introduction arthrogryposis multiplex congenita (amc) with incidence of 1 in 3000 of births is characterized by multiple rigid joint and soft-tissue contractures. case presentation we present a case of amc with severe soft tissue and joints contractures, especially joints of lower limb and elbows, bilateral complete dislocation of hips (cdh) and knees (cdk) (type iii), bilateral elbow joint dis...

Arthrogryposis (multiple congenital joint contractures) is an uncommon problem. Because there are many causes, correct diagnosis is important to predict the natural history and determine appropriate treatment. Inconsistent terminology has caused confusion about both diagnosis and treatment. Amyoplasia, the most common type of arthrogryposis, is characterized by quadrimelic involvement and repla...

A family is described in which a hereditary peripheral neuropathy occurs, inherited as an autosomal dominant character. The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present. The condition appears to be intermediary between peroneal muscular atrophy...

BACKGROUND Flexion of one elbow is essential to enable children with arthrogryposis to achieve independent function such as self-feeding and self-care of the face and hair. We analyzed the outcomes of posterior elbow capsulotomy with triceps lengthening for the treatment of elbow extension contractures in a series of children with arthrogryposis multiplex congenita. METHODS The medical record...

Arthrogryposis multiplex congenita (amyoplasia congenita) is an infrequent cause of’ severe crippling. Although it is often possible to alleviate tile grave disability which it cOtllrflOtlly causes, its rarity impedes the accumulation of enough clinical experience to establish guiditig principles and indications for surgical treatment. We have been able to examine fifty-two patients with this d...

INTRODUCTION A boy presented with arthrogryposis multiplex congenita (AMC) associated with severe central nervous system dysfunction. The clinical history and the distinctive radiographic/tomographic features were consistent but not completely diagnostic for dysosteosclerosis. CASE PRESENTATION A 5-year-old boy from a consanguineous family in Austria was born with arthrogryposis multiplex con...

Introduction: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently attributed to mutation in VPS33B, whose product acts in intracellular trafficking. It shows wide clinical variability. The characteristic features of ARC core phenotype include arthrogryposis, spillage of various substances in the urine, and conjugated hy...

Arthrogryposis is a clinical description of a phenotype caused by fetal immobility. More than 150 conditions presenting with congenital arthrogryposis are known. Prenatally lethal cases of arthrogryposis present a diagnostic challenge although they are more frequently encountered due to improved ultrasound methods. Post-mortem diagnostics is often hampered by fetal maseration. Therefore, accura...