Radial Deficiency Research Articles

Acquired Radial Club Hand: An Algorithm to Manage Radial Deficiency.

Introduction Loss of radius either due to trauma or infection results in a deformity resembling a congenital radial club hand. This deformity results in difficulty to perform hand functions and cosmetic appearanceand is called acquired radial club hand. There are a few case reports for the treatment of this severe deformity, but there are no proper guidelines for the management of this disease. From our experience, we decided to provide treatment guidelines for acquired radial club hand. Objectives To evaluate the outcome of radial deformity treatment in acquired radial club hand injuries and develop a treatment algorithm. Patients and methods It is a case series study of 11 patients with acquired radial club hand. It was conducted at a tertiary care hospital in Pakistan, from year 2016 to 2022. Basic principles of management of infection and trauma were followed. For the treatment of radial deformity, different options were opted according to the type of deformity, following the principles of treatment of congenital radial club hand. The outcome was graded on functional activity, pain, and bony union. Results Out of 11 patients, 36.36% showed excellent results, 27.27% showed good results, 27.27% showed fair results, and 9.09% showed poor results. Results were excellent in all patients with avascularized bone graft and distraction lengthening, with or without the Darrach procedure. Of the patients in whom distraction lengthening was performed, one patient showed excellent results while the other patient achieved similar results after the Darrach procedure of ulnar shortening. In the case of one bone formation by radioulnar synostosis, the results were variable. Two of the patients showed good outcomes while the other two had fair outcomes. Results in the case of ulnar centralization were mixed with good, fair, and poor results in one patient each. After three months of follow-up, 87% of the patients showed fair to excellent results. Conclusion With our experience, we recommend an algorithm for the treatment of acquired radial club hand.

Evaluation of the ulna lengthening by distraction osteogenesis in congenital radial deficiency

PurposePublications evaluating the results of the ulna lengthening in congenital radial deficiency are based only on small groups of subjects which yield statistical studies of low scientific value. The aim was to examine the effectiveness of ulna lengthening in radial longitudinal deficiency and determine the number and quality of complications based on one of the most numerous study groups described in the literature.MethodsThe material consists of a study group with 31 upper limbs of unmatured patients diagnosed with type III and IV radial longitudinal deficiency. The study group was evaluated based on the parameters known from the literature. The difficulties during elongation were classified according to Paley’s classification.ResultsThe study group contained patients with a mean age of 9 years, and the number of boys and girls was comparable. Ulna length significantly increased after elongation compared to the initial bone length. The patient’s age didn’t affect the ulna lengthening, and the amount of elongation didn’t significantly affect the total stabilization period. However, the total stabilization time increased with increasing patient age. Difficulties affected more than half of the cases.ConclusionsUlna elongation in congenital radial deficiency results in significant lengthening of the ulna, and thus the entire forearm, compared to the initial bone length. This technique has a high percentage of difficulty, so its use should be considered after cautious discussion with the parents and patients.

Media Depiction of Birth Differences of the Upper Extremity: Accuracy of Shared Diagnoses.

To assess the diagnostic accuracy of public representation of congenital differences of the upper extremities. We hypothesized that there is an over-diagnosis of certain diagnoses such as amniotic constriction band and under-diagnosis of others such as symbrachydactyly and radial deficiency. Publicly shared images and associated diagnoses were searched on publicly available news media and social media accounts published from October 2018 through November 2021 using key terms such as "amniotic band syndrome," "congenital arm amputation," and "3D prosthetic arm" as well as The Lucky Fin Project account on Instagram. The images were collected and reviewed by 2 congenital hand surgeons. The surgeons' diagnoses were then compared to the reported diagnoses associated with each image to assess accuracy. A total of 100 images were collected with the reported diagnosis associated with each image. Two images were removed due to evidence of prior surgery. The hand surgeons' diagnosis disagreed with the reported diagnosis in 60 of 98 (61%) images. Of those 60 inaccurate diagnoses, 2/3 were reported as amniotic constriction band. Media and social media depictions of congenital upper extremity differences are frequently inaccurate, and our search demonstrated that the amniotic constriction band is the most commonly reported, inaccurate diagnosis. Accuracy of diagnosis in public media is important given the impact a diagnosis has on those viewing and sharing the images. Level IV, diagnostic.

