Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ARTHROGRYPOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 289 records · Page 16Linked to original sources
PubMed2001

[Surgical treatment of upper extremities of cases arthrogryposis multiplex congenita].

Between 1990-1999 at the Polish-American Pediatric Institute 36 children with arthrogryposis were treated. In 10 cases 21 corrective surgical procedures of the upper extremities were performed. Corrective procedures of the upper extremities were performed. Corrective procedures aimed at contractures of the hand, wrist and forearm, consisting of capsulotomies, lengthening of the finger flexor tendons and transposition of wrist flexor on to the wrist extensors were performed 8 times. Correction of extension contracture of elbow joint, consisting of posterior capsulotomy and lengthening of the triceps tendon was performed 9 times. In 4 cases transposition of the pectoralis major onto the biceps tendon according to Clark or Zancolli in Carrol's modification was performed. The average age of the children was 4.7 years (age ranging from 1.5 to 9 years), the follow-up period was 4.25 years (ranging from 0.5 to 10 years). Palmer contracture of the wrist was an average 80 degrees (70-90 degrees) before surgery. Passive flexion in the elbow joint was on average 15 degrees (0-35 degrees). Active flexion of the elbow was absent in all cases. After corrective procedures in the wrist, in 5 cases physiological positioning of the was achieved. After lengthening of the triceps tendon passive flexion of elbow was 80-90 degrees, in one extremity 70 degrees. After the Clark or Zancolli procedures active flexion of the elbow was 80 degrees in one case, 70 degrees in another and 50 degrees six months post-op. The author's own experiences indicate that and multi-stage interdisciplinary approach in necessary from the beginning in these cases.

Arm↗
PubMed2000

Arthrogryposis, renal dysfunction and cholestasis syndrome.

We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral abnormalities (hypoplastic corpus callosum), congenital heart disease and nerve deafness. We suggest that some of these cases might benefit from ursodeoxycholic acid therapy. We believe that this autosomal recessive disorder is possibly under-diagnosed in this region with a high consanguineous marriage rate.

Abnormalities, Multiple↗
PubMedDate not supplied

[Lethal nemalinic myopathy and congenital arthrogryposis].

INTRODUCTION: Nemalinic myopathy (NM) is a non progressive congenital disorder of skeletal muscle, characterized by rod like formations present in muscle fibres, whilst congenital multiple arthrogryposis (CMA) is a syndrome characterized by contractures and articular rigidity which may be due to many causes, including NM. CLINICAL CASE: A boy of 0 h of premature life, with CMA was assessed on the suspicion of neuromuscular disease with normal preliminary studies. Muscle biopsy eventually showed the typical rod like formations of NM. The clinical course was unsatisfactory and he died at the age of five months from respiratory problems. CONCLUSIONS: Diagnosis of NM requires a high index of suspicion and muscle biopsy. At the present time genetic counselling cannot be given after a sporadic case.

Arthrogryposis↗
PubMedDate not supplied

[Medical rehabilitation in arthrogryposis multiplex congenita in the first year of life].

The paper shows that rehabilitation of patients treated for arthrogryposis depends on the beginning of treatment and parents' involvement. Ten patients born between 1981 and 1998 were analyzed. In three patients the results were poor (range of movement increased up to 10), in five patients the results were fair (range of movement increased from 10 to 25), and in two patients the results were good (range of movement increased over 25). Poor result was achieved in patients whose parents were not involved in the treatment, irrespectively of its beginning. Fair results were achieved in patients whose one parent was involved and treatment began early, or both parents were involved and treatment began later. Good results were achieved in patients whose both parents were involved in the treatment, even when the beginning of treatment was somewhat delayed. For success of rehabilitation early beginning of treatment, involvement of both parents with ability of quick learning, longterm provision of treatment, and experienced medical team are mandatory.

Arthrogryposis↗
PubMed1976

Arthrogryposis of the upper extremity.

