changing paradigm for the treatment of clubfeet.

Clubfoot is one of the most common pediatric orthopaedic conditions. Until recently, surgical management was the treatment of choice. Nonoperative treatment techniques, including the Ponseti casting and French physical therapy methods, have peeked interest of orthopaedists eager to find a less aggressive treatment method that can assure a lasting, good result. Both methods have proven successful in reducing the number of patients requiring extensive surgical release and, as a result, have become an integral part of pediatric orthopaedic practice. A clear understanding of both treatment methods is important for the orthopaedic nurse to allow quality nursing care and help assure a successful outcome for young patients.

Casts, Surgical↗
PubMed1994

Birth defects surveillance: Jefferson County, Alabama, and Uppsala County, Sweden.

Birth defects in live-born infants were documented for 2 years in Jefferson County, Alabama (USA)--1986 and 1987--and in Uppsala County, Sweden--1985 and 1986. A total of 27,561 live births (9,179 white male, 8,728 white female, 4,883 black male, and 4,771 black female infants) occurred in Jefferson County; 6,896 live births (3,535 male and 3,361 female) were recorded in Uppsala County. These newborns were studied to establish a database of birth defects for the two small geographic areas and to study similarities and differences. Rates of hip dislocation, heart malformations, and clubfoot were high in Swedish infants. Similar frequencies of spina bifida and polydactyly were noted in Alabama whites and Swedish infants. Regional registries offer a systematic approach to detection of clustering of specific birth defects, identification of families for further study, location of patients with unique needs, and enhanced coordination of health services, including genetic counseling.

Alabama↗
PubMed1993

Knee, lower leg, foot, and ankle disorders in children.

The literature of the past year increased our understanding of the etiology of some common lower leg disorders in children, and increased our knowledge about the results and complications of some old and new treatment methods. Histochemical and vascular studies and magnetic resonance imaging were used to study the etiology and treatment of congenital clubfoot. Results of early intervention protocols and the ilizarov method were reported. Undercorrection at primary surgery was identified as a major reason for reoperation. Excision of the coalition with interposition of fat or tendon produced good results in selected children with middle facet talocalcaneal coalition. A footprint-measuring system can differentiate among a normal foot, a flexible flatfoot, and a rigid flatfoot. Classification of metatarsus adductus was questioned, and polydacytyly of the foot was classified in detail. The treatment of leg length discrepancy and angular deformities by osteotomy, hemiepiphysiodesis, and external fixation techniques was described. Several treatments were reported for congenital pseudarthrosis of the tibia. In all, the reports of the past year offer hope for improving the results of treatment by better understanding, innovative surgical techniques, and better methods to determine timing of surgery and predicting results.

Bone and Bones↗
PubMed2003

Fibular shortening in clubfeet.

Seventy-eight children (105 feet) operated on for congenital clubfoot with two different procedures - limited posteromedial-lateral release and complete subtalar release - were analysed. For all of them the age at operation ranged from 3 to 76 months (mean 17 months) and follow-up from 41 to 84 months (mean 58 months). The control group consisted of 42 opposite feet from the patients with a unilateral deformity. In all the feet operated on, a higher positioning of the fibula in relation to the talar dome was found. A correlation between the high positioning of the fibula and the strength of the plantar flexors was noted in children operated on by limited posteromedial-lateral release (the weaker the strength of the plantar flexors the higher the position of the fibula in the ankle). There was no correlation between the position of the fibula and the hindfoot valgus, the limited range of motion within the talo-calcaneo-navicular joint, and the talo-calcaneal angle in the anteroposterior view. In the same group, the difference in the distance between lateral malleolus and talar dome in the healthy and affected foot did not increase with age, but in the group operated on by complete subtalar release, there was a tendency for increasing shortening.

Child, Preschool↗
PubMed2003

Clinical and functional outcome of relapse surgery in severe congenital talipes equinovarus.

From a cohort of 110 idiopathic clubfeet, 26 feet in 18 children requiring surgery for severe relapse have been studied. Surgery comprised a lateral column shortening procedure (Lichtblau) plus or minus a plantarmedial release. Surgery was staged to avoid wound complications. Preoperatively feet were prospectively categorized, according to a system reported by Dimeglio, into one of four grades. This grading system provides a clinical assessment. Children were reviewed on two subsequent occasions. At review feet were again graded and in addition appearance and functional outcome were analysed. This included an assessment of gait, activity and functional limitation. Three children were lost to follow-up leaving 22 feet in seven male and eight female patients available for review. The mean age at surgery was 43 months (23-82 months). The mean time from surgery to first and second reviews was 35 and 56 months respectively. There was a significant improvement in grading at first review compared with preoperative grading (Wilcoxon signed ranks test). Although there remained a significant improvement in grading at second review compared with the preoperative grading, there was a significant reduction in the number of feet in which grading had improved when compared with first review. There was no significant change in function between the two postoperative reviews, with the majority of children experiencing little functional limitation. There were no wound complications. We conclude that relapse surgery, involving a lateral column shortening procedure for severe clubfoot, results in a significant initial improvement when assessed using a grading system. This improvement in grading subsequently decreases over time. However, the functional outcome in such cases remains favourable.

