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Results for “Joint synostosis”

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At least 19 recordsLinked to original sources
PubMed2025

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↗
PubMed1976

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1975

[Ball and socket ankle joint and tarsal synostosis (author's transl)].

Ball and socket ankle joints in 4 patients with "tarsal coalition" have first been described by Lamb and later by others. This report deals with a further case. The boy with a congenitally short left leg and absence of the lateral two toes was seen at the age of 4 months. He was again seen at 11 years of age after a sprain of the right ankle. Roentgen-examination showed calcaneotarsal synostosis and a ball and socket ankle joint with a fatigue fracture of the lateral metatarsal. The shape of the ankle joint appears to be part of a non-inheritable congenital defect with early embryonal disturbance of cleft formation in the tarsus.

Abnormalities, Multiple↗
PubMed1975

[Sterno-costo-clavicular hyperostosis: a hitherto undescribed entity (author's transl)].

Persistent pulling pain in the sternum, clavicles and both first ribs, especially during cold and wet weather, necessitated medical investigations and treatment in 3 patients. Externally a cylindrical or spindle-shaped swelling of the clavicles was noticeable and two patients had signs of superior caval obstruction in addition. X-rays showed hyperostosis of the sternal and middle part of the clavicle, synostosis of the sternoclavicular joints with involvement of the two first ribs as well as a thickening and increase in breadth of the sternum. In one patient there were additional swellings of the first to fourth ribs bilaterally. During the period of observation there was no radiological progression of the bone disease. Apart from a consistently raised erythrocyte sedimentation rate blood chemistry was normal. The sterno-costo-clavicular hyperostosis led to bilateral occlusion of the subclavian veins with resulting upper venous congestion in two patients. Histology of the biopsy samples showed a characteristic hyperostotic spongiosclerosis in all three cases. The cause of this sterno-costo-clavicular hyperostosis is unknown. Clinical, radiological and histological findings indicate that it is a uniform disease which has not previously been described.

Biopsy↗
PubMed1978

[Familial mesomelial dwarfism (Nievergelt syndrome)].

Familial mesomelic dwarfism was first described in 1944 by K. NIEVERGELT, who reported on a father and 3 sons by 3 different mothers who had shortening of the middle segment limbs. in the present study the family described by NIEVERGELT in 1944 is reevaluated and the mode of inheritance investigated over a period of 3 generations. Six patients with mesomelic dwarfism were found out of 43 family members. Two patients, a son of the first patient with mesomelic dwarfism and his son, were seen at our institution. Both presented a rare deformity-combination of the upper and lower extremities. In the upper extremities radio-ulnar synostosis, asymmetrically shaped elbow joints, subluxations of the radial head and a deficient supination capacity of the forearm were diagnosed. The deformities were nearly symmetrical, but a slight predilection for the left forearm was noted. In the lower extremities atypical club-feet with supination of the forefeet, shortening of tibia and fibula and marked synostosis of tarsal and metatarsal bones were seen. The legs were rhombic and supination and pronation of the forefeet were severely reduced. Synostosis of the tibia and fibula and deformities of the toes were found in both patients. The mode of inheritance was considered to be autosomal dominant with high penetrance. It is concluded that familial mesomelic dwarfism is an autosomal dominant disease of the upper and lower limbs with atypical club-feet, marked radio-ulnar, tibia-fibular and tarsal synostosis and deformities of the elbow joints.

Chromosome Aberrations↗
PubMed1977

Sternocostoclavicular hyperostosis: painful swelling of the sternum, clavicles, and upper ribs. Report of two new cases.

Five patients had persistent, pulling pain in the sternum, clavicles, and upper ribs that was exacerbated by cold and dampness. Clublike, symmetrical enlargement of the clavicles was seen and, in two patients, venous congestion of the upper half of the body. All patients had a constantly elevated erythrocyte sedimentation rate. Radiologically there was symmetrical hyperostosis of the sternal and middle portions of the clavicles, synostosis of the sternoclavicular joints, a widened and thickened sternum, and varying degrees of involvement of the upper ribs. X-ray findings did not change over several years. Phlebography showed bilateral subclavian vein occlusion in three patients and unilateral occlusion in one. Biopsies of the clavicles showed a characteristic hyperostotic sclerosis of the spongiosa. The cause of this sternocostoclavicular hyperostosis is unknown, but clinical, radiologic, and histologic findings indicate that it may represent a distinct, hitherto undescribed entity.

Aged↗
PubMed1978

Congenital synostosis of the knee.

Three congenital synostoses of the knee occurred in 2 patients. Complete bony epiphyseal fusion was present on the radiographs. This condition is a failure of joint formation in the early mesenchymal stage at 4--5 weeks gestation and appears as connected cartilaginous cell masses which later ossify. Involvement of other joints has been reported in the literature, but these may be the first documented cases of the condition in knee joints.

Child↗
PubMedDate not supplied

[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↗
PubMed1979

The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.

We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero-ulnar and femoro-tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.

Adolescent↗
PubMed1977

Congenital malformation of the feet with low body height. A new syndrome, caused by an autosomal dominant gene.

Among 75 members of a Danish family, 12 were found with a syndrome not previously described. Clinically, the syndrome consists of low body height and rigid flat feet, with weight-bearing pain in the feet. Radiologically, the deformation of the feet is a medial synostosis between the talus and the calcaneus combined with ankle joint dysplasia. The cause of the syndrome is most probably an autosomal dominant gene with complete penetrance. No linkage was found of the gene to 18 marker genes.

Adult↗
PubMed1979

[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↗
PubMedDate not supplied

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↗
PubMed1975

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↗
PubMed1979

[A case report: pseudarthrosis of the os lunato-triquetrum?].

The reported case is in its development, diagnostic, course, and legal aspect so extraordinary, that an explicit report is justified. The patient complained of pain in his right wrist region some days following an unusual work with a drilling machine for eight days. The X-rays six months later showed an irregular joint space between the lunate and triquetrum bone, while on his left wrist a synostosis between these bones was found. These changes seemed to be suspicious for a pseudarthrosis of a congenital synostosis, but this diagnosis led to a six years' controversy in several legal procedures. The different interpretations (judgements) by the attending doctors, specialists, and judicial experts, show again the importance of an exact early documentation with sufficient primary X-rays, eventually with comparison of the other hand. During treatment, nothing should be left undone which could support or refute especially an unusual diagnosis.

Adult↗