Patients with arthrogryposis multiplex congenita of the upper extremities can be helped a great deal by comparatively minor procedures. At the outset it is important to decide which patients can be helped and which patients cannot owing to the severity of disease or the social situation. It is also important, of course, to decide which patients do not require surgical or other methods of treatment. Once these decisions are made, one can safely begin in most patients with nonoperative measures, which consist of serial corrective cast applications starting at birth with changes every two to five days initially and then less often as the deformity is corrected. In patients who do not respond to this treatment, surgical intervention is necessary. We feel that surgery will be necessary in a great many of these patients. Surgery most often consists of soft tissue releases about the elbow, principally posterior capsulotomy, and triceps lengthening with or without tendon transfers to gain active motion. In the shoulder, surgery is rarely indicated, and when it is, this will be an osteotomy. In the wrist and hand, bone operations are almost always indicated because soft tissue procedures usually fail. These patients have two advantages in spite of their severe problems: They have normal sensation and they are usually of average or above average intelligence. Any improvement in the position of their extremities and any decrease in deformity will improve their functioning significantly.

Adolescent↗
PubMed1976

Arthrogryposis multiplex congenita of the lower extremity: report of two siblings.

The purpose of treatment of arthrogryposis of the lower extremities is to achieve a stable functional weight bearing position of the affected joints. One cannot expect to achieve normal mobility and gait unless the process is mild. Achieving a functional weight bearing position of a joint may be extremely difficult, requiring repeated surgical procedures. Maintenance of correction, although often imperfect, is vital during the growing period.

Arthrogryposis↗
PubMed1992

Skin expansion as preparation for an opening wedge osteotomy of the mid-foot in arthrogryposis.

A case report is presented in which tissue expansion is used to provide the additional skin needed during an opening wedge mid-foot osteotomy to correct a varus foot deformity in a patient with arthrogryposis multiplex congenita. Tissue expansion is a relatively new method of acquiring coverage for wounds which may have advantages over previous techniques. The risks and drawbacks of this technique will be described in detail.

Arthrogryposis↗
PubMed2004

[Arthrogryposis associated with facial scoliosis and torticollis in German Holstein calves].

In 13 German Holstein calves from two different dairy farms arthrogryposis of the front legs, facial scoliosis and torticollis were observed. Obvious environmental reasons could not be found. Chromosomal anomalies in two affected calves were not detectable. A striking feature was the high frequency of affected calves among the offspring of one natural service sire. A plausible explanation of the congenital anomalies observed is a dominantly inherited mutation restricted to germ cells.

Animals↗
PubMed2005

Dominant form of arthrogryposis multiplex congenita with limited mouth opening: a clinical and imaging study.

AIMS: Arthrogryposis multiplex congenita (AMC) is characterized by congenital contractures and joint deformities, but there are only a few reports of temporomandibular joint (TMJ) involvement. The objective of this investigation was to study the cause of limited mouth movement in this disease. MATERIALS AND METHODS: Four individuals from a family affected by AMC over 5 generations were examined clinically and by magnetic resonance imaging (MRI) and 3-dimensional computerized tomography (3D-CT). RESULTS: The CT scans of the 4 individuals showed hyperplasia of the coronoid process protruding into the infratemporal fossa in 2 of them and cranially to the zygomatic arch in the other 2; the hyperplasia was associated with mechanical limitation of the mouth opening. The MRI showed a disc displacement with reduction in 1 patient and a disc displacement without reduction in another; disc displacement could not be evaluated because of the limited mouth opening in the other 2. The condyle-disc complex of these last 2 individuals could only rotate. The MRI on T2-weighted images showed disc hyposignal in all cases but no alterations in the masticatory muscle tissue. The pedigree of the family suggests an autosomal dominant form of inheritance. CONCLUSIONS: The restriction of mouth opening in the 4 individuals affected by AMC was likely due to osseous dysplasia.

Adolescent↗
PubMed1992

Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.

Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.

Adult↗
PubMed2005

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.

Abnormalities, Multiple↗
PubMed2006

Arthrogryposis multiplex congenita--a rare congenital anomaly.

A 4-year-old female child, known case of arthrogryposis multiplex congenita was posted for bilateral congenital talipes equinovarus (CTEV) correction with unilateral right sided Jess-external fixator. Patient was induced, intubation was possible and maintained with oxygen, nitrous oxide and halothane with non-depolarising muscle relaxant pancuronium bromide. At the end of the surgery patient was reversed and extubated. Recovery was uneventful.

Abnormalities, Multiple↗
PubMed1991

Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence.

