Carpal Coalitions Research Articles

Bilateral ST-coalition with thumb hypoplasia and scaphoid synchondrosis.

Carpal coalitions are rare wrist anomalies and are most often diagnosed incidentally.Due to their infrequent occurrence, there is a lack of treatment guidelines in the literature. We present a case study of a 13-year-old boy who presented with symptomatic synchondrosis in both scaphoids along with a bilateral osseous coalition between the scaphoid and trapezium bones in combination with bilateral thumb hypoplasia.We initiated a 10-week immobilization of the wrist, followed by gradual increasing weight-bearing. The patient showed significant symptom relieve after immobilization,further supporting the conservative treatment. In conclusion, a definitive treatment recommendation cannot be made. For young patients, we suggest initiating conservative treatment as the first option. A precise analysis of the pathology and wrist kinematics is mandatory to recommend further therapy especially if operative interventions might be considered.

Arthroscopic Resection of Lunotriquetral Coalition

Carpal coalition is a rare condition caused by a failure in the process of apoptosis. It is often incidentally diagnosed and seldomly symptomatic. The lunotriquetral joint is the most commonly affected joint, accounting for 90% of carpal coalitions. Minnaar classified the lunotriquetral coalitions into 4 types based on their type, extent, and associated abnormalities. Accurately classifying the coalition requires advanced imaging, and we show an example that includes 2-dimensional and 4-dimensional computed tomography and magnetic resonance imaging. Management of carpal coalitions include nonoperative and operative management. Splinting, anti-inflammatory drugs, hand therapy, activity modification, and steroid injections are all examples of nonoperative management. Operative management of coalitions in the carpus has historically been an arthrodesis whereas in the tarsal bones the gold standard is resection. Arthrodesis has a high complication rate and reduces wrist range of motion, whereas resection retains range of motion and allows the patient to return to activity sooner. We present 2 techniques of treating symptomatic carpal lunotriquetral coalition with arthroscopic resection.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155); a rare osteochondrodysplasia characterized by short stature, congenital bilateral hip dysplasia, carpal coalitions, and scoliosis. We now report segregation of this variant in five probands from the initial clinical report defining the syndrome and an additional family of Puerto Rican descent with multiple affected adult individuals. We modeled the orthologous variant in murine Col27a1 and found it recapitulates some of the major Steel syndrome associated skeletal features including reduced body length, scoliosis, and a more rounded skull shape. Characterization of the in vivo murine model shows abnormal collagen deposition in the extracellular matrix and disorganization of the proliferative zone of the growth plate. We report additional COL27A1 pathogenic variant alleles identified in unrelated consanguineous Turkish kindreds suggesting Clan Genomics and identity-by-descent homozygosity contributing to disease in this population. The hypothesis that carrier states for this autosomal recessive osteochondrodysplasia may contribute to common complex traits is further explored in a large clinical population cohort. Our findings augment our understanding of COL27A1 biology and its role in skeletal development; and expand the functional allelic architecture in this gene underlying both rare and common disease phenotypes.

A lunate-triquetral coalition from a commingled funerary context from the Chalcolithic Perdigões ditched enclosures of Portugal.

Carpal coalitions, resulting from a failure of separation of the cartilaginous precursors of the carpal bones during gestation, may be osseous or non-osseous. Even though lunate-triquetral coalitions are the most common of all carpal coalitions there is only one previous palaeopathological report of such a coalition. This study presents a non-osseous lunate-triquetral coalition found amongst the mostly cremated commingled bones from a Chalcolithic pit at Perdigões (Portugal). The cremated bones show evidence of burning at varying but mostly at generally high temperatures. The perfect articulation between these right bones and pinpoint pitting in the lunate-triquetral joint were crucial for the identification of this congenital condition. Carpal coalitions are more frequent in African than European populations. Artifacts produced from ivory of African origin were found in Perdigões, however it is not possible to establish the ancestry of this individual.

