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At least 19 recordsLinked to original sources
PubMedDate not supplied

Bilateral traumatic dislocation of the distal radioulnar joint, ulna dorsal: case report and review of the literature.

Bilateral dislocation of the distal radioulnar joint seems not to have been reported in the literature. This is a report of a 22-year-old man successfully treated with closed reduction and immobilization in long arm casts. Limited forearm rotation and wrist pain after a twisting injury are typical findings. In ulna dorsal dislocation the patient's forearm is locked in pronation. In ulna volar dislocation the wrist appears narrow and the forearm is locked in supination. The mechanism of injury for dorsal dislocations is hyperpronation; for volar dislocations it is hypersupination. Dislocation of the distal radioulnar joint injures the triangular disk and/or fractures the ulnar styloid. Suspicion is important in making the diagnosis. Fifty per cent of unilateral cases reported in the literature were missed initially or were diagnosed late. The acute case is easily treated by closed reduction under local anesthesia and immobilization in a long arm cast. Treatment of the chronic dislocation includes various soft tissue reconstructions or resection of the distal ulna depending on the degree of arthrosis.

Adult↗
PubMed1978

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↗
PubMedDate not supplied

A study of radioulnar movements following fractures of the forearm in children.

The range of radioulnar movements, following fractures of the forearm bones treated conservatively in 53 children under the age of 15 years, was measured by a goniometer. The most common age group was 6-10 years. All fractures united within 8 weeks and the average follow-up was 3 years. Although subjective assessment of the result was good in all cases, 52.8% had some limitation of rotational movements. The factors which limited rotation were angulatory deformity of the bones, rotational malalignment or injury to the inferior radioulnar joint. An angulatory deformity of more than 10 degrees in a child above the age of 10 years failed to remodel adequately with growth particularly if the fracture was in the proximal half of the forearm. Rotational malalignment also did not correct with growth.

Adolescent↗
PubMed1979

A modified posterolateral approach to the elbow and proximal radioulnar joints.

A modified posterolateral approach is useful for extensive exposure of the elbow and proximal radioulnar joints. The patient is placed prone and the elbow flexed over a padded support: a pneumatic tourniquet is placed proximally on the arm. The laterally curved skin incision extends from the center of the posterior surface of the arm, at the upper limit of the triceps tendon, to the back of the lateral epicondyle and thence to the posterior border of the ulna 3 finger-breadths distal to the tip of the olecranon. The large medial and smaller lateral flaps are secured with sutures. The ulnar nerve is exposed and protected. A distally based tongue of triceps tendon is fashioned and retracted downwards. The anconeus is separated from the extensor carpi ulnaris muscle and retracted medially with the underlying capsule. The common extensor origin and the lateral collateral ligament, with the adjacent capsule, are partially reflected from the humerus. Excellent exposure of the elbow and proximal radioulnar joints is easily achieved and visualization can be increased by putting a varus strain on the elbow.

Elbow Joint↗
PubMed1976

[Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges ("cenani syndactylism") (author's transl)].

An additional case "Cenani syndactylism" in a 7 years-old female child was described. With this autosomal recessive inherited disease, the radius and ulna are severly shortened and generally fused with each other. The metacarpal bones are, for the most part, synostosized. The phalanges are badly disorganized. Usually no fingers can be recognized externally. The alterations in the feet are far less pronounced. Syndactylism and ray reduction are frequent. A similar, but apparently independent, case with radioulnar synstostoses, reduction, dysplasia and fusion of the metacarpal bones but less pronounced malformations of the fingers was also described. Finally, new type of malformation was present for comparison in which an increased number of metacarpi and metatarsi and, to some extent, severely disorganized phalanges with massive syndactylism are present. The etiology of the second and third cases could not be explained.

Adult↗
PubMed1979

Dislocation of the distal radioulnar joint: anatomy and clues to prompt diagnosis.

