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PubMed1997

Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?

Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in this syndrome may be evidence of a different condition.

Contracture↗
PubMed2001

Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to Ehlers-Danlos syndrome type VI, but with no evidence of lysyl hydroxylase deficiency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMedDate not supplied

Hip flexion contracture and lumbar spine lordosis in myelomeningocele.

The objective of this study was to assess the correlation between hip flexion contracture (HFC) and the sagittal alignment of the lumbar spine in ambulatory children with myelomeningocele. Ambulatory patients with myelomeningocele are generally free of scoliosis or kyphosis. Among them, some develop increased lumbar lordosis. It is postulated that HFC and increased lumbar lordosis may be correlated. Thirty-eight patients, with a mean age of 12.7 years, were evaluated. Standing lateral spine films were obtained and the lumbar lordosis was measured using the Cobb method. HFC was measured using the Thomas test. A statistically significant correlation was found between the lumbar curve and HFC. High values of lumbar Cobb angle (hyperlordosis) were correlated with high values of HFC. These results show a correlation between HFC and increased lumbar lordosis in ambulatory myelomeningocele patients.

Adolescent↗
PubMedDate not supplied

Outcome of subscapularis muscle release for shoulder contracture secondary to brachial plexus palsy at birth.

Children with unresolved brachial plexus palsy frequently develop a disabling internal rotation contracture of the shoulder. Several surgical options, including soft tissue procedures such as muscle releases and/or transfers, and bone operations such as humeral osteotomy are available to correct this deformity. This study describes the effect of subscapularis muscle release performed in isolation. Thirteen patients (5 boys, 8 girls) were reviewed at an average of 3.5 years after their surgery (range, 2-7 years). Their mean age at operation was 4.7 years (range, 1-8 years). Three children had C5-C6 palsies, 8 had C5-C7 palsies, and 2 had C5-C8 palsies. Postoperatively, patients presented significant gains in shoulder active lateral rotation (+49 degrees, from 5 to 54 degrees), active abduction (+30 degrees, from 63 to 93 degrees), active flexion (+46 degrees, from 98 to 144 degrees), and active extension (+23 degrees, from 7 to 30 degrees). Gains were also observed in passive range of motion, but of a lesser degree. Subscapularis muscle release is a procedure we found to have few significant complications and was highly effective in increasing active range of motion and restoring shoulder function.

Brachial Plexus↗
PubMed2006

Increased metabolic activity of fibroblasts derived from cords compared with nodule fibroblasts sampling from patients with Dupuytren's contracture.

BACKGROUND: The pathogenesis of Dupuytren's contracture is characterized by progress in several stages. The disease process includes two structurally distinct fibrotic elements, the so-called nodule and the cord. Several hypotheses have been proposed regarding the cause. Until now, there has been ongoing discussion regarding whether cords or nodules are the primary source of the disease. METHODS: Tissues from 24 patients with Dupuytren's disease were obtained during hand surgery, providing samples from nodules and cords for cell culture. Tissue from the flexor retinaculum excised from healthy patients during surgical procedures on the hand served as control. By using the explant culture technique, fibroblasts were isolated and grown in standard medium. Besides morphological analysis, XTT proliferation tests were performed at various time periods to measure the metabolic activity of the cultivated fibroblasts. RESULTS: Statistical analysis revealed significant differences of nodule- and cord-derived fibroblasts after 1 hour (p = 0.0150), 8 hours (p < 0.0001), and 16 hours (p < 0.0001). CONCLUSIONS: The authors suggest that distinct proliferative properties of Dupuytren-derived fibroblasts are dependent on the cells' origin. Conclusions about the cause or pathogenesis cannot yet be drawn. Further investigation concerning their apparently different fibroproliferative properties is necessary.

Cells, Cultured↗
PubMed2006

Brain abscess associated with eyelid contracture.

A 4-year-old girl presented to our hospital with inability to close her left eye and headache. Seven months earlier, she had fallen and her left eye had been injured. Physical examination and radiologic investigations revealed contracture of the left eye and brain abscess. The case is interesting because we have found out that injuries of the eyelids may lead to intracranial complications in the long term, although they do not cause any symptoms of an intracranial abnormality in the short term.

Brain Abscess↗
PubMedDate not supplied

Soft tissue release for knee flexion contracture in juvenile chronic arthritis.

Twenty-nine soft tissue releases for knee flexion contracture were performed in 23 children 2-15 years of age with juvenile chronic arthritis. The average duration of knee joint involvement was 4.6 years (range 1-11 years), and the mean age at operation was 8.6 years. Twenty-one of the 29 knee joints had a fixed flexion deformity exceeding 15 degrees preoperatively. Twenty-five knees were followed up for a mean period of 3.9 years (range 1-8 years), at which time only eight knees had a flexion deformity exceeding 15 degrees. There was a lasting effect of the release operations, and no significant complications were encountered. It is concluded that the procedure is worthwhile.

Adolescent↗
PubMed2007

Experimental joint contracture correction with low torque--long duration repeated stretching.

