Radial Longitudinal Deficiency Research Articles

Postoperative Patient- and Parent-Reported Outcomes for Children with Congenital Hand Differences: A Systematic Review.

Patient- and parent-reported outcomes are increasingly considered as measures of treatment effectiveness for congenital conditions. The authors' specific aim was to review the use of patient- and parent-reported outcomes of quality of life, activities of daily living, perception of hand appearance, and satisfaction after reconstruction for congenital hand differences. The authors reviewed articles addressing congenital hand differences from PubMed, MEDLINE, and EMBASE published between January of 1966 and October of 2016. The authors excluded studies that did not include reconstruction or lacked patient- or parent-reported outcomes. Investigators reviewed 48 studies and extracted the following: study type, level of evidence, type of congenital hand differences, sample size, procedure performed, length of follow-up, and domains and results of patient-satisfaction questionnaires. Multiple studies across several types of congenital hand differences showed that a majority of patients and parents report improvements and are satisfied with postoperative outcomes. However, there were several patient cohorts (e.g., thumb duplication, thumb hypoplasia, radial longitudinal deficiency) who expressed dissatisfaction with outcomes and continue to experience decreased health-related quality of life. Overall, patient satisfaction and reports of health-related quality of life among children with congenital hand differences are favorable. Patients seem to cope and adapt well, but teasing and social relationships remain problematic, particularly as children enter school. This article highlights addressing these concerns before embarking on reconstruction.

Bone Lengthening in the Pediatric Upper Extremity.

➤Bone lengthening has been used successfully for several congenital and acquired conditions in the pediatric clavicle, humerus, radius, ulna, and phalanges.➤Common indications for bone lengthening include achondroplasia, radial longitudinal deficiency, multiple hereditary exostosis, brachymetacarpia, symbrachydactyly, and posttraumatic and postinfectious growth arrest.➤Most authors prefer distraction rates of <1 mm/day for each bone in the upper extremity except the humerus, which can safely be lengthened by 1 mm/day.➤Most authors define success by the amount of radiographic bone lengthening, joint motion after lengthening, and subjective patient satisfaction rather than validated patient-related outcome measures.➤Bone lengthening of the upper extremity is associated with a high complication rate, with complications including pin-track infections, fixation device failure, nerve lesions, nonunion, fracture of regenerate bone, and joint dislocations.

Oligodactyly with Thumb.

Oligodactyly of the hand is one of the rarest congenital anomalies of upper extremities and defined as the presence of fewer than five fingers on a hand. Although it usually occurs in association with hypoplasia or absence of ulna, it can occur without abnormality of the forearm bones. The purpose of this study is to present clinical features and radiographic characteristics of hand oligodactyly with thumb. Five patients of oligodactyly with thumb who showed normal forearm bones, were evaluated. Two patients had threefingered hand with thumb, and three had two-fingered hand with thumb. We analyzed associated abnormalities of carpal and metacarpal bones and measured the lengths of radius and ulna, and width of the wrist on the simple radiographs. We also devised new classification system of oligodactyly based on the thumb deformities and locations of missing digits. Syndactyly among fingers was associated in four patients, clinodactyly caused by delta bone in one, hypoplasia of the thumb in one, camptodactylies in one, symphalangism in one, and radial head dislocation in one. Considering the abnormalities of the carpal bones, the missing digits were presumed to be ulnar-sided digits in two patients, central digits in one patient and both ulnar-sided and central digits in two patients. In patients with missing of central digits, an adjacent metacarpal was hypertrophied. Although the ulnar variances were within normal range, the average lengths of radius and ulna were 6% and 5% shorter than those of contralateral normal side. The average width of the wrist was 9% narrower than that of contralateral normal side. Syndactyly and hypertrophied metacarpal were most commonly observed findings in the oligodactyly with thumb. Although oligodactyly with thumb may be a type of ulnar longitudinal deficiency, however, it can also be a type of central deficiency or combined type of ulnar longitudinal deficiency with central deficiency or radial longitudinal deficiency. We suggest a classification system of oligodactyly with thumb based on locations of missing digits and associated thumb deformities.