Radial club hand managed with ulnar osteotomy and centralization of hand: a case report and review

<p>Radial club hand also called radial longitudinal deficiency or radial dyspasia is a preaxial longitudinal failure of formation. As the defect is preaxial it is often associated with thumb hypoplasia or anomaly of the radial aspect of the carpus. It is diagnosed clinically and on X-rays. It is frequently syndromic so it is a must to look for associated congenital anomalies by doing a through clinical examination. The frequency of this anomaly is between 1:50000 to 1:100000 live births. The incidence of all radial ray-deficient limbs, including hypoplastic thumbs alone, is approximately 1:30000. The radial deficiency is bilateral in 50% of the cases and the male:female is 3:2. It includes a wide spectrum of disorders that encompass an absent thumb or thumb hypoplasia, a thin first metacarpal and an absent radius. We report here a 1.5 years old child with isolated type IV radial club hand without any restricted range of motion in elbow managed with osteotomy of ulna and centralization of hand.</p>

Ulnar club hand: A rare case report

Ulnar club hand is a rare postaxial partial or complete longitudinal deficiency of the ulna, with relative incidence of one-tenth to one-third of radial deficiencies. The absence of postaxial metacarpal and digital bones is a frequent finding in this rare disorder. However, we report a rare case of unilateral ulnar club hand with the absence of two preaxial digits and two preaxial metacarpals.

Defining Features of Hand Anomalies in Severe Thumb Hypoplasia: A Classification Modification

Purpose To investigate morphologic hand anomalies in children with severe but unclassifiable forms of thumb hypoplasia and radial-sided hand deficiency. Methods We identified 15 extremities in 13 patients with severe thumb hypoplasia and associated absent radial-sided digits through the Congenital Upper Limb Differences registry. All patients had forearm involvement. Medical records, clinical photographs, and radiographs were evaluated. Radial longitudinal deficiency (RLD) and thumb hypoplasia were classified according to the Bayne and Klug classification and modified Blauth classification, respectively. Unusual or defining associated hand characteristics were identified and categorized. Results The most common type of forearm abnormality was absence of the radius (Bayne and Klug type IV), which was present in 10 extremities in the cohort. All 15 extremities had absent thumbs with loss of additional digits. In 6 patients, RLD was part of a syndrome (46%). Conclusions Severe forms of thumb hypoplasia in RLD are uncommon. We propose a further modification of the Blauth classification of thumb hypoplasia, type VI, for improved communication regarding this severe type of radial deficiency involving the hand. Type of study/level of evidence Diagnostic IV. To investigate morphologic hand anomalies in children with severe but unclassifiable forms of thumb hypoplasia and radial-sided hand deficiency. We identified 15 extremities in 13 patients with severe thumb hypoplasia and associated absent radial-sided digits through the Congenital Upper Limb Differences registry. All patients had forearm involvement. Medical records, clinical photographs, and radiographs were evaluated. Radial longitudinal deficiency (RLD) and thumb hypoplasia were classified according to the Bayne and Klug classification and modified Blauth classification, respectively. Unusual or defining associated hand characteristics were identified and categorized. The most common type of forearm abnormality was absence of the radius (Bayne and Klug type IV), which was present in 10 extremities in the cohort. All 15 extremities had absent thumbs with loss of additional digits. In 6 patients, RLD was part of a syndrome (46%). Severe forms of thumb hypoplasia in RLD are uncommon. We propose a further modification of the Blauth classification of thumb hypoplasia, type VI, for improved communication regarding this severe type of radial deficiency involving the hand.

Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry.

