Congenital radioulnar synostosis.
Ontology highlight
ABSTRACT:
SUBMITTER: Tsai J
PROVIDER: S-EPMC5551910 | biostudies-other | 2017 Sep
REPOSITORIES: biostudies-other
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Project description:Acute elbow extension deficit is an unusual phenomenon that has been observed in patients with congenital radioulnar synostosis. We report the case of an 11-year-old girl with congenital radioulnar synostosis who developed acute extension deficit of the right elbow and whose elbow range of motion was restored following lateral capsular release.
| S-EPMC4245278 | biostudies-literature
Project description:BackgroundDerotational osteotomy remains the most commonly performed procedure in patients with congenital radioulnar synostosis (CRUS). Bone fixation is mostly performed using K-wires or plates. Many scars, loss of correction and neurovascular complications in the form were the most common complications across the studies. This report introduces a novel, minimally-invasive surgical approach, and reviews our experience.MethodsTwenty-seven children with CRUS were treated using the new technique, including bilateral forearms in 12 cases and unilateral forearm in 15 cases. A transverse osteotomy was performed at the ulnar and radial fusion site, the forearm was derotated osteotomy to the target position, intramedullary nailing was performed, and the elbow was flexed 90 degrees with a long-arm cast after surgery. One week after surgery, the forearm swelling disappeared, the long-arm cast was replaced, the elbow flexed at 90 degrees, and the forearm fixed in the maximum supination position for 4 weeks. Pre- and post-operative positions of the forearm were recorded; the pre- and post-operative activities of daily living (ADL) item scores were recorded for each patient.ResultsAll patients were followed up postoperatively for a mean duration of 20.7 months. The mean initial pronation deformity was 59.7±12.20 (40 to 100) degrees. The mean correction achieved was 51.2±14.50 degrees, resulting in a mean final position of 8.59±8.10 degrees of supination. The fixed angles of forearm pronation after surgery were corrected to 0-20°, with a mean of 8.33º [standard deviation (SD) 7.98°), and the difference was statistically significant compared with that before surgery (P<0.01). The patients' pre- and post-operative ADL item scores were 3.6 and 4.5, respectively, which was a 0.9-point change and was statistically significant (P<0.01). After surgery, 26 patients obtained good healing, and only one patient had delayed union, which was healed with forearm immobilization for a further month.ConclusionsRotational osteotomy with single incision and elastic fixation for CRUS in children is a simple operation, and provides advantages including small trauma, fewer postoperative complications, and good efficacy.
| S-EPMC9173886 | biostudies-literature
Project description:Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and congenital fusion of the radius and ulna. A heterozygous HOXA11 mutation has been identified in two unrelated families as a cause of RUSAT. However, HOXA11 mutations are absent in a number of individuals with RUSAT, which suggests that other genetic loci contribute to RUSAT. In the current study, we performed whole exome sequencing in an individual with RUSAT and her healthy parents and identified a de novo missense mutation in MECOM, encoding EVI1, in the individual with RUSAT. Subsequent analysis of MECOM in two other individuals with RUSAT revealed two additional missense mutations. These three mutations were clustered within the 8(th) zinc finger motif of the C-terminal zinc finger domain of EVI1. Chromatin immunoprecipitation and qPCR assays of the regions harboring the ETS-like motif that is known as an EVI1 binding site showed a reduction in immunoprecipitated DNA for two EVI1 mutants compared with wild-type EVI1. Furthermore, reporter assays showed that MECOM mutations led to alterations in both AP-1- and TGF-?-mediated transcriptional responses. These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT. We report missense mutations in MECOM resulting in a Mendelian disorder that provide compelling evidence for the critical role of EVI1 in normal hematopoiesis and in the development of forelimbs and fingers in humans.
