Radial Longitudinal Deficiency Research Articles

Long-term follow-up for the atypical radial longitudinal deficiency: A case report.

We experienced an atypical case of radial longitudinal deficiency that did not fit into any classifications, including Blauth. The patient had a bilateral hypoplastic thumb, in which the index and middle fingers were missing in the right hand. We performed surgeries in four stages: centralization of the right hand, opponensplasty of the right thumb, opponensplasty of the left thumb, and distraction lengthening of the right ulnar. Twenty-five years after the initial treatment, the patient was satisfied with the treatment and had no significant difficulty with activities of daily living.

The Effects of Radial Longitudinal Deficiency on Long-Term Use of the Thumb in Pediatric Patients Following Index Pollicization

To assess the effect of radial longitudinal deficiency on the function of pollicized digits as determined by the Thumb Grasp and Pinch (T-GAP) assessment. We retrospectively evaluated 25 hands with thumb hypoplasia that underwent index finger pollicization. Patients were followed for an average of 10.4 years. Hands were divided by severity into two groups: no or mild radial longitudinal deficiency (RLD) (Group 1= 16) and moderate to severe RLD (Group 2= 9). We collected demographic information and completed physical examination measures, including hand strength, elbow, wrist, and hand range of motion, the Kapandji opposition score, active grasp span, and T-GAP total score. Patients with moderate to severe forms of RLD had stiffer long fingers, lower Kapandji opposition scores, and limited active and passive range of motion for elbow flexion, wrist ulnar deviation, and pollicized thumb interphalangeal flexion. They had shorter forearms, decreased active grasp span, and fewer thumb creases at the interphalangeal thumb joint. In addition, the T-GAP total score was significantly lower when comparing the two groups. Children with mild dysplasia were able to achieve 32% of age-matched normal grasp strength. Patients with more severe radial dysplasia averaged 17% less grasp strength compared with children with mild dysplasia. Patients with moderate to severe RLD also had lower T-GAP total scores and strength measurements if they had limited wrist ulnar deviation. Individuals with moderate to severe RLD have unique anatomical factors that affect outcomes after pollicization. These individuals use their thumbs for fewer activities, have weaker grasp, and retain more primitive grasp patterns compared with those who have milder forms of RLD. Prognostic IV.

Congenital Upper Limb Differences: Current Concepts over 5 Years of Literature.

➤ The Oberg-Manske-Tonkin (OMT) classification of congenital hand and upper-limb anomalies continues to be refined as our understanding of the genetic and embryonic etiology of limb anomalies improves.➤ We have conducted an evaluation of graft and graftless techniques for syndactyly reconstruction; strengths and drawbacks exist for each technique.➤ Treatment for radial longitudinal deficiency remains controversial; however, radialization has shown promise in early follow-up for severe deformities.➤ Recent emphasis on psychosocial aspects of care has demonstrated that children with congenital upper-limb differences demonstrate good peer relationships and marked adaptability.

Satisfactory thumb metacarpophalangeal joint stability after ligament reconstruction with flexor digitorum superficialis in children with radial longitudinal deficiency.

We investigated thumb joint stability and patient-reported and functional outcomes a minimum of 1 year after flexor digitorum superficialis opponensplasty and ligament reconstruction in 23 thumbs of 20 consecutive children with radial longitudinal deficiency. In total, 15 thumbs had preoperative multidirectional instability in the metacarpophalangeal joint. We reconstructed 22 ulnar and 16 radial collateral ligaments. At follow-up, all the metacarpophalangeal joints were stable ulnarly. Seven metacarpophalangeal joints were unstable radially despite ligament reconstruction but had no related complaints. We recommend the flexor digitorum superficialis opponensplasty as a safe and reliable procedure in hypoplastic thumbs to create stability and augment thumb strength.Level of evidence: IV.

Clinical evidence of the association between radial longitudinal deficiency and radial polydactyly: a case series.

Radial longitudinal deficiency (RLD) is commonly associated with thumb hypoplasia. The association between RLD and radial polydactyly (RP) is uncommon, but case reports or case series have been reported. We report our experience of managing patients with this association. A total of 97 patients with RLD were seen in our department, of which six were children with concomitant RLD and RP. Four children had both RLD and RP in the same limb; of them, three also had RLD in the contralateral limb. The mean age at presentation was 11.6 months. Awareness of this association alerts the clinician to look for RLD in the presence of RP and vice versa. This case series supports recent experimental and clinical evidence that RP and RLD may be part of the same developmental spectrum. Further studies may guide its inclusion as a possible new category in the Oberg-Manske-Tonkin (OMT) classification of congenital upper-limb anomalies.Level of evidence: IV.