Spondylocarpotarsal synostosis syndrome: “Bat wings” spinal fusions and “ladybug” carpal coalitions

Spondylocarpotarsal synostosis syndrome: “Bat wings” spinal fusions and “ladybug” carpal coalitions

Carpal Coalitions on Radiographs: Prevalence and Association With Ordering Indication

Carpal coalitions are common and usually incidental to the indication for wrist radiographs. It is not clear if, or when, carpal coalitions cause pain. The aim of this study was to assess the prevalence of incidental carpal coalitions by evaluating radiographs taken for various indications and to test the association of demographic variables and ordering indications with the finding of a carpal coalition. We reviewed 1,119 posteroanterior wrist radiographs for the presence of carpal coalition. We used bivariate and multivariate analyses to assess demographic factors for their independent associations with the presence of carpal coalitions and to compare the difference in the prevalence of carpal coalitions between radiographs obtained to evaluate traumatic wrist pain (623 wrists), nontraumatic wrist pain (175 wrists), and other reasons (321 wrists). Radiographs of 98 out of 1,119 patients (8.8%) showed a carpal coalition. Carpal coalitions were equally likely on radiographs obtained for traumatic wrist pain and nontraumatic wrist pain. Patients with no wrist trauma or wrist pain were less likely to have a carpal coalition on their radiograph. We consider carpal coalitions an unlikely cause of wrist pain. The lower prevalence in radiographs obtained for causes other than wrist trauma or wrist pain remains unexplained, although it may be spurious. In the evaluation of a patient with nonspecific wrist pain, clinicians should be careful ascribing symptoms to anatomical variations on radiographs. These incidental findings should not usually affect management. Diagnostic III.

Symptomatic Scaphotrapeziotrapezoid Carpal Coalition: The Natural History and a Surgical Option for Treatment

Carpal coalitions are uncommon and are frequently asymptomatic. 15 Patients with persistent symptomatic scaphotrapeziotrapezoid (STT) carpal coalitions unresponsive to six months of conservative treatment with no history of trauma went for further investigations. CT scans and bone scans revealed that coalition was the only abnormality to account for the patient’s ongoing problems. The senior authors explored the carpal coalition surgically excising the affected region and interposing capsular fibrous tissue. Histologically partial bony and cartilaginous bridging was evident with no features of degenerative arthritis being noted. Good or excellent subjective results were achieved in all patients at final review an average of 2.7 (1.0 - 4.2) years after surgery. All patients described significant reduction in visual analogue pain scores from an average of 71.5 to 18.4 points. The Green and O’Brien wrist scores improved from a mean of 58.2 to 94.2, with all patients returning to work with improved function. Normally carpal coalition is treated with arthrodesis or excision of part of the carpus. A further treatment option is outlined here with recreation of the joint space in symptomatic, isolated, nonsyndromic scaphotrapezio-trapezoidal coalition.

Incidence of Carpal Coalition in the Pediatric Population.

Carpal coalitions (CCs) result from the failure of segmentation of the carpal anlage in early development. In the adult population, CC is usually described as an asymptomatic radiographic finding. Data on CC in the pediatric population are limited. This study examines the prevalence of CC in the pediatric population and characterizes the presentation and associated musculoskeletal conditions. We used a cross-sectional design to assess data collected from all patients seen in our institution and associated facilities from August 2004 through February 2013. In total, 20,929 patients had an upper extremity x-ray taken that included the wrist. A natural language software recognition program for key words identified 104 patients with CC. Period prevalence and demographic and radiographic data were estimated using frequency and percentages. The period prevalence of CC in this population was 5:1000. The initial age at the radiologic CC presentation varies between types. The most common CC (luno-triquetral, 69.2%) had a mean age at presentation of 12 y 11 mo. The second most frequent CC (capito-hamate, 17.2%) had a mean age at presentation of 8 y 2 mo. CCs were more prevalent among African American children; however, capito-hamate coalitions (the second most common coalition) were more often observed in whites. CC was symptomatic in 2 patients. Thirty-nine patients had associated conditions such as skeletal dysplasia and limb deformity, and most of these patients were diagnosed with capito-hamate coalitions. The period prevalence of CC in this pediatric population is 5:1000. Similar prevalence has been reported in other studies. Although the prevalence of CC is comparable by sex, it is most common among African American children. The most common CC is luno-triquetral followed by capito-hamate. Capito-hamate coalitions were more common among patients with associated conditions and were diagnosed at a younger age relative to other subtypes in our group. Level IV-prognostic case series.

Carpal Coalitions and Metacarpal Synostoses: A Review.

Background: Carpal coalition and metacarpal synostosis are uncommon congenital anomalies of the carpus and hand. Methods: A comprehensive review of the literature was performed to help guide surgical and non-surgical treatment of carpal coalition and metacarpal synostosis. Results: The embryology, epidemiology, medical and surgical management, and associated outcomes are detailed. Conclusions: Most patients with these disorders will likely benefit from conservative measures. Surgery should be considered in patients with pain and limitations in wrist and hand function.

Osseous Scaphotrapezial Coalition.