Severity Grading and Estimation of Hand Quality in Radial Club Hand Evaluation

Hypothesis: Bayne-Klug classification for Radial Club Hands is based on skeletal defects. Hand quality and functional capacity differ considerably inside Bayne-Klug types III and IV. A detailed Severity Grading is the key for proper evaluation of radial longitudinal deficiency (RLD). Methods: Systematic preoperative assessment was used in a series of 44 radial club hands in 32 patients. There were 34 Bayne-Klug type IV hands, 7 Bayne-Klug type III hands, and 3 Bayne-Klug type II hands, according to x-ray findings. Analysis of the function of fingers, hand, wrist, elbow, and shoulder was done. A chart was filled assuming that severity of different findings is negatively related to hand quality and to overall functional capacity. Presented Severity Grading gives 10 severity points for Hand quality (H), 10 points for Wrist tightness (W), and 10 points for Proximal functional defects (P). Combined severity scores, named as Severity Index for Radial Club Hand, are comparable when using the sum of Hand and Wrist scoring and adding the value of proximal lesions separately. Results: Radial Club Hands could be scored into three groups: (1) Mild: H + W + P gave 4 to 8 severity points (in mean, 5.8). There were 8 (18%) radial club hand (RCH) extremities. Proximal (P points in mean, 1.1) lesions were very rare in these extremities. (2) Moderate: H + W + P gave 9 to 16 severity points (in mean, 11.5). There were 21 (48%) RCH extremities. Mild proximal (P points in mean, 2.2) lesions were found. (3) Severe: H + W + P gave 17 to 30 severity points (in mean, 21.1). This group had 15 (34%) RCH extremities. Proximal (P points in mean, 5.4) lesions were found in all extremities. In repeated x-ray studies, a weakness in Bayne-Klug classification was noticed as the type IV will change during the growth very often into type III. In our series, the change due to ossification of the early invisible proximal radius occurred in 41% of forearms in the group of 19 patients followed over 11 years. Summary Points: Severity Index, a sum of severity points for Hand quality, Wrist tightness, and Proximal lesions, is a new evaluation criteria for RCH. Severity grading of Radial Club Hands improves assessment of functional prognosis, treatment planning, and comparison of similar extremity groups before and after treatment. Bayne-Klug classification appears to have a particular weakness because type IV will often change into type III during the growth.

A Direct Measure of Thumb Use in Children after Index Pollicization for Radial Longitudinal Deficiency: Level 4 Evidence

A Direct Measure of Thumb Use in Children after Index Pollicization for Radial Longitudinal Deficiency: Level 4 Evidence

Ulna Growth Patterns After Soft Tissue Release With Bilobed Flap in Radial Longitudinal Deficiency.

Centralization is commonly utilized for treating the severely deviated wrist in radial longitudinal deficiency (RLD). Individuals with RLD have congenital shortening of the ulna and previous studies have shown that traditional centralization, in particular with notching of the carpus, results in additional ulnar growth retardation. At our institution, we use a technique of soft tissue release with bilobed flap. We examined if this technique preserves the growth potential of the distal ulna, therefore, avoiding an additionally shortened forearm. We retrospectively reviewed serial radiographs of 16 patients with 18 wrists who had at least 3 years of follow-up after a soft tissue release with bilobed flap. Radiographic lengths were measured using the method described by Heikel. Percentage of normal growth was calculated using normative data published by Maresh. Comparisons were made with preoperative, postoperative, and final follow-up studies. The average length of follow-up was 9.2 years (range, 3 to 16.3 y) with an average age of 11.6 years (range, 5.2 to 17.5 y). The average age at the time of surgery was 27 months (range, 14 to 48 mo). A minimum of 3 radiographic studies were available for each subject. The average ulna length preoperatively was 63.9% of age-matched normal length (51.4% to 75.3%). The average ulna length at final follow-up was 61.9% of age-matched normal length (48.5% to 70.3%). The difference was not statistically significant. In addition, there were no distal ulnar physeal arrests. Soft tissue release with bilobed flap does not affect ulna growth like traditional centralization procedures can. This procedure has previously been shown to retain motion and have similar recurrence rates to formal centralizations. Therefore, we advocate that it be considered more widely for use in patients with RLD and significant wrist deviation to maximize growth and improve hand position. Soft tissue release with bilobed flap can be safely used on young children and preserve ulnar growth. Level IV-therapeutic.

