arthrogryposis hip

OBJECTIVE: PemberSal osteotomy to improve femoral head coverage by rotating the acetabular roof ventrally and laterally. INDICATIONS: Insufficient coverage of the femoral head, and can be combined with other surgical procedures such as femoral intertrochanteric varus-derotation osteotomy and open reduction for developmental dysplasia and dislocation of the hip or to improve sphericity and containment in Legg-Calvé-Perthes disease. This specific acetabuloplasty can only be performed in patients with an open epiphyseal growth-plate...

OBJECTIVE: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN: Retrospective case series study. SETTING: Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS: Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic...

The aim of this study was to report the results of early open reduction of hip dislocations in infants with arthrogryposis multiplex congenita. Seven patients who were under 6 months of age at the time of hip reduction, with a mean follow-up period of 47.5±11.3 months after surgery, were included in this study. Four of seven patients (six of 13 hips) required additional hip surgeries during their follow-up. The short-term results of early open reduction of hips were not promising as most of the patients required additional hip surgeries...

ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral developmental dislocation of hip, while further studies showed renal tubular acidosis and hearing impairment in addition to cholestasis...

The authors present a case of bilateral total hip replacements (THRs) in a 56-year-old patient with arthrogryposis multiplex congenita (AMC). The considerations for the perioperative period and the outcome are discussed. Preoperative planning included an anaesthetic review and availability of fiberoptic intubation due to poor mouth opening. Perioperatively, contractures can make positioning and exposure difficult but in this case a standard posterior approach was taken. Particular attention was given to soft tissue balancing given the theoretical risk of dislocation...

INTRODUCTION: Arthrogryposis is a condition existing at birth, seen in different diseases that have in common the existence of multiple joint stiffness. The clinical presentation is diversified and the functional prognosis depends on the etiology, which makes therapeutic options different from one case to another. The objective of this study was to describe clinical manifestations observed in arthrogrypotic patients and show the different therapeutic methods and functional results. METHODS: This was a retrospective study over a period of 12 years from 2000 to 2012, based on clinical examinations of 23 patients with arthrogryposis...

BACKGROUND: Exstrophy of the bladder is a rare congenital defect seen in 2.15 children out of every 100,000 live births, with the most severe variant, cloacal exstrophy (CE), only occurring in 1 in 200,000. Developmental dysplasia of the hip (DDH) describes a spectrum of disease ranging from mild hip instability to frank dislocation. Underlying malformations, such as myelomeningocele and arthrogryposis, are often associated with the most severe variant of hip dysplasia, teratologic hip dislocation...

BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). Mutations in components of the acetylcholine receptor (AChR) pathway have previously been associated with FADS. METHODS AND RESULTS: We report on a family with recurrent fetal loss, where the parents had five affected fetuses/children with FADS and one healthy child...

Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning, sucking and swallowing) and hiccups by ten weeks of gestational age. There are two key biomechanical aspects to gross foetal movements; the first being that the foetus moves in a dynamically changing constrained physical environment in which the freedom to move becomes increasingly restricted with increasing foetal size and decreasing amniotic fluid...

Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one of its cargo adaptors, BICD2...

OBJECTIVE: Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion. METHODS: Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered...

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a multiple joint condition which affects both lower and upper extremities and thus affects ambulation. Multiple surgeries are needed to correct limb deformity in order to promote walking. The objective of this study is to identify the most critical residual deformity that diminishes the ambulatory status. MATERIALS AND METHODS: 51 patients were included in this study, 14 patients were nonambulatory. The mean age at first surgery was 4...

Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the ECEL1 gene...

Arthrogryposis multiplex congenita (AMC) is a complex disorder that leads to joint stiffness and deformities in 2 or more joints in afflicted children. Late manifestations of this disorder can include secondary degeneration of the abnormal joints with arthritic symptoms of pain and loss of function. There are few reports in the orthopedic literature on the use of total joint arthroplasty to improve the pain and function in patients with arthrogryposis. This case report presents one patient who underwent bilateral total hip and total knee arthroplasties for deteriorating function and pain in her hips and knees secondary to the congenital deformities created by arthrogryposis multiplex congenita...

Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis...

Ipsilateral trunk lean toward the affected stance limb has been identified as a compensatory mechanism to unload the hip joint. However, this altered gait pattern increases the lever arm around the knee joint by shifting the ground reaction vector more lateral to the knee joint center, which could be sufficient to deform the lateral compartment of the knee. The purpose of the present study was to show the effect of ipsilateral trunk lean on hip and knee joint moments in the frontal plane in 132 young patients with different orthopedic diagnosis...

INTRODUCTION: Studies of gait dynamics revealed the complex motions that the knee must undergo in sync with the hip and ankle, in both the swing and support phase of walking. If these motions are restricted, usually as a consequence of cerebral palsy or arthrogryposis, normal gait is hindered; the patient may be able to walk for very short distances or, eventually, not at all. Children with knee extension limited by 10 - 30 degrees,especially those with cerebral palsy, exhibit a stance compatible with walking...

BACKGROUND: Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is estimated at 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis is multifactorial. CASE PRESENTATION: We report first 26 weeks of life of a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment a visible improvement in the range of motion as well as the functionality of the child was achieved...

The aim was to investigate the causes for pathological trunk movements during gait in children with Amyoplasia. Eighteen children with Amyoplasia were compared with 18 typically developed children. Three-dimensional motions of pelvis, thorax and spine during gait were analyzed. Excessive trunk movements were defined as being above 4 standard deviations of those of typically developed children. Clinical examination of active strength and passive range of motion of the hip, knee and ankle joints were correlated to the parameter that showed the greatest prevalence of pathological trunk motion...

OBJECTIVE: To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene-related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients. METHODS: Eleven patients evaluated in the neonatal period with severe neonatal-onset RYR1-associated myopathy confirmed by genetic testing were ascertained. Clinical features, molecular testing results, muscle imaging, and muscle histology are reviewed...