The articular disk is a strong, complex structure responsible for the stability of the distal radioulnar joint. It is injured by a hyperpronation or hypersupination injury which disrupts the disk or its strong central attachment to the ulna. Prompt diagnosis is essential for a good result as no good late reconstruction is available. Reliance on radiographs for the diagnosis will seldom be rewarding, and they are mainly of value in ruling out associated fractures. A careful clinical examination and a high index of suspicion are the best tools available for diagnosis in this injury.

Female↗
PubMed1978

[New variant in the surgical treatment of diaphyseal fractures of the forearm bones combined with dislocation in the radioulnar articulation].

Better anatomical and functional results in the treatment of malunion, ununited fractures and pseudoarthrosis are gained through the combination of compression osteosynthesis with bone plasty and open reduction of the dislocated capitellum with the formation of the ligamental system. Resection of the dislocated capitellum leads mostly to the dysfunction and disability.

Adolescent↗
PubMed2026

Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.

SMAD6 encodes an inhibitory SMAD protein that modulates BMP and TGF-β signaling. Heterozygous pathogenic variants in SMAD6 have been primarily associated with aortic valve disease, radioulnar synostosis, and nonsyndromic sagittal and metopic synostosis. However, only two syndromic patients with biallelic variants have been reported in the literature. We report a 4-year-old girl with neurodevelopmental delays, dysmorphic features, complex congenital heart disease, renal asymmetry, and arterial tortuosity. Whole exome sequencing showed two homozygous SMAD6 variants of uncertain significance: c.161G>T (p.Gly54Val) and c.1A>G (p.Met1?). This is the third patient with biallelic SMAD6 variants associated with skeletal changes, more complex cardiovascular phenotype, facial dysmorphism, and novel arterial abnormalities. This suggests biallelic variants may cause a distinct and potentially more severe autosomal recessive syndrome. Functional investigation is needed to determine the molecular consequences of biallelic SMAD6 variants and to inform variant classification and mechanism. This report characterizes a potential unique genetic syndrome associated with biallelic SMAD6 variants, highlighting the importance of additional sequencing, vascular imaging, and multidisciplinary care coordination for these patients.

SMAD6↗
PubMed1977

Multiple childhood osteosarcomas in an American Indian family with erythroid macrocytosis and skeletal anomalies.

Three of nine children of possibly consanguineous American Indian parents developed typical osteosarcoma in a 2-year period. Etiologic investigations detected limb anomalies and elevated mean corpuscular volumes (98--109 micrometer3) in the surviving tumor patient, several of her sibs, and her father. Limb anomalies included simple clinodactyly with brachymesophalangy, absence of one digital ray of the foot, and bilateral radioulnar synostosis. The red cell macrocytosis was not accompanied by anemia or explained by the usual causes. No unusual environmental exposures were found and screening for possible oncogenic viruses by culture, electron microscopy, and serology was negative. All family members had elevated antibody titers to Epstein-Barr viral antigens. The proband and her father had excessive chromosomal breaks in the bone marrow. This unusual familial pattern of osseous malignancy and malformation and defective erythropoiesis, tentatively called OSLAM syndrome, may represent impaired regulation of bone development.

Adolescent↗
PubMed1979

Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.

Two sibs with a rare phenotype of oligodactyly with metacarpal, carpal, radioulnar, and metatarsal synostoses and shortening of the forearms were born of healthy parents. Genetic counselling with regard to future children of one of these sibs was given on the assumption of an autosomal recessive inheritance, which is highly probable, judging from the other rare familial cases found in the literature.

Adult↗
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↗
PubMed1979

The torture or stretch arthritis syndrome (a modern counterpart of the medieval 'manacles' and 'rack').

A characteristic symmetrical bilateral polyarthritis syndrome is described, affecting the compartements of the wrist joints in a characteristic sequence. The pisiform-triquetral joint gives first, exposing the inferior radioulnar joint so that pisiform pain and tenderness are followed by painful supination. The proximal radiocarpal joint slackens next, followed by the mid-carpal joints. The lunates subluxate as their posterior attachments stretch. Synovial oedema may produce additional median and ulnar carpal tunnel syndromes. The best radiologic sign of this distraction is anterior subluxation of the lunates. Nocturnal arthralgia becomes severe; grip and the ability to write are lost and stretching now shows as a traumatic arthritis in the clavicular joints. The patient is incapacitated and therfore progression halts. A history of excessive straining and lifting is obtained eg with a wheel-barrow, iron pots or strenuous rowing. All serologic tests for rheumatoid disease are negative. Serum uric acid levels and blood sedimentation rates remain normal. There are clear analogies with old descriptions of the effects of torture by stretching from manacles or gauntlets or by the rack.