Child↗
PubMed2005

Limb length and girth discrepancy of unilateral congenital clubfeet.

There have been few reports about hypoplasia of the femur and tibia in congenital clubfeet. The subjects of this study were 38 patients with unilateral congenital clubfoot. All the measurements were significantly less in the affected side than in the normal side. Although the decrease in length itself was higher in the distal segment, the tibial length contributed mostly to limb length shortening. There was no significant difference between male and female patients. Only the tibial length and the calf girth were significantly less in patients who had undergone surgery than in those without. The discrepancies might not improve with growth, as there was no significant difference between bony mature patients and those who were immature. We conclude that hypoplasia of the femur and the tibia, not only the tarsal bones, does exist to some extent, or it can be said that there must be a generalized decrease in limb size in congenital clubfeet.

Adolescent↗
PubMedDate not supplied

Congenital constriction band syndrome.

A retrospective study of 55 patients with congenital constriction band syndrome was performed. Multiple extremity involvement was found to be the most common clinical feature associated with the disease, and 34% of the patients studied were premature at birth. Malformations included constriction bands, clubfoot, intrauterine amputation, syndactyly, and acrosyndactyly (fenestrated syndactyly). The extremities were most often affected distally, involving the longer central fingers and medial two toes. More proximal involvement with constriction bands was associated with a higher frequency of neurologic deficit. Significant leg-length discrepancy exceeding 2.5 cm was seen in 9 of 38 patients (24%) with lower extremity involvement, a condition that has not been previously reported.

Abnormalities, Multiple↗
PubMedDate not supplied

Absent posterior tibial artery in an infant with talipes equinovarus.

We report the absence of the posterior tibial artery in a 3-month-old patient with idiopathic clubfoot. Although anomalies of the anterior tibial artery are common, complete absence of the posterior tibial artery associated with talipes equinovarus deformity has not been reported.

Child, Preschool↗
PubMedDate not supplied

Soft-tissue expander failure in severe equinovarus foot deformity.

Soft-tissue expanders have recently been reported to be useful in clubfoot surgery. We report our experience with this procedure in five patients with seven severe equinovarus foot deformities. The primary diagnoses of these patients included distal arthrogryposis, cerebro-oculo-facial syndrome, ischemic contracture and spina bifida. Our patients' major complications included ischemia, infection, and sepsis, which resulted in premature removal of the soft-tissue expanders in five of seven clubfeet. Minor complications, such as partial wound dehiscence, occurred in the two successful expansions. Predisposing factors may include soft-tissue expanders with self-contained ports, poor compliance, and extremely tight tissues that limit the subcutaneous space available for expansion, with resultant diminution of the vascular supply to the overlying skin.

Arthrogryposis↗
PubMedDate not supplied

Tibial osteotomy as a salvage procedure in the treatment of congenital talipes equinovarus.

Fourteen children (19 feet) ranging in age from 2.1 to 17.0 years (mean, 7.6 years) underwent tibial osteotomy for treatment of congenital talipes equinovarus (CTEV). The indications for tibial osteotomy were persistent or recurrent equinovarus deformity and internal rotation of the foot (medial malalignment syndrome), in most cases with severe distortion of the hindfoot joints resulting from previous operations. In 12 feet (9 children), bi- or triplanar supramalleolar osteotomy for the correction of all the elements of the deformity was performed. In the remaining cases, external rotation tibial osteotomy below the tuberosity in five feet (three children) and supramalleolar in two feet (two children) was performed. The follow-up ranged from 1 to 16 years (mean, 4.3 years). Partial or full improvement, concerning one or more elements of the equinovarus deformity, has been achieved in 11 feet (nine children). In eight feet (five children), tibial osteotomy did not improve the deformity. There are exceptionally rare indications for use of tibial osteotomy in the treatment of CTEV or medial malalignment syndrome after failed clubfoot surgery. They concern older children and adolescents with secondary osteoarthritis of the feet resulting from previous multiple operations.

Adolescent↗