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At least 19 recordsLinked to original sources

Tibiofibular synostosis and recurrent ankle sprains in high performance athletes.

Recent evidence points toward a weight bearing and dynamic stabilizing function of the distal fibula in ankle joint mechanics. When fibular rotation and translation are restricted, ankle pain during weight bearing and push off often (but not always) results. The case histories of six professional athletes with distal tibial synostosis resulting from internal rotation-inversion injury confirm recent reports of ankle disability resulting from restriction of fibular motion, but suggest that there may be many patients with this lesion who are not disabled. Two patients with incomplete synostosis were asymptomatic, and one with complete synostosis had only occasional pain after vigorous exercise.

Adult

Congenital radio-ulnar synostosis: surgical treatment.

The results of an operative approach to the problem of radio-ulnar synostosis were assessed in thirteen patients, ten to twenty-five and one-half years after the procedure was performed. We concluded that in a patient with bilateral synostosis one hand, the one not used in writing, should be shifted to a position of 20 to 35 degrees of supination. With one hand in this position, the other may be left in considerable pronation. Often after such a shift it is not necessary to rotate the second arm. However, if the pronation is marked in the second forearm, and if function is impaired unduly by this position, surgical correction is indicated. The arm should be placed in a position of 30 to 45 degrees of pronation. In unilateral radio-unlar synostosis, the ordinarily ideal position of the radius is between 10 and 20 degrees of supination. In an adult, the patient's occupation should be considered in deciding on the rotatory positions of the forearms. We usually prefer a method of transverse osteotomy through the conjoined mass of the radius and ulna. Careful observation of the effect on the vascular status of the limb during and immediately after surgery is important.

Adolescent

Congenital radio-humeral synostosis. A case report.

In a 7-month-old male infant with congenital radiohumeral synostosis and associated absent first metacarpal, floating thumb, and hypoplasia of the humerus, the synostosis was resected. Elbow motion was obtained and one year postoperatively there was no recurrence of the synostosis.

Abnormalities, Multiple

Proximal tibiofibular synostosis.

The occurrence of a proximal tibiofibular synostosis is indeed a rare condition with only 2 cases unassociated with other diseases reported to our knowledge to date. Two skeletally immature patients presented with a synostosis of the proximal tibiofibular region associated with shortening of the limb in the affected segments. Although the shortening and the synostosis seem interrelated no explanation of their relationship is evident from these 2 cases.

Child

[Congenital radio-ulnar synostosis of children (author's transl)].

29 congenital radio-ulnar synostosis have been observed in 16 childrens. The authors review the clinical patterns of this affection: most often bilateral, it results in impossibility of pronosupination of the wrist which has but little functional consequence, if the hand is in an intermediary position. On the X-ray its almost always a superior radio-ulnar synostosis but the inferior radio-ulnar joint is abnormal and non functional. Only the children severely handicapped by a hand fixed in pronation should be operated upon. No good result can be hoped from a surgery that tries to restore pro-supination. The best surgical technique seems to be a simple horizontal osteotomy through the synostosis itself which allows a derotation of the forearm into the functional intermediary position. Severe complications can occur. Indications and technique must be very careful since this congenital abnormality is very well tolerated.

Child

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

PURPOSE: FBN2, a high-confidence effector gene for osteoarthritis (OA), was investigated for its potential role in synostosis of joints (SJ) because several OA-related genes are known to cause SJ. METHODS: We analyzed variants in OA-related genes using exome sequencing data from Chinese-Han participants with radioulnar synostosis (RUS). Variants were classified following American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. Fbn2 knockout mice were generated via CRISPR/Cas9 and evaluated through radiological and histopathological analyses at multiple developmental stages, with complementary cellular and molecular studies. RESULTS: We identified 15 rare, damaging FBN2 variants in unrelated RUS families, including 7 likely pathogenic variants (4 null variants). Fbn2 knockout mice (both homozygous and heterozygous) exhibited SJ phenotypes. Unlike previously reported SJ mechanisms involving failed interzone formation, Fbn2-related SJ occurred after normal interzone formation. Mutant mice showed significant alterations in extracellular matrix composition and volume within articular surface cells. We proposed that these extracellular matrix changes mediated the transdifferentiation of articular surface cells into osteoblasts, which ultimately developed into bones over time. CONCLUSION: We identified FBN2 pathogenic variants that caused SJ in humans and mice. SJ caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Fibrillin-2

[The radiogical criteria of juvenile rheumatic cerivical synostosis in adults (author's transl)].

