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PubMedDate not supplied

Calcaneocuboid fusion in children undergoing talectomy.

The aim of management of the child with a severe, rigid equinovarus foot is to provide a foot that is plantigrade and painless and can be placed within standard footwear. The authors identified a retrospective cohort of 17 children with a mean age at surgery of 5.6 years (range 2.3-9.6 years) who underwent 31 talectomy procedures for the management of their rigid, equinovarus foot deformities (14 isolated talectomies, 17 combined talectomy and calcaneocuboid fusions). The underlying diagnosis was predominantly arthrogryposis. The average follow-up was 9.7 years (range 2.3-9.5 years) and 3.8 years (range 2.8-9.6 years) respectively. The addition of calcaneocuboid fusion prevented the development of postoperative equinus, varus, adductus, and supination deformities as determined by clinical examination at medium-term follow-up (P = 0.01, P < 0.001, P < 0.001, P < 0.001, P < 0.01, respectively). This was associated with a decreased incidence of recurrent foot pain with weightbearing (P < 0.001) and a reduced need for revision surgery for pain or deformity (P < 0.001). This study determined that the addition of a concomitant calcaneocuboid fusion in the setting of talectomy may improve the medium-term surgical outcome.

Arthrogryposis↗
PubMed2003

Surgical management of the hand in Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome is a rare form of distal arthrogryposis characterized by craniofacial anomalies, a rheumatoid-appearing hand, and pedal deformities. The hand deformities include ulnar deviation of the fingers, camptodactyly, first web space contracture, and hypoplasia of the thumb. Because of clinical variability and rarity, there is no standard management protocol. The authors have developed a systematic method of management of the hand in Freeman-Sheldon syndrome using principles commonly applied to other complex hand problems. In 17 years, the authors have evaluated nine patients. Of 18 hands evaluated, the authors have operated on 15. Good results were achieved in five hands and fair results in 10. There were no cases of useless hands. The authors have been most pleased with the results after crossed intrinsic transfers, centralization of extensor tendons, and intrinsic release of the thumb. Although physical deformities remain, functional adaptation is generally good.

Abnormalities, Multiple↗
PubMed2005

Radical soft-tissue release of the arthrogrypotic clubfoot.

The purpose of this study was to evaluate the results of primary radical soft-tissue release of arthrogrypotic clubfeet in children less than 1 year of age. We performed a retrospective review of six patients (12 feet) who underwent radical release of clubfoot deformity. Primary surgery was performed at an average of 7.4 months and the average follow-up was 4.3 years. We graded our results using a modified functional clubfoot rating system. We had two excellent, four good, three fair and three poor results. Revision surgery was performed on one foot for residual equinus. All patients ambulated independently with orthoses. Our short-term results with primary radical release of clubfoot deformity in arthrogryposis in infants under 1 year of age have been very encouraging. Correction of hindfoot equinus is excellent, and the recurrence rate remains low. Salvage talectomy has not been necessary in this population of children.

Arthrogryposis↗
PubMed1984

Management of the resistant myelodysplastic or arthrogrypotic clubfoot with the Verebelyi-Ogston procedure.

The Verebelyi-Ogston (V-O) procedure, consisting of subchrondral excision of the talus and cuboid, was used for the treatment of 13 resistant clubfeet secondary to myelomeningocele or arthrogryposis. Nine feet were initially satisfactory, but the condition recurred in both feet of one patient after bracing was discontinued 3 years postoperatively. Three feet were graded as satisfactory after a second V-O procedure, and one after a third. The procedure must be monitored by intraoperative fluoroscopy or radiography, and followed by orthotic support. Despite the theoretical long-term disadvantage of incongruent joint surfaces, we consider the V-O procedure to be a good method for the treatment of this subset of rigid neuropathic clubfeet.

Arthrogryposis↗
PubMedDate not supplied

Femoral shortening in correction of congenital knee flexion deformity with popliteal webbing.

Severe knee flexion deformity with popliteal webbing or pterygium is considered to be uncorrectable. The soft tissues and, in particular, the main nerves and vessels are short relative to the bone. Femoral shortening was used in correction of such a deformity in a child with arthrogryposis. The operative procedure is described. Femoral shortening should be considered as an aid to correction of any severe knee flexion deformity.

Arthrogryposis↗
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↗
PubMed2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss-of-function (LOF) variants in PIP5K1C, reported in only two families to date. It typically presents with severe fetal akinesia, arthrogryposis multiplex congenita, and perinatal lethality due to respiratory insufficiency case. Herein, we report a new case with survival beyond birth. Prenatal findings included clubfeet with preserved amniotic fluid volume and fetal movements. The infant was delivered by cesarean section at 37&#x2009;+&#x2009;7&#x2009;weeks following breech presentation and developed respiratory distress requiring 14&#x2009;days of ventilatory support. Physical examination revealed bilateral talipes equinovarus, flexion contractures of the knees, restricted hip mobility, clenched hands with flexion contractures of the third and fourth fingers, and hyperextension of the second and fifth fingers. Neurologically, he had encephalopathy, profound hypotonia with a frog posture, and abnormal neonatal reflexes with a discontinuous background pattern on cerebral function monitoring. Additional observed features were bilateral optic atrophy and hyperinsulinemic hypoglycemia responsive to Diazoxide. Trio genome sequencing identified a homozygous pathogenic splice-site variant in PIP5K1C (c.1127+1G>A, NM_012398.3). The infant died at 6&#x2009;months from multisystemic failure. Further studies are warranted to elucidate the pathomechanisms underlying the PIP5K1C defect and its phenotypic consequences.