Tension is necessary to maintain and restore the mechanical properties of soft connective tissues. Conversely, reduced tension states such as produced by immobilization weaken mechanical properties and facilitate joint contracture. We assessed the effect of low torque-long duration stretching to increase the range of motion (ROM) and to restore the mechanical properties of contracted joints in 66 rat knees immobilized for 40 days. After remobilization, we randomly divided the contracted knees into four treatment groups treated with repeated stretches of diverse torques and duration: stretching with low-torque and long-duration, high-torque and short-duration, high-torque and long-duration, low-torque and short duration. We included control and natural recovery groups. Phase lag in all treatment groups recovered to the same range as in the normal controls. Dynamic stiffness, which was not altered by joint immobilization, increased in all treatment groups. Deformation and load to failure improved substantially only in the low-torque and long-duration stretching group. Low-torque and long-duration repeated stretching leads to a greater restoration of ROM with more normal mechanical properties compared to high-torque and short duration stretching.

Animals↗
PubMed2000

A mechanical arthrometer to measure knee joint contracture in rats.

Animal models for joint diseases are necessary for in vivo studies. Joint contractures are characterized by lack of the normal range of motion of a joint most often due to increased soft tissue stiffness. Biological and biochemical data have been obtained but biomechanical data on small animals are rare. An instrument was developed to measure rat knee angular displacement at various soft tissue loads in normal and pathological circumstances. This article describes the instrument and reports its reproducibility and accuracy. The reproducibility and accuracy of this instrument was found to be acceptable thereby validating its use for research purposes with adult rat knees.

Animals↗
PubMed1984

A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly.

A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty-four syndromes associated with camptodactyly are summarized and reviewed.

Adolescent↗
PubMed1989

Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity.

We report on a family in which individuals have clinical features of both Emery-Dreifuss syndrome (EMD) and X-linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postulated.

Chromosome Mapping↗
PubMed1993

Congenital contractural arachnodactyly in two double second cousins: possible homozygosity.

A Bedouin family with two girls affected by severe congenital contractural arachnodactyly (CCA) is described. The girls were double second cousins. One of the girls also had ambiguous genitalia, an anomaly not generally associated with this disorder. The two children were both the product of first-cousin Bedouin parents from the same family. It is possible that both sets of parents were heterozygous for CCA; thus the infants may have been homozygous for CCA, which is usually an autosomal dominant condition. No instance of homozygous CCA has previously been reported. This family suggests genetic heterogeneity in CCA and that, in some rare families, the mode of inheritance may be autosomal recessive.

Consanguinity↗
PubMed1990

Aetiology of Dupuytren's contracture.

Dupuytren's contracture is a fascinating, deforming, fibrotic condition of the palmar fascia which has confounded clinicians and scientists for centuries. The aim of this paper is to place in perspective the longstanding associations of age, sex, race, hereditary factors, diabetes and alcohol consumption with the more recent novel investigations at the cellular level. In concert, the findings indicate that a number of factors may lead to the narrowing of palmar fascia microvessels, with localized ischaemia and oxygen free radical release. Oxygen free radicals are likely to damage the surrounding stroma, and stimulate fibroblast proliferation. Proliferating fibroblasts lay down collagen and contract in the lines of stress. The process is likely to encourage further microvessel ischaemia with a positive feedback effect that is consistent with the progressive nature of the condition.

Dupuytren Contracture↗
PubMed1978

Results of caecocystoplasty for tuberculous bladder contracture.

The results of caecocystoplasty for tuberculous bladder contracture in 30 patients over a 15-year period are presented. The operative mortality was 3.3%. Poor renal function was not a contraindication to surgery. The results indicate that caecocystoplasty provided relief of symptoms in over 90% of patients. Renal function was preserved and associated obstructive uropathy was usually relieved. Efficient cystoplasty emptying was observed in 80% of patients if detrusor resection was kept to the minimum consistent with a wide caecovesical anastomosis.

Adolescent↗
PubMed1989

Reducing spasticity to control muscle contracture of children with cerebral palsy.

A biofeedback training technique to control spasticity, previously successful with adults with cerebral palsy, was adapted for three children with spastic diplegia at risk for contractures. Visual feedback of muscle stretch reflex sensitivity is provided by video games, which are played by reducing reflex sensitivity. After a 10-week training period two of the three children had significantly reduced spasticity in the gastrocnemius muscle. The technique can be used with children as young as four years, is inexpensive, and can be carried out by parents with supervision by a physiotherapist.

Biofeedback, Psychology↗
PubMed1986

Benign muscular dystrophy with contractures: a new syndrome?

Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal dominant pattern of inheritance is suspected, but the possibility of a Y-to-Y transmission cannot be completely excluded.

Adult↗
PubMed1988

Syndrome of deltoid and/or gluteal fibrotic contracture: an injection myopathy.

One hundred and fifteen cases of injection myopathy with deltoid and/or gluteal fibrotic contracture were studied, almost all of whom had definite histories of repeated intra-gluteal or intra-deltoid injections. One third had siblings affected by the same fibro-muscular disorders manifested by focal muscle atrophy and limitation of adduction and flexion of the shoulder or hip. Electromyography disclosed myopathic changes of the fibrotic muscles. Muscle biopsy showed marked perimysial and endomysial fibrosis with non-specific degeneration, regenerative changes and, in some cases, partial denervation signs. Under the electron microscope, endomysial and perimysial collagen fibrils lost their normal unimodal diameter distribution and showed a rather broad spectral distribution of diameters suggesting a defective control of collagen formation in this disease entity. Repeated injection injuries and myotoxicity resulting in multifocal myositis are the first trigger of this fibrotic syndrome, and abnormal control of collagen formation could be another important pathogenic factor.

Adolescent↗