Outcomes of radialization with ulnar cuff osteotomy for radial longitudinal deficiency: a medium-term follow-up study.

Addressing the deforming stresses arising from soft tissue and continued skeletal development is crucial to obtain long-term correction of forearm carpal alignment in Radial longitudinal deficiency. The aim of the present study was to report the medium-term follow-up results of radialization with ulnar cuff osteotomy in children. A total of 17 patients (21 involved limbs) with a mean follow-up of 66 months (range 50 to 96) were reviewed. Mean correction of the hand forearm angle at the final follow-up was 51°. Mean hand forearm position preoperatively and at the final follow-up were -1.1 cm (SD 0.9) and +1.3 cm (SD 0.8), respectively. This metaphyseal osteotomy relaxed the radial structures throughout the original phase of deformity correction. The mean ulnar growth was 62% of the contralateral side at the final follow-up. Our technique may provide a feasible solution to the correction and prevent recurrence of deformity while maintaining ulnar growth in the medium to longer term.Level of evidence: III.

Age-related changes in patients with upper limb thalidomide embryopathy in the United Kingdom.

We report the long-term upper limb disability, health-related quality of life (HRQoL), functional impairment, self-perception of appearance and prevalence of neuropathic pain in patients with upper limb thalidomide embryopathy in the United Kingdom. One-hundred and twenty-seven patients responded to our electronic questionnaire. Mean Quick Version of the Disabilities of Arm, Shoulder, and Hand score was 54.3 (SD 22.6). Median EuroQoL 5-Dimension 5-Likert index, Work and Social Adjustment Scale, Derriford Appearance Scale 24 and Neuropathic Pain Scale were 0.6 (IQR 0.4 to 0.7), 15.5 (IQR 8.0 to 23.5), 35.5 (IQR 28.0 to 50.5), and -0.8 (IQR -1.4 to 0.8), respectively. Thirty-three patients (26%) reported neuropathic pain. Finger changes associated with radial longitudinal deficiency were an independent predictor of more severe upper limb disability. Eighty-nine patients (70%) reported deteriorating HRQoL with increasing age. Patients with upper limb thalidomide embryopathy experience age-related worsening of symptoms and function, highlighting the need for ongoing specialist care and support.Level of evidence: IV.

Thumb hypoplasia in children: A case report

Thumb hypoplasia is a component of radial longitudinal deficiency. The severity of hypoplasia can range from a slightly smaller thumb to a complete absence. They are often categorised using Blauth classification to recommend appropriate treatment. Type II is characterised by the first web-space narrowing, underdeveloped or absence of thenar muscles, thumb extrinsic and metacarpophalangeal joint instability. The author reviews a 7-year-old male patient who visits the hospital due to a small thumb, narrowing web I-II and limiting to flexing the interphalangeal joint. He underwent a first web-space release using flap Z-plasty, stabilised the metatarsal joint and opponensplasty transfer of the flexor digitorum superficialis of the IV finger to increase the opposition of the thumb. Results were assessed according to subject and object criteria. The author proposed that this technique could be reliable for treating other cases with thumb hypoplasia type II and IIIB.

The unsolved problem of radial longitudinal dysplasia: how can we reliably prevent recurrence, preserve growth and optimize function?

Congenital radial longitudinal dysplasia remains an 'unsolved problem' in hand surgery. The challenges presented by the skeletal deficiency of the distal radius and soft tissue dysplasia of the severe radial longitudinal deficiency have been addressed by a number of techniques that aim to stabilize the position of the hand relative to the forearm and optimize forearm growth and hand function. Analysis of hand function and position in these children is difficult because of the abnormal 'wrist' mechanics, and the published results of the techniques used to date often lack a standardized approach and importantly the perception of function from the patient's perspective. The existing data is reviewed and compared with the results of cohorts from two major congenital upper limb centres. Soft tissue distraction prior to radialization or centralization may offer benefit in ulnar growth and forearm length but there is a need for further research into the long-term functional outcomes of the various techniques available to determine the optimal choice for these children.Level of evidence: V.