Arthritis↗
PubMed1977

[Arthrography of the hand in an accident clinic (author's transl)].

By 115 arthrographies of the wrist in patients with posttraumatic pain, the importance of the method for diagnosis in injured patients is discussed. It was possible to detect 29 cases with a lesion of the articular disc, 4 patients with ruptured radiocarpal joint and 3 cases with an injury of the distal radioulnar joint. The technique of filling the wrist is described and different manifestations of "normal" arthrogramms are exhibited.

Accidents↗
PubMed1979

Long-term results of resection of the distal ulna for post-traumatic conditions.

Sixty-two patients underwent resection of the distal ulna because of pain or limited motion after wrist trauma. The median length of resection was 23 mm. Injury to the distal radioulnar joint occurred primarily during fractures of the distal radius. Followup time averaged 87 months. The primary surgical indication was pain, but some procedures were performed in an effort to increase motion. All patients improved after surgery. Three patients had residual pain, 25 had mild pain, and 34 had no pain. Supination was greatly improved, with only modest improvement in other wrist motions. Four patients developed ulnar translation of the carpus (from 1 to 3 mm). Pseudoarticulation and ulnar regrowth of the carpus were noted, but neither pseudoarticulation nor regrowth was clinically symptomatic. Grip strength improved significantly after surgery, the average from 45.3 to 78.9% of the unaffected wrist. The presence or absence of radiocarpal arthritis preoperatively had no significant effect on the patients' estimates of results. Overall, 51 patients (82%) had satisfactory results. The primary gains were pain relief, increased supination, and increased strength.

Adolescent↗
PubMed1979

Congenital pseudarthrosis of the ulna: a case report.

A case of congenital pseudarthrosis of the ulna is described. The inevitability of dislocation of the radial head in the early years of life, is pointed out. Following dislocation of the radial head, creation of a stable single-bone forearm is necessary to prevent loss of hand function due to effective shortening of the long flexors. A method of radioulnar fusion is described. Following such fusion good hand function can be anticipated, as the vital humeroulna radiocarpal joints are intact.

Child↗
PubMed1978

Total body potassium fat free weight and maximal aerobic power in children with anorexia nervosa.

Body composition and aerobic work performance have been studied in 5 boys and 10 girls suffering from anorexia nervosa. The average ages of the two groups of children were 15.4 (boys) and 15.2 (girls) years respectively. Measurements of body composition included height, weight (W), body potassium (40K), skinfold thickness (SFT) at triceps and subscapularis, blood volume (BV) and femoral condylar and radioulnar breadths. From these measurements estimates of fat free weight (FFW), skeletal weight (S) and lean body mass (LBM) were made. Work performance was assessed by measurement of the maximal aerobic power (VO2 max). The patients had lost on average 26% of their former body weight. The boys had on average greater than 7% of their body weight as fat compared with greater than 9% in the girls. However, the loss of weight was not solely due to loss of body fat, but could also be ascribed to a decrease in soft fatfree tissue. LBM or FFW could be estimated as well from SFT as from 40k. vo2 max averaged 1.43 1/min (35.1 ml/kg/min) in the anorexic boys and 1.24 l/min (33.2 ml/kg/min) in the girls and was associated with FFW and LBM. However, VO2 max was lower in relation to LBM than in healthy children of the same age. Thus it was suggested that the emaciation in anorexia is directly attributable to loss of both fat and muscle and accounts in part for the reduction of aerobic power observed. However, an important factor may be the debilitating effect of starvation on the patient, particularly in its advanced and later stages, which reduces his/her level of habitual physical activity.

Adolescent↗