The radiological criteria of juvenile, rheumatic, cervical synostosis discovered in adult life are described and illustrated. These include: involvement of few or many segments, a tendency to bony ankylosis of the diseased intervertebral joints, dysplasias or hypoplasia of the vertebral body and intervertebral disc and dysplasias of the neural arches and hypoplasia of the transverse processes. Pathological ossification may involve the ligamentum flavum, the annulus, or the entire disc. The differential diagnosis of juvenile, rheumatic, cervical synostosis includes congenital block vertebrae, Klippel-Feil syndrome, acquired block vertebrae, juvenile ankylosing spondylitis, synostosing, intervertebral osteochondrosis and myositis ossificans progressiva.

Adolescent

[Familial congenital radio-ulnar synostosis (author's transl)].

Radio-ulnar synostosis is a congenital bony union between radius and ulna, usually in the vicinity of the radial tuberosity. A family is described on whom this anomaly was inherited over three generations. The rare cases described in the literature were usually bilateral, in our family it was unilateral. The following aspects are discussed: the frequency of this condition, the anatomical localisation of the synostosis, their types, local soft tissue and other abnormalities, embrylogy and the hereditory pattern. Finally, methods of treatment are discussed briefly.

Aorta, Thoracic

Post-traumatic radio-ulnar synostosis.

Five years after an untreated ulnar fracture, a young man seen with no active or passive forearm rotation was found to have a radio-ulnar synostosis, which was surgically excised with interposition of a silicone membrane and soft tissue to decrease any tendency for new formation of the synostosis.

Adult

Familial radioulnar synostosis.

A family with proximal radioulnar synostosis segregating in three generations is described. Familial radioulnar synostosis is a rare anomaly; however, the sporadic form is a frequent feature in cases of sex chromosome abnormalities and other syndromes. This disorder has been reported in several ethnic groups, but this is apparently the first example from the black population.

Black People

[Mineral saturation, ossification and synostosis of the hand bones in adolescents and youth].

The results on X-ray densitometric studies of the hand bones in adolescent and young people at the age of 10--17 years (369 persons in all) are presented in the work. Processes of mineralization, ossification and synostosis, as the investigation has demonstrated, are closely connected with each other. From the beginning of ossification in the pisiform and sesamoid bones of the first metacarpophalageal joint (11--12 years of age) up to the completion of synostosis in short tubular bones of the hand (15--16 years of age), a decrease of mineral salts is noted in osseous tissue. Hence, accumulation of mineral salts in skeleton of children and adolescent persons does not occur smoothly, but rather distinctly reflects those functional changes which take place in the adolescent organism when the genital glands begin their increased activity.

Absorptiometry, Photon

Immediate correction of sagittal synostosis.

A technique for correction of sagittal synostosis with achievement of an immediately pleasing cosmetic result is presented. Even with replacement of bone and no attempt to inhibit bone union, premature reclosure does not occur. Moss' theory of dural tensions is discussed to explain the effect.

Humans

Tibiofibular synostosis: a cause of ankle disability.

A syndrome of ankle pain on weight-bearing while running due to post-traumatic ossification of the tibiofibular ligament is described. Pain is caused by failure of normal downward and lateral motion of the fibula. Treatment consists of complete excision of the synostosis, followed by cast immobilization for 3 weeks.

Adult

A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis.

A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip/palate is discussed in relation to genetic counselling and recurrent risk estimates.

Abnormalities, Multiple