Centralization of Radial Club Hand

Radial club hand, often referred to as radial longitudinal deficiency (RLD), is a rare congenital condition characterized by an underdevelopment and malformation of the radial side structures of the forearm and hand. The anomaly, first described by Petit in 1733, is characterized by a significant shortening of the forearm, radial angulation of the wrist, impaired range of digital motion and limited strength in pinch and grip. In addition, the thumb is always affected with a varying degree of hypoplasia or aplasia. It, encompasses a collection of congenital deformities characterized by hypoplasia of bones, joints, muscles, tendons, ligaments, nerves, and vasculature on the radial aspect of the forearm [1,2]. Radial club hand is a rare condition, occurring in approximately 1 in every 30,000 live births, with a slightly increased incidence in males. The anomaly occurs bilaterally 50% of the time, and is frequently asymmetrical [3].

Defining Features of the Upper Extremity in Holt-Oram Syndrome

To investigate the distinguishing morphological characteristics of children with radial longitudinal deficiency (RLD) in Holt-Oram syndrome (HOS). One hundred fourteen involved extremities in 62 patients with a diagnosis of HOS were identified at 3 institutions. Medical records and radiographs were evaluated. Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when possible. Other unusual or distinguishing characteristics were catalogued. There was bilateral involvement in 84% of patients. The forearm was involved in 81% of the extremities and a shortened distal radius (Bayne and Klug type I RLD) was the most commonly identified forearm anomaly (40%). Radioulnar synostosis was present in 15% of the extremities, all in the proximal forearms with reduced radial heads. Thumb aplasia (Blauth type V hypoplastic thumb) was the most common type of classifiable thumb abnormality and occurred in 35% of involved thumbs. Twenty-seven percent of abnormal thumbs affected were not classifiable according to the Blauth classification, and 19% of involved thumbs (hypoplastic or absent) had first-web syndactyly. The upper extremity in HOS differs from the typical presentation of RLD. The forearm is more often involved and may demonstrate radioulnar synostosis. The thumb is frequently unclassifiable by the Blauth classification and has first-web syndactyly. The presence of radioulnar synostosis and syndactyly of the radial 2 digits in RLD should prompt the hand surgeon to obtain a cardiac evaluation and consider genetic testing for HOS. Diagnostic III.

Prenatal Detection of Upper Limb Differences With Obstetric Ultrasound

To determine the sensitivity, specificity, and predictive values of prenatal ultrasound detection of fetal upper extremity anomalies at a single tertiary care center in a large patient cohort. Our secondary purpose was to assess factors affecting prenatal detection including the presence of associated anomalies. We performed a retrospective review of prenatal ultrasound and postnatal clinical records from each pregnancy evaluated with a prenatal ultrasound at the Washington University Department of Obstetrics and Gynecology over a 20-year period. We searched for upper extremity anomaly diagnosis codes pre- and postnatally and correlated with clinical postnatal follow-up to determine prevalence, sensitivity, specificity, predictive values, and associated conditions. A total of 100,856 pregnancies were evaluated by prenatal ultrasound, which included 843 fetuses diagnosed with a musculoskeletal anomaly (prevalence, 1 of 120) and 642 with an upper extremity anomaly (prevalence, 1 of 157). The postnatally confirmed sensitivity for prenatal ultrasound detection of an upper extremity anomaly was 42%. Sensitivity was lower in cases isolated to the upper extremity (25% vs 55%). Sensitivity was highest for conditions affecting the entire upper extremity (70%-100%) and lowest for those affecting the digits alone (4%-19%). Fetuses with limb reduction defects, radial longitudinal deficiency, phocomelia, arthrogryposis, abnormal hand positioning, and cleft hand had a higher likelihood of having an associated anomaly. At our tertiary referral center, there was a notable prevalence of upper extremity anomalies; however, the overall sensitivity for detecting them with prenatal ultrasound was low. This was disappointing given the value of prenatal identification of anomalies for parental counseling. Prenatal diagnosis of anomalies affecting the entire upper limb was more reliable than diagnosis of more distal anomalies. Diagnostic III.