Etapna rekonstrukcija radijalnog longitudinalnog deficita sa aplazijom palca - prikaz slučaja i pregled literature

Purpose: Presentation of surgical treatment of a girl with type IV radial longitudinal deficiency and type IV thumb hypoplasia as well as review of the most relevant literature published in the previous 25 years. Methods: The treatment consisted of placement of an external fixator and subsequent distraction in the radioulnar and proximodistal axis as the initial procedure followed by radialization according to Buck-Gramcko around the 2nd birthday, 10 weeks after the primary procedure. The last step of the treatment was a pollicization of the index finger performed before the 4th birthday. Results: The surgical treatment resulted with a very favorable outcome – a clinically stable wrist, radiologically well aligned carpus over the ulna and an index pollicised in such a manner that enables adequate opposition to the other fingers. Conclusion: A review of literature in the last 25 years shows that radialization of the ulna with a preceding distraction offers benefits over centralization alone. Distraction of the wrist protects the distal ulnar growth plate and thus promotes growth. Soft tissue release with a bilobar flap can also provide a good outcome as wells as a microvascular joint transfer from the 2nd toe whereas the latter requires advanced microsurgical skills.

Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome.

The aim of this study was to evaluate the results of 2-stage treatment of upper and lower extremity deformities in patients with thrombocytopenia absent radius syndrome. Four patients (3 female, 1 male) with a mean age of 1.8 years (range 1-4) were included in the study. The patients were followed up for an average of 5.5 years. All 4 patients had bilateral radial longitudinal deficiency, whereas only 2 patients had bilateral fixed knee contractures. A 2-stage surgical procedure was implemented. The surgical procedure performed for radial longitudinal deficiency consisted of distraction with an Ilizarov frame in the first stage, followed by centralization performed in the second stage. Knee contractures were first treated using an Ilizarov frame, followed by a hamstring tendon transfer in the second procedure. Radiological evaluation of the radial longitudinal deficiency was done by measuring hand-forearm angle, hand-forearm position, and ulnar bowing preoperatively and at postoperative follow-ups. Knee contracture was evaluated by measuring the angle preoperatively and at postoperative follow-ups. The mean hand-forearm angle values of patients at preoperative assessment, early postoperative period, and at the last follow-ups were 82.60, 5,80, and 11.10, respectively (P < .001). The hand-forearm position values were -14.25 mm, +11, and +7.1 mm, respectively (P < .001). The ulnar bowing values were 7.3°, 4.5°, and 2.9°, respectively (P < .001). Recurrence of the radial longitudinal deficiency deformity requiring surgery occurred in 1 patient. In the other 3 patients, some deformity recurred but did not require surgical intervention. In addition, 1 patient with knee flexion contracture had a recurrence of the contracture that did not require surgical intervention. There was no circulatory disorder or skin necrosis in the lower or upper extremities of the patients. This study has shown us that two-stage treatment is a reliable method for lower and upper extremity deformities accompanying thrombocytopenia absent radius syndrome. However, recurrence is still a major problem. Level IV, Therapeutic Study.

A new incision in the correction of radial longitudinal deficiency: The double Y sliding flap approach

One concern in the surgical treatment of radial longitudinal deficiency (RLD) is certainly the skin incision. Over the years many different types have been proposed and used. We propose a new skin incision technique: a double Y sliding flap with the main body along the dorsal wrist crease, followed by raising a proximal and a distal flap providing wide access to the dorsal surface of the wrist joint. After correction of the wrist deformity, skin triangles are resected on the radial and ulnar sides of the incision. Then the skin of the distal flap is slid radially and proximally, filling the defect left by the resected radial triangle, while the proximal flap is slid in the opposite direction, enabling transverse closure along the ulnar side of the incision. The final scar comprises a central body along the dorsal wrist crease, and a radial branch. The aim of this study was to analyze the clinical results of this new double Y sliding flap approach for the surgical treatment of type III and IV RLD. We retrospectively reviewed medical records of surgical correction of RLD using our new incision, between January 2016 and December 2018 in our department of hand surgery. Endpoints comprised correction of redundant skin, scar appearance, and complications. Twelve limbs in 9 patients treated with this double Y sliding flap approach were reviewed: correction of redundant skin was systematic, only 2 limbs showed postoperative complications (1 case of notable edema and 1 of delayed wound healing), and scar aspect was graded good in 11 of the 12 cases. The double Y sliding flap was safe, with minimal complications, adequate skin restoration, wide exposure of the wrist, and esthetically good scar. Level of evidenceIV

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.

