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At least 1,387 records · Page 77Linked to original sources
PubMed1988

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases.

We performed a neuropathological study on 5 fetuses with an autosomal recessive, lethal syndrome of congenital contractures diagnosed by fetal hydrops on ultrasonography. The fetuses showed a typical pattern of malpositioning of hips and knees with occasional pterygia of the neck and elbows. The muscles were hypoplastic and the spinal cords showed severe thinning, most markedly affecting the ventral half. A total loss of axons in the ventral and lateral funiculi, subtotal loss of anterior horn motor neurons with accompanying astrocytosis and astrogliosis, and similar but less severe changes at the brain stem level suggested a degenerative rather than a dysmorphogenetic mechanism. Sensory nuclei and pathways were distinctly less severely affected, if at all. The findings further delineate this condition as a genetically and pathoanatomically distinct autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1992

Paraplegia and congenital contractures as a consequence of intrauterine trauma.

We present a newborn infant with paraplegia and contractures of the lower limbs, consistent with neurologic injury rather than malformation. The mother was involved in a severe motor vehicle accident during the sixth month of pregnancy. We propose that this infant's injuries are a result of that accident.

Accidents, Traffic↗
PubMed1993

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.

Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome.

Abnormalities, Multiple↗
PubMed2004

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urinary bladder. Association of LCCS2 to the known loci associated with arthogryposis was excluded. In the present study, we set out to determine the genetic locus harboring the gene defective in this disease. We performed genome-wide linkage analysis, demonstrating linkage to a approximately 6 cM (corresponding to approximately 7.2 Mb) homozygosity region on chromosome 12q13 between markers D12S1604 and D12S83. Based on recombination events, the interval harboring the disease-associated locus was further narrowed to a region spanning approximately 6 cM ( approximately 6.4 Mb) between D12S325 and D12S1072. Linkage of LCCS2 to that locus was established, with two significant maximum peaks at markers D12S1604 (Z(max) = 10.56 at theta = 0.01) and D12S1700 (Z(max) = 9.23 at theta = 0.00).

Chromosome Mapping↗
PubMed2005

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

Two unrelated girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB.

Adolescent↗
PubMed1981

Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.

Clinical, electromyographic, and muscle biopsy findings in the two largest known families with Emery-Dreifuss humeroperoneal muscular dystrophy indicate that this is an X-linked recessive muscle disease with stereotyped clinical manifestations but with variable pathological and electromyographic characteristics. Elbow contractures, involvement of humeral muscles, hyporeflexia, and abnormal electrocardiograms are present in our patients. The disorder is associated with a potentially lethal cardiac arrhythmia that should be managed by pacemaker insertion. The skeletal muscle disease is slowly progressive and is usually not life threatening. Muscle biopsy commonly shows type I fiber atrophy. Electromyography usually indicates myopathy, though the classic findings of myopathy may not be present in every muscle.

Adolescent↗
PubMed1998

Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.

We describe a new myopathy in a large family with 19 affected cases. Inheritance was autosomal dominant. Characteristic clinical features were congenital joint contractures, which normalized during early childhood, external ophthalmoplegia, and proximal muscle weakness. Muscle atrophy was most prominent in the pectoralis and quadriceps muscles. The clinical course was nonprogressive in childhood, but most adult cases experienced deterioration of muscle function, starting from 30 to 50 years of age. The major histopathological change of skeletal muscle in childhood was focal disorganization of myofilaments. In adults with progressive muscle weakness, the muscle biopsies showed dystrophic changes and rimmed vacuoles with cytoplasmic and intranuclear inclusions of 15- to 21-nm filaments. These findings suggests that this new disease should be classified as a variant of hereditary inclusion body myopathy.

Actin Cytoskeleton↗
PubMed2004

Hyperbaric oxygen for the treatment of early-phase Dupuytren's contracture.

Dupuytren's disease (DD) is a proliferative disorder of autosomal-dominant inheritance, with variable penetrance of gene expression. The treatment of DD is challenging. Both operative and nonoperative approaches were reported for treatment of the disease, but no perfect approach has gained popularity as the best choice of treatment. Most of the emphasis has been placed on surgical techniques, but outcomes were reported to be dependent on some variables such as case selection, timing of surgery, and the surgeon's training and experience. In this paper, we report on a hyperbaric oxygen (HBO) treatment for early-phase DD. HBO treatment was applied to a female aged 23 years who had a mild form of DD. Physical findings and complaints before and after HBO treatment were compared. Total relief of symptoms as well as physical findings were obtained with HBO treatment. HBO for the treatment of DD is a novel concept. Having treated only one case is not enough to conclude that HBO is the only effective mode of treatment for DD. HBO should also be tried to treat early-phase or mild contractures of DD. Unfortunately, HBO has a disadvantage, i.e., cost. But HBO is not invasive, and because of the nature of HBO treatment, most of the complications seen after surgeries, e.g., wound-healing problems, damage to the digital nerves and vessels, buttonholing of the skin, and tendon sheath opening, are not seen.