LCCS3↗
PubMed1996

Proliferation and teratogenicity of Aino virus in chick embryos.

Aino virus (AIV; JaNAr 28 strain) 10(3) TCID50/0.2 ml was inoculated in the yolk sac of 8-day-old chick embryos. Recovery and titration of the virus from various organs including the central nervous system (CNS) and skeletal muscle were performed at 2, 4, 7, 10 and 13 days after inoculation (PI). AIV was systematically disseminated and proliferated even 2 days PI. The titers of the recovered virus from the CNS and from skeletal muscle was the highest at 4 days PI and declined with time, whereas hydranencephaly, arthrogryposis and cerebellar hypoplasia developed at 7 days PI and gradually progressed until 13 days PI.

Animals↗
PubMed1996

Biliary malformation with renal tubular insufficiency in two male infants: third family report.

We report two male sibs, born to non-consanguineous healthy parents, who showed arthrogryposis, cholestatic jaundice and tubular renal insufficiency. The liver biopsy of the first case showed scanty hypoplastic biliary ducts. This association, first reported by Lutz and Richner in 1973, is a distinct syndrome, characterized by intra-extrahepatic biliary hypoplasia, and described in McKusick's catalogue under the number 210550. All reported cases were males and consanguinity was found in two families. For these reasons, the possibility of an autosomal recessive or of an X-linked transmission should be considered. A similar association, in reports by Nezelof, Di Rocco, and Saraiva, without intra-extrahepatic atresia but with a cholestatic pigmentary liver disease was considered as another condition (no. 301820) by McKusick in 1992.

Abnormalities, Multiple↗
PubMed2004

Liver biopsy complicated by hemorrhage in a patient with ARC syndrome.

ARC syndrome is a rare disorder consisting of arthrogryposis, renal tubular acidosis and cholestatic liver disease. We report the case of a 5-week-old patient who underwent a percutaneous liver biopsy complicated by hemorrhage, and was subsequently diagnosed with ARC syndrome. A review of the literature demonstrates that these patients are at increased risk of bleeding caused by platelet dysfunction. The evaluation and management of unexpected hemorrhage in pediatric patients as a result of undiagnosed congenital bleeding problems is discussed.

Abnormalities, Multiple↗
PubMed1993

An outbreak of Akabane virus-induced abnormalities in calves after agistment in an endemic region.

During 1988, 2 farmers in the Bega district agisted pregnant cattle in the Hunter Valley of New South Wales. On return to the district to calve, 54% of calves from herd 1 and 30% of calves from herd 2 were affected with congenital arthrogryposis or hydranencephaly caused by Akabane virus infection. Field observations and laboratory findings from this outbreak are presented, illustrating the danger of moving immunologically naive animals into areas where Akabane virus is endemic.

Animals↗
PubMedDate not supplied

The use of vacuum-molded polyvinyl acetate-polyethylene copolymer (PVAC.PE) for a handicapped patient.

This paper provides a survey of recent literature on the use of mouth sticks for patients who have little or no use of their limbs. Criteria for mouth stick design, types of appliances, and the fabrication of such devices are described. Details are given of a case of a young child with arthrogryposis multiplex congenita, in whom a novel approach was used to allow the safe intra-oral retention of writing implements.

Arthrogryposis↗
PubMed1986

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

Adult↗
PubMed1988

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.

Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital torticollis, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate. Malignant hyperthermia has occurred in two of the patients.

Abnormalities, Multiple↗
PubMed1990

Restrictive dermopathy: a report of three cases.

We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal collagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.

Arthrogryposis↗
PubMed1994

Lethal congenital contracture syndrome: further delineation and genetic aspects.

In a national morphology based study of lethal arthrogryposis between 1979 and 1992, 40 fetuses and infants with lethal congenital contracture syndrome (LCCS, McKusick 253310) were found in Finland. The incidence of LCCS in Finland was 1:19,000 births. There were 20 affected males and 20 affected females in 26 families. In 16 cases the pregnancy was terminated after the prenatal diagnosis of total akinesia and fetal hydrops on ultrasound. There were 19 stillborn infants and five were born showing signs of life, but died within one hour. The segregation analyses yielded 0.45 affected by the "singles" method and 0.34 by the "sib" method. The birthplaces of the grandparents were located in the sparsely populated north east of Finland. This finding supports the existence of an autosomal recessive LCCS gene in Finland, particularly in the north eastern part.

Abortion, Induced↗
PubMed1993

Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs.

Adult↗