Osseous scaphotrapezial coalition is one of the rarest forms of carpal coalition of the hand. Often discovered incidentally, pain and functional limitation have not been reported. Carpal coalitions occurring across the carpal rows are thought to occur as a result of some insult or congenital anomaly. Isolated scaphotrapezial coalition calls into question the traditional thinking that fusion between the proximal and distal carpal rows must be acquired or associated with congenital syndromes.

Bilateral Scaphotrapezium-Trapezoid Coalition With Bipartite Scaphoid: Case Report

We report on a 15-year-old girl with bilateral scaphotrapezium-trapezoid coalitions and bipartite scaphoids. There was no history of trauma or any other associated pathology. Wrist pain was alleviated by arthrodesis of the pseudarthrosis of the scaphoid component of the coalitions. Coalition of the distal portions of the scaphoids may have interfered with union of 2 ossification centers of the scaphoid. It is also possible that the carpal coalitions predisposed the scaphoid to fracture and that this represents bilateral nonunion.

Carpal Coalition

Carpal coalition is a relatively common, yet poorly recognized, anomaly that may present independently or in association with syndromic or metabolic disorders. While largely asymptomatic, symptoms may manifest secondary to biomechanical stress at the site of fusion. The purpose of this report is to describe 103 cases of carpal synostosis and provide a review of the etiology, classification, and clinical significance of intercarpal fusion. Retrospective review of medical and radiographic records was conducted on all patients with identified carpal coalitions, between 2008 and 2012, at our institution. Demographic and historical data regarding trauma, infection, documented joint disease, and prior wrist symptomatology were analyzed for each case, and radiographic evaluation of carpal alignment was performed. A total of 103 cases of carpal coalition, among 85 individuals, were reviewed. All cases presented asymptomatically with the highest proportion noted among individuals of African-Caribbean descent. The most frequent variant in our study population was lunate-triquetral coalition, which was present in 92 of the 103 identified cases. None of the cases evaluated in this study demonstrated clinical or radiographic evidence of carpal mal-alignment or instability. The results of our investigation demonstrate that carpal coalition presented most frequently among individuals of African-Caribbean descent. While the prevalence of this condition has yet to be studied specifically in Hispanic and African-Caribbean populations, our findings may reflect the genetic linkage between these and certain West African populations. To our knowledge, this represents the largest clinical series of carpal coalition in the English literature.

Carpal Coalitions; Failures of Differentiation of the Carpus: A Description of Cases

Synostosis of carpal bones originates from lack of cavitation at the site of the future joint space with subsequent chondrification and ossification during the 4th to 8th weeks of intrauterine life. It is mostly seen as a chance finding discovered on radiographs. These coalitions are often asymptomatic, but can give complaints after trauma. We report six patients with different congenital carpal coalitions. These cases include synostoses of: scaphoid and trapezium, scaphoid and trapezium with a large scapholunate distance, lunate and triquetrum, capitate and trapezoid, capitate and hamate, triquetrum and pisiform. We also give a review of the literature and treatment proposal.

Congenital Malformations of the Hand and Forearm in Children: What Radiologists Should Know

Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions.

Hamate‐pisiform coalition: Morphology, clinical significance, and a simplified classification scheme for carpal coalition

Hamate-pisiform coalition is characterized by the abnormal union of the pisiform bone and hamulus of the hamate. Because most reported cases are isolated, and literature on the subject is sparse, relatively little is known about this condition and its clinical significance. The purpose of this report is to discuss the occurrence, morphology, and frequency of hamate-pisiform coalition identified in a skeletal sample of native South Africans, and to conduct a metaanalysis of all known cases in order to clarify the sex distribution, laterality, form, and clinical significance of this condition. Five new cases (three male, two female) of hamate-pisiform coalition were identified in 527 native South Africans. Results indicate that hamate-pisiform coalition is infrequent (0.76%) but may be more likely encountered in individuals of African ancestry. Morphologically, non-osseous examples ranged in appearance from minor expressions involving pitting of an expanded hamulus base, to a variably pitted articulation between an elongated pisiform and hamulus. Osseous union between the two bones tends to extend beyond the hamulus base to adjacent areas of the hamate. Cases involving osseous union appear predisposed to fracture while ulnar neuropathy is significantly more frequent in individuals exhibiting non-osseous coalition. As both non-osseous and osseous cases can have clinical significance, awareness of the variable manifestations of this condition is necessary for hand specialists. A simplified classification system is suggested to more consistently characterize carpal coalitions.