First dorsal interosseous muscle transfer to restore opposition of the new thumb after index pollicization: anatomical description of an original technique and case report

Index pollicization in severe thumb hypoplasia or aplasia in children or for the reconstruction of a mutilated thumb in adults is a rare and technically demanding procedure. Weakness of the new thumb is routinely reported after index pollicization. An inappropriate position of the first dorsal interosseous muscle (FDIM) can partly explain this strength deficit. Here, we report an original anatomical study on FDIM transfer for reanimation of the new thumb’s opposition function and its clinical application. An anatomical study was carried out on three upper limbs from fresh, non-embalmed adult cadavers. We demonstrated the feasibility of an FDIM transfer pedicled on the proper FDIM artery and the deep branch of the ulnar nerve. The proximal FDIM insertions were sutured to the lateral border of the flexor retinaculum to recreate the superficial thenar musculature. This procedure was performed on a 52-year-old man who was referred to us with swelling on his hand. We discovered a myxoid inflammatory fibroblastic sarcoma of the thumb that required proximal thumb amputation while preserving the base of the first metacarpal. To our knowledge, this is the first description of FDIM pedicled flap transfer during an index pollicization procedure among an adult population. However, in severe thumb hypoplasia or aplasia cases, this procedure is limited by the size and anatomical variations of the neurovascular structures among a population affected by radial longitudinal deficiency.

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

&lt;p&gt;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.&lt;/p&gt;

Histopathological, Ultrastructural, and Immunohistochemical Findings in Radial Longitudinal Deficiency: A Prospective, Observational Study

To report the histopathological, electron microscopic, and immunohistochemical findings of tissue samples obtained from patients with radial longitudinal deficiency (RLD) and investigate the contribution of abnormality in soft tissues as a secondary driver of deformity in RLD. Specimens from radial-sided muscles and tendons were obtained at the time of surgery (either radialization or centralization) from 14 patients with 16 limbs affected with Bayne type 3 and type 4 RLD. The specimens were evaluated using light microscopy, electron microscopy, and immunohistochemical examination. Among the 16 frozen muscle specimens, 6 (37%) showed normal muscle, while 10 (63%) showed the presence of atrophic fibers. The 6 cases with normal muscle showed no abnormality in fiber type distribution. Six patients showed predominance of type 1 muscle fibers. None of the specimens had myofibroblasts; 4 of 16 specimens had mast cells, and 9 of 16 specimens showed the presence of platelet derived growth factor-positive cells. Features of myofibroblasts (the presence of basal lamina, intercellular junctions, or pinocytic vesicles) were not identified in any specimen on electron microscopy. The histopathological, electron microscopic, and immunohistochemical findings, in particular the absence of myofibroblasts, in tissue samples obtained from patients with RLD, do not support the assumption of abnormality in soft tissues as a secondary driver of deformity in RLD. This study provides a preliminary insight into a possible role of soft tissues in the development of the deformity in RLD.

Double Vascularized Fibula Proximal Growth Plate Transplantation: Novel Technique for the Radial Longitudinal Deficiency (RLD) Grade IV Reconstruction.

Radial absence or severe hypoplasia in radial longitudinal deficiency (RLD) is most commonly treated through stabilization of the carpus on the ulna (centralization or radialization) with or without preliminary distraction. Alternative methods include bone transfer to replace the absent or deficient radius using the proximal fibula, vascularized or nonvascularized, and more recently the transfer of a vascularized second metatarsophalangeal joint. There is paucity of articles suggesting vascularized fibula growth plate transfer for RLD grade III where proximal part of radius can be found and none about double fibular growth plate transplantation. We developed new technique a bilateral growth plate transplantation for the pediatric patient with unilateral RLD stage IV (Bayne and Klug). Totally 2 patients were operated using new technique. No vascular problems occurred and no peroneal nerve damage were observed at the follow-ups. Annual growth was determined on x-rays at the 1 and 2-year follow-ups measuring 0.75 to 0.9 cm with open growth plates. The x-rays also show no changes that can harm the long-term growth potential in the forearm, demonstrating this technique's capacity to achieve better results for forearm length and functionality in comparison to the Vilkki procedure or radialization operation and there is no need to sacrifice second toe. Thumb reconstruction can be done at age 3 or 4 years using pollicization or toe-to hand transplantation techniques. The patients and parents are satisfied with functional and esthetic outcomes. We believe the double fibular growth plate transplantation is a promising method to use to reconstruct unilateral RLD grade IV.

Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register.

Children with a congenital upper limb difference (CoULD) are a diverse group who often require multidisciplinary care and long-term support for functional and social impacts. The Australian Hand Difference Register (AHDR) provides a national database of children born with a CoULD and aims to facilitate research and improve health care for affected children. Using data from the first 3 years of its operation, we analysed the demographic and clinical features of participating families, including type of CoULDs and the frequency of pre-natal and syndromic diagnoses. Families were recruited from tertiary plastic surgery, orthopaedic and genetics clinics, as well as by self-referral. Hand differences were classified by the consulting physician according to the Oberg-Manske-Tonkin classification system. Primary carers were invited to complete an online questionnaire covering demographic information, pregnancy and newborn outcomes and diagnostic details. Between August 2017 and September 2020, 822 families consented and 320 questionnaires were reviewed. CoULDs were detected pre-natally in 66 (20.6%) and post-natally in 248 children (77.5%); data for 6 (1.9%) children were missing. The most common CoULDs were radial polydactyly, symbrachydactyly with ectodermal elements and radial longitudinal deficiency, hypoplastic thumb. Twenty-seven children (8.4%) had an associated syndrome, 7 diagnosed pre-natally and 19 post-natally; the most common were VACTERL association, Poland anomaly, Holt-Oram and ectrodactyly-ectodermal dysplasia-clefting syndromes. The AHDR is a valuable resource for understanding the relative frequencies of CoULDs. Participation will assist future research into the diagnostic journeys of children with CoULDs, including risk factors, diagnosis and psychosocial impacts.

Outcome After Pollicization for Congenital Thumb Deficiency: A Cohort Study of Cases in a Single Unit, 1987 to 2016

To investigate the functional and aesthetic outcomes in a cohort with pollicizations performed due to congenital anomalies in our hospital. From 1987 to 2016, we performed pollicizations in 32 hands of children aged 1 to 8 years (median, 2 years). We followed-up on 31 of the hands from 1 to 31 years (median, 10 years) after the procedure. The participants and their caregivers self-assessed their function and appearance with visual analogue scales and patient-reported outcome measures (Patient-Reported Outcomes Measurement Information System Pediatric Upper Extremity; the short version of the Disability of Arm, Shoulder and Hand Outcome Measure; and EQ-5D-3L). We examined the hands with regard to motion, strength, sensitivity, and function. There were 2 complications and 6 reoperations. Participants with mild anomalies (radial longitudinal deficiency Bayne type N/0 to 2) had better subjective and objective hand function than participants with severe anomalies (radial longitudinal deficiency Bayne type 3-4, ulnar dimelia, 5-finger hand). Hands with preoperatively near-normal index fingers had, in most cases, good thumb opposition and pinch, and hands in both groups benefited from the creation of a cylinder grip. Grip and pinch strength were lower than reported in cohort studies where an additional opponensplasty had been performed. Hands with severe congenital anomalies also benefited from the procedure. We recommend a simplified follow-up program to identify cases where additional surgeries to enhance strength should be considered during growth of the child. Therapeutic IV.

Assessing the Usability of Flexor Digiti Minimi Muscle for Opponensplasty: An Anatomic Study

The abductor digiti minimi (ADM) and flexor digiti minimi (FDM) muscles have a similar vascular and nerve supply. The purpose of this study was to assess the feasibility of transferring the FDM instead of ADM for thumb opposition. Thirty cadaver hands were dissected under loupe magnification to assess the presence of the ADM and FDM muscles as well as their blood and nerve supply. The length of these muscles and their location in relation to the radial aspect of the thumb metacarpophalangeal joint were assessed. The ADM muscle was present in all cadavers whereas the FDM muscle was absent in 33% of hands. When the dimensions were suitable (53%), the more radially located FDM muscle reached the thumb metacarpophalangeal joint more easily. Although the dissections revealed considerable variability in FDM anatomy, when present, it can have positional advantage over the ADM for opponensplasty. In some cases with radial longitudinal deficiency, preservation of ADM function is essential. In these children, the FDM can potentially be explored and transferred if it is found to be suitable.