Deficiency of the radial aspect of the forearm and hand is the most common congenital longitudinal deficiency of the upper limb. Radial longitudinal deficiency is associated with several named syndromes. The purpose of the present study was to explore patterns of radial longitudinal deficiency and thumb hypoplasia in syndromes and to examine the severity of these differences across various syndromes. Data were collected from the Congenital Upper Limb Differences (CoULD) registry. Congenital differences are classified in the registry with use of the Oberg-Manske-Tonkin (OMT) classification system. Diagnosis of a syndrome by a physician as noted in the CoULD registry was recorded. Thumb deficiency and radial deficiency were classified according to the modified versions of the Blauth criteria and the Bayne and Klug criteria, respectively. We identified 259 patients with 383 affected limbs with radial deficiency. Eighty-three of these patients had a diagnosed syndrome. The severity of radial deficiency was correlated with the severity of thumb deficiency. The Kendall tau coefficient indicated significant correlation between radial severity and thumb severity (tau = 0.49 [95% confidence interval = 0.40 to 0.57]; p < 0.05). Subjects with a syndrome were twice as likely to have bilateral deficiency and 2.5 times more likely to have both radial and thumb deficiency compared with subjects without a syndrome. Subjects with VACTERL syndrome (vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) had patterns of thumb and radial deficiency similar to the general cohort, whereas subjects with Holt-Oram syndrome, TAR (thrombocytopenia absent radius) syndrome, and Fanconi anemia demonstrated varied presentations of thumb and radial deficiency. The present study investigated the characteristics of patients with radial longitudinal deficiency and thumb hypoplasia. Our results support the findings of previous research correlating the severity of radial deficiency with the severity of thumb deficiency. Furthermore, we identified characteristic features of patients with radial longitudinal deficiency and associated syndromes.

Bilateral Radial Club Hands at the Komfo Anokye Teaching Hospital, Kumasi, Ghana: A Case Report.

Radial Club Hand (RCH) is a rare and complex congenital disorder of the pre-axial border of the upper extremity. It is a congenital longitudinal radial ray deficiency which presents as radial deviation of the hand and distal forearm in the shape of a golf club 1, 2. Radial ray deficiency (the most common type of longitudinal failure of formation) is a spectrum of malformations affecting the structures of the radial side of the forearm, including hypoplasia of the bones, joints, muscles, tendons, ligaments, nerves and blood vessels. The thumb dysfunction, wrist instability and short upper extremity that accompany this condition can cause significant functional impairment particularly in patients with bilateral involvement. Thus, the performance of activities of daily living such as accomplishing personal hygiene, fastening buttons and zippers becomes challenging 3.

Upper extremity anomalies in children with femoral and fibular deficiency.

Defects occurring in the femoral-fibular-ulnar developmental field are believed to cause the cluster of anomalies seen with femoral, fibular and ulnar limb deficiencies. Upper limb function must be considered in the management of lower limb deficiencies. The purpose of this study is to determine the frequency and type of upper extremity anomalies found in children with femoral and/or fibular deficiency. A retrospective review of 327 consecutive patients with the diagnosis of femoral and/or fibular deficiency was performed using existing records and radiographs. Characteristics of those with and without upper extremity anomalies were compared. Upper extremity anomalies were identified in 56 patients. They were more common among those with bilateral, compared with unilateral, lower extremity deficiencies (P < 0.0001). Seventy-five upper limbs were involved with 50 ulnar deficiencies, nine congenital transhumeral deficiencies, four congenital shoulder disarticulations, seven cleft hands, two radial head dislocations and one each - radial deficiency, syndactyly and capitate-lunate coalition. Two patients with bilateral upper extremity anomalies had ulnar deficiency on one side and a transverse deficiency on the other. Upper extremity anomalies are found in 17% of children with femoral and/or fibular deficiency, especially with bilateral lower extremity involvement. Ulnar deficiency is the most common type but one-third had other anomalies. The frequent finding of congenital transverse upper extremity deficiencies suggests there may be common embryology.

Vascularized second metatarsophalangeal joint transfer for radial deficiency - an update.

Vascularized second metatarsophalangeal joint transfer offers a possibility to reconstruct the radial support which is lacking in radial dysplasia. Our experience from 1987 to 2017 with 34 congenital radial club hand reconstructions have allowed a possibility for long-term evaluation of the method. Compared with conventional methods, second metatarsophalangeal joint transfer results in better wrist mobility and does not restrict typical ulnar growth. The balance of the wrist remains good until age 11. Thereafter, the growth of the vascularized bone graft transfer matches only partially the distal ulnar growth in adolescence, resulting in mild recurrence of radial deviation. A new option to create a two-bone forearm in selected Bayne-Klug Type III radial dysplasia cases will allow a relatively good pro-supination ability. Potentially, a proximal fibular epiphyseal transfer could be a future solution. Currently, a safe harvest of the proximal fibula at childhood remains controversial.