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| S-EPMC10509669 | biostudies-literature
Project description:Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) type 2, caused by MDS1 and EVI1 complex locus (MECOM) gene mutations, is a rare inherited bone marrow failure syndrome (IBMFS) with skeletal anomalies, characterized by varying presentation of congenital thrombocytopenia (progressing to pancytopenia), bilateral proximal radioulnar synostosis, and other skeletal abnormalities. Due to limited knowledge and heterogenous manifestations, clinical diagnosis of the disease is challenging. Here we reported a novel MECOM mutation in a Chinese boy with typical clinical features for RUSAT-2. Trio-based whole exome sequencing of buccal swab revealed a novel heterozygous missense mutation in exon 11 of the MECOM gene (chr3:168818673; NM_001105078.3:c.2285G > A). The results strongly suggest that the variant was a germline mutation and disease-causing mutation. The patient received matched unrelated donor hematopoetic stem cell transplantation (HSCT). This finding was not only expanded the pathogenic mutation spectrum of MECOM gene, but also provided key information for clinical diagnosis and treatment of RUSAT-2.
| S-EPMC10799460 | biostudies-literature
Project description:Posttraumatic radioulnar synostosis (RUS) is a rare event following forearm fractures. Consequences are disabling for patients who suffer from functional limitation in forearm pronosupination. Distal RUS are even more rare and more difficult to treat because of high recurrence rates. The patient we describe in this paper came to our attention with a double distal RUS recurrence and a Darrach procedure already performed. We performed a radical excision of RUS and interposition with a vascularized dorsoulnar artery (DUA) adipofascial perforator flap. Four years after surgery, the patient shows the same complete range of motion in pronosupination, and MRI confirms that the flap is still in place with signs of vascularization. Simple synostosis excision has been proven ineffective in many cases. Interposition is recommended after excision, and biological material interposition seems to be more effective than foreign material. Surgeons are increasingly performing vascularized interposition, and the results are very encouraging.
| S-EPMC5546175 | biostudies-other
Project description:Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.
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Project description:We propose a landmark-based, virtual coordinate system, specifically designed for assessment of asymmetrical craniofacial anatomy associated with unicoronal synostosis.MethodCT scans of 33 patients with nonsyndromic unicoronal synostosis were included. Proposed mid-sagittal plane was compared with commonly used sagittal planes: (1) nasion, sella, and basion (N-S-BA); (2) midplane of bilateral frontozygomatic sutures (midFZ); and (3) the skull gravity center plane, to evaluate reliability and validity in the assessments of the anterior and posterior skull base.ResultsThe proposed midplane is similar to the midFZ plane in describing the direction of the anterior skull base. However, it has less bias than the N-S-BA (P < 0.001), and the gravity center planes (P < 0.001). The proposed midplane measures the direction of the posterior skull base plane, similar to the midFZ and gravity center planes, but it has less measurement deviation than the N-S-BA plane (P < 0.001). The most protrusive point on the frontal bone in unicoronal patients is contralateral to the fused suture and distant from the mid-sagittal plane by 13.93 ± 4.01 mm. In addition, it is more anteriorly positioned, by 5.32 mm (P < 0.001), when compared with the corresponding point on the synostotic side. The uppermost point of the supraorbital rim on the synostotic side is cephalic to that of the contralateral side by 4.09 mm (P < 0.001).ConclusionsPrioritized orientation of an averaged Frankfort horizontal plane, followed by the location of the mid-sagittal and coronal planes, can generate a reliable and valid coordinate framework for the assessment of asymmetric skull shape in unicoronal synostosis.
| S-EPMC8376362 | biostudies-literature
Project description:Distal radioulnar joint (DRUJ) stability requires competent static and dynamic soft tissues. Multiple DRUJ techniques have been described in the literature. Our method is a novel modification of the Gupta method of DRUJ stabilization used in a revision reconstruction on a patient with a total wrist arthroplasty. A brachioradialis graft is harvested and tunneled through Parona's space volar to the pronator quadratus and through the muscle body. The tendon is then brought dorsal between the radius and ulna to the dorsal side of the distal ulna and sutured to the floor of the 5th extensor compartment, as well as to the surrounding extensor reticulum ulnar to the 6th compartment with nonabsorbable sutures. Our modification of the method described by Gupta prevents ulnar subluxaton of the extensor carpal ulnaris (ECU), allows the tendon graft construct to more adequately resist volar translation of the radius, and thus acts like a leash to pull the radius dorsally to the stationary ulna. This modification gives the graft a better force vector to resist the volar translation of the distal radius. We are able to present successful 30-month follow-up of this procedure.
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