Bilateral Scaphotrapezium Coalition with Bilateral Scaphoid Nonunion in a Patient with Klippel–Feil Syndrome: A Case Report

The purpose of this case report is to discuss the evaluation and management of scaphoid nonunion in patients with congenital musculoskeletal syndromes. Klippel–Feil syndrome (KFS) is a rare disorder characterized by the presence of congenital synostosis of some or all cervical vertebrae [26] caused by a failure in the normal segmentation of the cervical vertebrae during the third to the eighth week of gestation [25]. The classic clinical triad of KFS consists of a short neck, low posterior hairline, and limited neck range of motion due to cervical synostosis [26]. Abnormalities of the hand have been associated with KFS [2, 4, 8, 15, 25] and are predominantly preaxial [2, 4, 15, 25]. One instance of a postaxial anomaly in a patient with KFS has been reported [2]. A prior identification of capitohamate coalition in a patient with Klippel–Feil syndrome was suggested to be a manifestation of a new clinical syndrome [14]. Additional carpal coalitions have not been reported nor have scaphoid abnormalities secondary to the carpal coalitions been described that are associated with Klippel–Feil syndrome.

Steel Syndrome: Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, Short Stature, and Characteristic Facial Features

A syndrome of children with short stature, bilateral hip dislocations, radial head dislocations, carpal coalitions, scoliosis, and cavus feet in Puerto Rican children, was reported by Steel et al in 1993. The syndrome was described as a unique entity with dismal results after conventional treatment of dislocated hips. The purpose of this study is to reevaluate this patient population with a longer follow-up and delineate the clinical and radiologic features, treatment outcomes, and the genetic characteristics. This is a retrospective cohort study of 32 patients in whom we evaluated the clinical, imaging data, and genetic characteristics. We compare the findings and quality of life in patients with this syndrome who have had attempts at reduction of the hips versus those who did not have the treatment. Congenital hip dislocations were present in 100% of the patients. There was no attempt at reduction in 39% (25/64) of the hips. In the remaining 61% (39/64), the hips were treated with a variety of modalities fraught with complications. Of those treated, 85% (33/39) remain dislocated, the rest of the hips continue subluxated with acetabular dysplasia and pain. The group of hips that were not treated reported fewer complaints and limitation in daily activities compared with the hips that had attempts at reduction. Steel syndrome is a distinct clinical entity characterized by short stature, bilateral hip and radial head dislocation, carpal coalition, scoliosis, cavus feet, and characteristic facial features with dismal results for attempts at reduction of the hips. Prognostic Study Level II.

Standard variant venous dysplasia of the cerebellum in a patient suffering from Muenke's syndrome and tinnitus

Background: Muenke's syndrome is a rarely seen craniosynostosis syndrome. Bilateral or unilateral coronal craniosynostosis, brachydactyly, tarsal and carpal coalitions are the typical clinical findings. Sensorineural hearing loss is reported in more than 30% of the affected patients. In patients with Muenke's syndrome intracranial vascular dysplasia has not been reported yet. Patient and methods: A 13-year-old boy suffering from Muenke's syndrome reported a pulsating left-sided light tinnitus. Clinically a bluish formation was found at the lower part of the left-sided ear drum. In order to clarify the cause of the tinnitus and the bluish formation, extensive diagnostics (e.g. audiometry, magnet resonance tomography, magnet resonance phlebography, angiography) were carried out. Results: Audiometry found a left sensorineural hearing loss with a conductive component. Radiological investigations found a standard variant venous dysplasia of the left petrous bone to be the reason for the tinnitus. Conclusion: Awareness of intracranial vascular dysplasia should be noted in individuals with Muenke's syndrome especially in cases of clinically suggestive symptoms like pulsating tinnitus.

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.

Osseous anatomic variants of the wrist: findings on MR imaging.

A natomic variants of the osseous structures of the wrist are common and readily detected on MR imagmg. Noteworthy variations include accessory ossicles, carpal coalitions, variable lunate morphology, articular lipping at the pisotriquetral joint, and pseudosubluxation of the distal radioulnar joint. Although many of these entities can be identified or clarified on radiographs alone, their appearance on radiography may be ambiguous or radiographs may not be available at the time of MR image evaluation. The correct identification ofthese variants on MR studies is important so that these often incidental entities are not mistaken for pathologic findings or otherwise cause confusion. In some cases, however, these anatomic variants are associated with symptomatic conditions, and familiarity with the MR appearance of these osseous vanants may prevent misinterpretation.