"Radial Club Hand, a Rare Congenital Abnormality: Report of Two Cases"

Congenital radial deficiency is an extremely rare congenital anomaly and its presentation may vary from mild hypoplasia to complete absence of radius. Club hand deformities are classified into two main categories radial and ulnar. Ulnar club hand is much less frequent than radial club hand. It is also known as radial club hand or radial dysplasia. We report two cases of rare congenital abnormality which can be helpful to the literature.

Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.

Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Application of SAG caused malformations in 71% limbs including preaxial polydactyly (62%) and forearm abnormalities (43%). Retinoic acid application induced malformations in 56% of limb including preaxial polydactyly (45%) and forearm abnormalities (50%). Radial dysplasia and ulnar dimelia were observed in both experimental conditions. We demonstrate that ectopic Sonic hedgehog signalling may cause both preaxial polydactyly and predictable forearm anomalies and that these conditions could potentially be classified as one embryological group. We propose a unifying model based on known models of ectopic Sonic hedgehog signalling.

Ray resection in paediatric population

AimEvaluation of clinical and functional outcome of ray resection in paediatric population and description of key aspects of surgical technique. Material and methodsWe performed a retrospective review of all patients undergoing surgery between 2010 and 2015. Inclusion criteria: one or more ray resections of the hand and a minimum of one year follow-up. Evaluation of clinical characteristics, functional and cosmetic results, complications, need for psychological support and patient or family satisfaction. ResultsFour patients met the inclusion criteria. The mean age at surgery was 5 years (range, 1–14 years). Aetiology was: fibrolipomatous hamartoma, traumatic amputation, radial deficiency and complex syndactyly. Second ray was resected in three patients and third and fourth ray in one. No finger transfer was performed. No immediate post-operative complications were found at the final evaluation. None of them needed psychological support. All the patients showed excellent clinical and functional results with a high grade of satisfaction. DiscussionRay resection of the hand has been used as salvage procedure in patients with vascular lesions, tumours, trauma, infections or congenital malformations. There are only a few published studies including small samples in adults or case reports, with no references in the paediatric population. ConclusionRay resection of the hand is a useful and safe technique in paediatric population, obtaining excellent cosmetic and functional results in those cases in which it is impossible to preserve one or more fingers.

Resección de radios de la mano en pacientes pediátricos

AimEvaluation of clinical and functional outcome of ray resection in paediatric population and description of key aspects of surgical technique. Material and methodsWe performed a retrospective review of all patients undergoing surgery between 2010-2015. Inclusion criteria: one or more ray resections of the hand and a minimum of one year follow-up. Evaluation of clinical characteristics, functional and cosmetic results, complications, need for psychological support and patient or family satisfaction. ResultsFour patients met the inclusion criteria. The mean age at surgery was 5 years (range, 1-14 years). Aetiology was: fibrolipomatous hamartoma, traumatic amputation, radial deficiency and complex syndactyly. Second ray was resected in three patients and third and fourth ray in one. No finger transfer was performed. No immediate post-operative complications were found at the final evaluation. None of them needed psychological support. All the patients showed excellent clinical and functional results with a high grade of satisfaction. DiscussionRay resection of the hand has been used as salvage procedure in patients with vascular lesions, tumours, trauma, infections or congenital malformations. There are only a few published studies including small samples in adults or case reports, with no references in the paediatric population. ConclusionRay resection of the hand is a useful and safe technique in paediatric population, obtaining excellent cosmetic and functional results in those cases in which it is impossible to preserve one or more fingers.

The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome.