Adult↗
PubMed1992

Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2.

Two 2-year-old males underwent muscle biopsy that established the histopathologic diagnosis of Becker dystrophy in one, and Duchenne dystrophy in the other. Concomitant contracture testing with caffeine or halothane was normal for malignant hyperthermia (MH). The results suggest that acute hypermetabolism or acute rhabdomyolysis during anesthesia, in patients with these disorders, is related to the X-linked myopathy and its associated muscle deterioration, rather than to the autosomal dominant MH.

Age Factors↗
PubMed1987

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures.

An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.

Abnormalities, Multiple↗
PubMed1994

Prevalence of HLA-DR3 and autoantibodies to connective tissue components in Dupuytren's contracture.

Forty-six patients with Dupuytren's contracture (DC) and 55 control persons were HLA-typed for class I and HLA-DR class II antigens and were investigated for the presence of autoantibodies against elastin (ELAB) and collagen types I-IV (ACA I-IV). Using the chi 2 test, obtained from 2 x 2 contingency tables, a significant association was found between DC and HLA-DR3 and autoantibodies to types I-IV collagen. ELAB and ACA I and III were significantly correlated with HLA-DR3 in the whole group of patients plus controls. In analogy to other diseases with autoimmunologic features the presence of HLA-DR3 therefore seems to indicate a higher risk for the formation of connective tissue autoantibodies. The remodeling processes during the course of fibrosis in DC might be responsible for this autoantibody formation.

Adult↗
PubMed1991

Isolated contracture of the long head of biceps femoris muscle.

A rare case of contracture of the long head of biceps femoris in a soccer player is described. Degeneration was probably caused by repeated corticosteroid injections. He made a full recovery after release of the shortened long head.

Adrenal Cortex Hormones↗
PubMed1996

Contracture of the shoulder joint.

The movements of the shoulder joint may sometimes be markedley limited due to posttraumatic or inflammatory changes in the shoulder joint or in adjacent organs, a condition designated as contracture of the shoulder joint or frozen shoulder. The routine treatment consists of positioning the arm as often as possible in abduction, and of diligent active and passive mobilization exercises. In those patients who started the treatment after a long delay so that the articular as well as the periarticular tissues were very shrunken, manipulation of the shoulder joint was carried out under general anesthesia this led to the return of full motion of the joint in the great majority of these patients. However, in those patients who did not benefit by manipulation, surgical revision of the joint and of periarticular structures was carried out for excision of all scarified tissues. The result was restoration of the mobility of the joint to an adequate although not total range.

Adult↗
PubMed1985

An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy.

An infant is presented with a Marfanoid phenotype and congenital contractures. In addition to this she showed severe neurological and ocular abnormalities. Cardiac insufficiency due to mitral and tricuspidal valve prolapse caused her death at the age of 6 months. Postmortem examination showed axonal pathology of the anterior horns and roots of the spinal cord, and white matter hypoplasia of the brain.

Abnormalities, Multiple↗
PubMed1991

Lateral band release for post-traumatic extension contracture of the proximal interphalangeal joint.

In the patient with scarring of just the central band and lateral bands, there is a loss of active and passive flexion of the proximal interphalangeal (PIP) joint because the lateral bands have lost their normal volar shift. Surgical freeing of the lateral bands from the central band using parallel incisions may be required to allow full flexion of the PIP joint. This study reports on 10 patients with post-traumatic extension contracture of the PIP joint treated by lateral band release. All operations were successful, with an average gain in range of motion of 47.5 degrees. This technique is simple, quick, and can be performed effectively on an out-patient basis.

Adult↗
PubMed1980

Flexion contractures in a diabetic child (Rosenbloom syndrome).

Limited movement in the fingers and in other joints of a diabetic boy is described. Although a slight contracture of the little finger was observed when diabetes was diagnosed, the progressive nature of the process was only clarified after 8 years. According to the results of te clinical findings the changes are the consequence of rigidity of the connective tissue. The vital capacity of the lungs was also diminished in our patient.

Adult↗
PubMed1983

Changes in alkaline phosphatase activity in rabbit articular cartilage associated with ageing and joint contracture.

Changes in alkaline phosphatase (ALPase) activity in rabbit articular cartilage induced by joint contracture were studied by light and electron microscopy. The knee joint was plaster-immobilized for 3--9 weeks in the flexion position. Three different age groups of rabbits were examined, at the age of 1 month (young), 1 year (adult), and over 2.5 years (old). ALPase activity was detected in the cartilage taken from the distal end of the femur, employing the lead citrate method. Positive activity was primarily localized in the plasma membrane of the chondrocytes and also in the pericellular matrix vesicles. Before immobilization the positive cells were distributed exclusively in the deep zone of the cartilage, whereas after immobilization activity was present in cells both in the middle and deep zones. This phenomenon was most evident in the old group.

Aging↗