Two non-related patients, a boy and a girl, are described suffering from distal arthrogryposis and facial dysmorphism consisting of flat face, hypertelorism and telecanthus, small mouth with thin, downturned upper lip, micrognathia, cleft palate and simple, low-set, posteriorly angulated ears. Feeble fetal movements (case 2), polyhydramnion (case 1) and lung hypoplasia (case 2) were present. On follow-up, both children were severely developmentally retarded. These findings are consistent with the Fetal A/hypokinesia Deformation Sequence (FADS). Survival beyond the neonatal period in this heterogeneous condition seems to be rare. Clinical descriptions of infants with FADS surviving the neonatal period are most important in order to delineate clinically recognizable entities; it may help to disclose pathogenetic basic mechanisms.

Abnormalities, Multiple↗
PubMed1991

Genetic counseling of a couple presenting respectively terminal transverse defects and congenital arthrogryposis.

A 29-year-old woman consulted together with her husband for a problem of congenital joint contractures. Clinical findings in the woman were characteristic of "amyoplasia congenita". In view of the severe distal limb involvement, the possibility of a distal arthrogryposis was also considered. Unexpectedly, the husband presented terminal transverse defects, mainly of the feet, suggestive of Adams-Oliver syndrome, an autosomal dominant condition with variable expression. This discovery significantly altered the counseling given to the couple, i.e. they had to be given a high recurrence risk for congenital limb malformations in their offspring and rigorous echographic monitoring of future pregnancies was advised.

Adult↗
PubMedDate not supplied

[Evaluation of treatment of the hip in arthrogryposis multiplex congenita].

In a retrospective review of 77 patients with arthrogryposis multiplex congenita, 21 showed involvement of the hip (28%). The authors studied 18 cases with hip dislocation (11 bilateral and seven unilateral) and three with hip contracture. There were 12 female and nine male patients ranging their age from one month to 14 years. The follow-up in this series lasted from two to 23 years. The treatment was conservative or surgical. The contractures were treated by manipulation and abduction orthosis in one patient and surgically by multiple hip tenotomy in two. The dislocation was treated by abduction orthosis (two cases), closed reduction (two cases) and open reduction (one case) in the 11 cases with bilateral involvement; for the seven unilateral dislocations the treatment was: closed reduction and abduction orthosis (one case), closed reduction with abductor tenotomy and hip spica cast (four cases) and open reduction followed by hip spica and abduction orthosis (one case); one case remained without treatment of the hip involvement because of severity of deformities in knee and foot. Ten patients of this groups were not treated because they were confined to wheelchairs. The overall result was good in six patients, regular in four and poor in two in the dislocation group; for the three cases of hip contracture the result of treatment was good. In conclusion the authors recommend such treatment for the independent ambulatory patients and emphasize the necessity of treatment of patients with unilateral hip involvement.

Adolescent↗
PubMed1991

[Congenital multiple arthrogryposis. Clinical and genetic study].

Forty six cases of arthrogryposis multiplex congenital (AMC) were studied at the Genetic Departament of the Instituto Nacional de Pediatría (México). Three were familial cases, two of them suggesting an autosomal recessive inheritance and one probably dominant. Almost half of the patients were the product of the first pregnancy. The limbs abnormalities allowed the classification of cases in: generalized AMC (54%), lower limbs (30%), upper limbs (5%) and distal (11%). The commonest associated defects were hemangioma, round face and micrognathia. It is concluded that AMC produces severe limitations and variable degree of severity. Associated defects are common and must be explored. Although the majority are sporadic cases the pedigree may show a mendelian inheritance and genetic counseling is needed.

Abnormalities, Multiple↗
PubMed1990

[A case of congenital multiple arthrogryposis. Considerations].

The paper describes the diagnosis, clinical, anatomopathological and etiopathogenetic aspects of a case of congenital multiple arthrogryposis. The importance of the dialogue between the obstetrician and the parents is underlined in terms of the latters' psychological preparation. The obstetrician must also prepare for an atraumatic delivery, in addition to planning the treatment protocol for the neonate.

Arthrogryposis↗
PubMedDate not supplied

The knee in arthrogryposis multiplex congenita.

The functional, radiological, and ambulatory status of 30 patients (58 knees) with arthrogryposis multiplex congenita (AMC) were analyzed after a follow-up of 1-36 years. The muscular imbalance presented in many of these patients corresponded well to the type of deformity. The primary treatment was nonoperative in most cases. In spite of the initial promising results, a significant number of patients underwent operation for residual symptoms. Treatment of flexion contractures seems to be more discouraging than the treatment of extension contractures. On the other hand, the risk for degenerative arthritis seemed to be elevated, especially in the extension-contracture group.

Adolescent↗