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 343 records · Page 19Linked to original sources
PubMed1996

[Hip in arthrogryposis multiplex congenita].

PURPOSE OF THE STUDY: In arthrogryposis Multiplex Congenita (AMC) multiple joint contractures and deformities are present. Hips are often affected. In this follow-up study the outcome after primary treatment and secondary surgical procedures was analyzed with clinical and radiological features. MATERIAL AND METHODS: 52 patients with AMC were treated at Children's Hospital, Helsinki. 34 patients had Hip joint involvement. The most common type of Hip joint involvement was a flexion contracture (40 per cent). Thirty-five per cent of patients had rigid dislocations. Ten hips with rigid dislocations and four hips with flexion contractures was primarily operated on. Two failures of the primary operative procedures were noted. Thirty-one dislocated hips were treated non-operatively. RESULTS: In fourteen cases, reduction could not be achieved. Nineteen delayed surgical procedures were done. Acetabuloplasty was made in 6 hips, femoral osteotomy in 8 hips and total hip replacement in 3 hips. Aseptic necrosis of the femoral head encountered for 4 poor results in two cases of acetabuloplasty and 3 hips had a poor range of motion. In flexion contractures of the hips, 6 corrective osteotomies were done and in four cases the results were good. In all cases of total hip replacement the results were good and no complications were seen. DISCUSSION: The inefficiency to achieve reduction of dislocated hips in AMC-patients by conservative methods was confirmed in this study. Although it has been claimed that the majority of patients with flexion contractures can be managed by conservative treatment there were ten patients in this series who did not respond to this form of treatment. CONCLUSION: The primary form of treatment should be operative. Only in selected cases with bilateral dislocations should it be considered to leave the hips untreated. Double femoral osteotomy in recurrent flexion contractures or resistant flexion contractures and total hip replacement in adult patients with hip dislocations are useful methods.

Adolescent↗
PubMed1997

Surgical treatment of clubfoot deformity in arthrogryposis multiplex congenita.

Clubfoot deformity in arthrogrypotic patients is difficult to correct, and its recurrence rate is high. We retrospectively reviewed 37 clubfeet in 20 patients with arthrogryposis multiplex congenita who were treated from 1984 to 1993. There were 11 males and nine females. Bilateral involvement was seen in 17 patients and unilateral involvement in three. The mean age at the initial surgery was 2.5 years (range 4 mo to 25 yr). Soft tissue release alone was performed on 33 feet. Primary talectomy was done on both feet of one other patient. The remaining patient (two feet) underwent triple arthrodesis. Recurrence or residual deformities were seen in 18 feet with soft tissue release, among which 12 feet underwent secondary surgeries including soft tissue release, osteotomy, talectomy and connection with Ilizarov apparatus. After the secondary surgery, four of the 12 feet still had deformities. One foot had a third surgery. Achilles tendon lengthening and osteotomy. Twenty-six feet were rated as having good results (plantigrade, painless and without obvious deformity), seven were rated fair (residual deformity requiring secondary procedures) and four had poor results (persistance or recurrence of clubfoot). Despite a high recurrence rate, clubfoot deformity in arthrogrypotic patients can be treated first with radical soft tissue release when the patient is less than 1 year of age. If the foot deformity is persistant or recurs, talectomy can achieve a plantigrade foot. Triple arthrodesis should be reserved for patients with a mature bony structure.

Arthrogryposis↗
PubMed1997

Earliest evidence for arthrogryposis multiplex congenita or Larsen syndrome?

A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. It is suggested that the combination of abnormalities may represent the earliest case of arthrogryposis multiplex congenita or Larsen syndrome.

Abnormalities, Multiple↗
PubMed1997

Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome.

