نتایج جستجو برای: arthrogryposis
تعداد نتایج: 1172 فیلتر نتایج به سال:
Arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. This report describes congenital arthrogryposis associated with musculoskeletal defect...
arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. this report describes congenital arthrogryposis associated with musculoskeletal defect...
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. ...
DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
Arthrogryposis or arthrogryposis multiplex congenital (AMC) comprises non-progressive conditions characterized by multiple joint contractures found throughout the body at birth. During this case study the calf borne with arthrogryposis was dead during distocic delivery. The arthrogrypotic calf had varying expressions of the defect with all 4 limbs (tetramelic) affected and curvature and multipl...
We have presented a case of a 22-year-old patient having a rare variety of arthrogryposis multiplex congenita arthrogryposis with epileptic seizures and defect in neural migration. We have described the patient’s disease history, the clinical, and laboratory data by giving prominence to the lack of mental retardation and the late onset of the generalized tonic-clonic seizures, despite the prese...
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome is a rare multisystem disorder, originally described in 1973 and to date only 62 patients have been reported. Herein, we reported on a neonate with arthrogryposis-renal tubular dysfunction-cholestasis syndrome presenting very early after birth. Recurrent febrile illnesses, failure to thrive, ichthyosis, hypothyroidism, and bilateral ...
Arthrogryposis Multiplex Congenita is a condition characterized by multiple contractures of the joints. Involvement of the temporomandibular joint is a common complication that limits mandibular opening. A case of Arthrogryposis Multiplex Congenita with anterior open bite and limited maximal incisal opening is presented. Orthognathic surgery, consisting of segmental LeFort I osteotomy and bilat...
OBJECTIVE Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULT...
BACKGROUND Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the c...
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