The genetic basis of thrombocytopenia-absent radius (TAR) syndrome was recently identified to be related to the RBM8A gene. The encoded protein (known as the Y14 protein) is widely expressed in human cells (including osteoblasts) and plays several essential intracellular functions. Hence, the pathogenesis of radial ray deficiency in thrombocytopeniaabsent radius syndrome remains a mystery. The current paper reviews the pathogenesis of the clinical features of thrombocytopenia-absent radius syndrome and offers a hypothesis of pathogenesis through attenuation of the Fibroblast Growth Factor 8 signal in the mesoderm because of an increased degradation of the Fibroblast Growth Factor Receptor 1.

Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia

Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization.

Radioulnar Synostosis Associated with Radial Deficiency

Radioulnar Synostosis Associated with Radial Deficiency

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome). The genetics of radial deficiencies is complex, characterized by genetic heterogeneity and high inter- and intra-familial clinical variability: this review will analyze the etiopathogenesis and the genotype/phenotype correlations of the main radial deficiency disorders in humans.

An Overview of Treatments for Congenital Forearm Longitudinal Deficiencies

Summary Introduction. Congenital anomalies are rare, affecting 1-2% of new-borns and only 10% of them have upper limb defects. Incidence of forearm longitudinal deficiencies is 1:55 000-1:100 000 live births which means that 1 case in every two to four years can be expected in Latvia. Centralisation surgical procedure was the main treatment option until 2008, but it had the worst functional outcome (as literature data also show). Starting from 2010, several new surgical techniques like microvascular metatarsophalangeal joint transfer, epiphyseal fibula flap transfer and wrist radialisation had been performed in the Microsurgery Centre of Latvia. Aim of the study. A retrospective study to collect and assess functional outcomes of different types of surgeries. Material and Methods. 5 patients (7 hands) with radial club hand deformity, one ulnar club hand deformity and one ulnar dimelia were treated in the Microsurgery Centre of Latvia from 2012 to 2014. The Paediatric Evaluation of Disability Inventory (PEDI) was used to evaluate functional outcome in children. ROM (range of motion), pinch and grasp forces were measured to establish wrist motion and stability. Visual analogue scale (VAS) was used to evaluate parents’ satisfaction. Results. 3 patients (5 hands) were selected for the trial. Two patients (3 hands) were not evaluated as thumb reconstruction is not done yet. Patients had a small (10-25°) reoccurrence of radial deviation after centralisation and radialisation procedures, whereas MTP (metatarsophalangeal) joint transfer patients had straight wrists. Wrist joint functionality in MTP patients was following: extension of 10°-35° and flexion of 20°-90°. In MTP transfer patients, PEDI score was 56-58 for daily activities (normal score – 50), 69-70 for mobility (normal score – 63). VAS score was greater for MTP joint transfer patients. Conclusion. Radial and ulnar deficiencies are rare and reconstructions should be done at age 2 - 4 years, because late reconstructions are more complicated due to the stiffness of the radial fingers. Radialisation procedure is the first choice for wrist stabilization, but, in some cases, MTP joint transfer or vascularised fibular head transfer can provide a better functional outcome in radial club hand patients.

Bone lengthening of the radius with temporary external fixation of the wrist for mild radial club hand

We report the utility of a surgical approach to treat mild (Bayne type I or II) radial club hand with a combination of radial bone lengthening and temporary external fixation between the ulna and the metacarpals. We evaluated five radial club hands that received a new procedure involving radius lengthening with external fixation to support the radial side of the wrist. The evaluation included an assessment of radial deficiency deformity recurrence from the anteroposterior radiographs and a measurement of the passive range of wrist motion with the use of a goniometer before surgery and at the time of the final follow-up. We recorded complications such as infection and nerve palsy. The healing index of the radius was from 72.2 to 298.9 day/cm (mean, 176.8 day/cm). The mean radial/ulnar deviation was 84.0/-14.0° before surgery and 37.0/13.0° at the time of the final follow-up. No correction loss was detected during the follow-up. All patients were able to hold and bring an object to the mouth after surgery. No patient had a postoperative infection and there were no cases of nerve palsy. All cases demonstrated a better range of motion despite a poor healing index in the present series. Our novel technique can be performed for cases with mild radial deficiency and with mild radius deficiency including growth plate injuries.