Fifty-two patients with arthrogryposis multiplex congenita were followed up for 1 to 36 years. There were six twin pregnancies, and delivery was complicated by breech position in 16 cases. In 19 cases the cause was atrophy of the alpha motoneurons of the spinal cord, detected by electromyography. Six patients did not achieve walking ability. Severe disability for other reasons was noted in two patients who had bilateral rigid extension contractures of the elbows and in six patients whose spinal deformities interfered with the balance of the trunk. Treatment of flexion contractures of the hips and knees seemed to be important in case it promotes the walking ability. Spinal deformities interfering with the balance of the trunk should be treated operatively. Restoration of elbow flexion was the main goal in operative treatment of the upper extremities. The intelligence of the patients was slightly above normal. The psychological analysis revealed significant diverging features compared with average population in testing situation. Socially the patients seemed to cope well.

Adolescent↗
PubMedDate not supplied

Talectomy in arthrogryposis: analysis of results.

Talectomy is recommended as a primary or salvage procedure for management of rigid or recurrent equinovarus deformity in arthrogryposis. Twenty-one feet (11 children) that had undergone talectomy were reviewed at a mean follow-up of 11.1 years (range, 2-24). Fourteen (73.7%) feet were satisfactory at final review, whereas five (26.3%) had an unsatisfactory result. Attention to technical details and accurate positioning of calcaneus in the ankle mortise are the two important prerequisites to guarantee a satisfactory long-term result. Fusion of the tibiocalcaneal articulation in optimal position, either spontaneous or induced, is a favorable sign, as it ensures lasting correction of the deformity. The role of a tight and fibrotic tibialis anterior in causing recurrence of severe forefoot adduction and supination is discussed.

Arthrogryposis↗
PubMed1997

Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.

We describe a small, term, male infant with corticospinal tract aplasia secondary to motor cortex dysplasia from a neuronal proliferation and/or migrational defect. The infant also had microdolichocephaly, sloping forehead, hypertelorism, flat nose, apparently low-set ears, micrognathia, arthrogryposis without muscle wasting, cortical thumbs, rocker-bottom feet, scoliosis, single umbilical artery, and hypospadias with chordee. Oligohydramnios was present prenatally. Neurologic examination showed a comatose state, seizures, minimal spontaneous movement, minimal response to pain, and absent primitive reflexes. At autopsy, hypoplasia of kidneys and adrenal glands was found. There was no aqueductal stenosis or pulmonary hypoplasia. Chromosomes were apparently normal. These manifestations do not correspond to those of any recognized syndrome; therefore, this patient may represent a previously undefined syndrome.

Abnormalities, Multiple↗
PubMed1998

Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.

We present the first report of chromosomal rearrangement involving chromosomes 4, 10 and 12. The proband was a 42-year-old woman with severe mental retardation and multiple congenital anomalies. The most striking physical anomalies were upper limb contractures resulting in distal arthrogryposis. As upper limb flexion contractures have been previously reported in individuals with partial distal 10q deletion, this sign should be considered as part of the clinical manifestations of 10q25-->qter monosomy.

Abnormalities, Multiple↗
PubMed2005

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) is a rare cause of cholestasis in infants. Causative mutations in VPS33B, a gene that encodes a Class C vacuolar sorting protein, have recently been reported in individuals with ARC. We have identified a zebrafish vps33b-ortholog that is expressed in developing liver and intestine. Knockdown of vps33b causes bile duct paucity and impairs intestinal lipid absorption, thus phenocopying digestive defects characteristic of ARC. By contrast, neither motor axon nor kidney epithelial defects typically seen in ARC could be identified in vps33b-deficient larvae. Biliary defects in vps33b-deficient zebrafish larvae closely resemble the bile duct paucity associated with knockdown of the onecut transcription factor hnf6. Consistent with this, reduced vps33b expression was evident in hnf6-deficient larvae and in larvae with mutation of vhnf1, a downstream target of hnf6. Zebrafish vhnf1, but not hnf6, increases vps33b expression in zebrafish embryos and in mammalian liver cells. Electrophoretic mobility shift assays suggest that this regulation occurs through direct binding of vHnf1 to the vps33b promoter. These findings identify vps33b as a novel downstream target gene of the hnf6/vhnf1 pathway that regulates bile duct development in zebrafish. Furthermore, they show that tissue-specific roles for genes that regulate trafficking of intracellular proteins have been modified during vertebrate evolution.

Animals↗