Results of pollicisation: what works and what doesn’t

The aim of pollicisation is to provide a strong, stable and mobile thumb of optimal size and shape. The controlling factors are the quality of the index finger, the quality of the adjacent digits and the stability and mobility of the wrist, all of which will be compromised by hypoplasia of bones, joints and soft tissues. However, even a stiff, bent, hypoplastic index finger accompanying a forearm radial longitudinal deficiency is used as a thumb for some activities, albeit in a modified manner. Assessment modalities include those of strength, pinch and grip, mobility, functional tests such as the Jebsen timed test, and documentation of thumb use for small, medium and large sized objects. A number of factors relating to technique will assist the surgeon in obtaining optimal results:

Soft Tissue Release and Bilobed Flap for Severe Radial Longitudinal Deficiency

To report the hand position, range of motion, functional results, and radiographic outcomes associated with treating radial longitudinal deficiency with release of constricting or deforming soft tissue and resurfacing of the radial skin deficiency with a bilobed flap. We recalled and reviewed patients with at least a 3-year follow-up who had undergone soft-tissue release and coverage with a bilobed flap. The study group consisted of 16 patients and 18 wrists. All patients underwent follow-up examination and radiographs. Outcome measures using Pediatric Outcomes Data Collection Instrument (PODCI), Disabilities of the Arm, Shoulder, and Hand (DASH), and visual analogue scale (VAS) scores were recorded. At a mean of 9.2 years follow-up, the average final resting wrist radial deviation angle was 64° compared with 88° preoperatively. The average active wrist flexion-extension arc was 73°. Average DASH score was 27 (range, 5-54). PODCI global was 88 (range, 75-97), PODCI happiness was 86 (range, 70-100), and VAS overall satisfaction (range, 0-10) was 1.2 (range, 0-8). At final follow-up, no physeal growth arrests were noted on radiographs, and no patients to date have required ulnocarpal arthrodesis. Soft-tissue release and coverage with a bilobed flap should be considered in the treatment algorithm for patients with radial longitudinal deficiency. Outcome measures show that these patients maintain useful active motion, and along with their parents, are satisfied with both the appearance and function. Some recurrence of radial deviation was noted, which was similar to results previously reported following centralization/radialization procedures, although with a lower inherent risk of both physeal injury to the ulna and stiffness. In addition, potential future procedures are not compromised by this surgical approach. Therapeutic IV.

Vascularized proximal fibular epiphyseal transfer for Bayne and Klug type III radial longitudinal deficiency in children.

Treatment of Bayne and Klug type III radial longitudinal deficiency with fibular epiphyseal transplantation in children has had limited success to date. The purpose of this investigation was to review the authors' results of microvascular epiphyseal transplantation for radial longitudinal deficiency. Between 2007 and 2009, four children with a mean age of 4.3 years (range, 3.3 to 5.8 years) who had a type III radial longitudinal deficiency underwent microsurgical reconstruction of the distal radius with vascularized proximal fibular transplantation, including the physis, partial superior tibiofibular joint, and a variable length of the diaphysis. All of the grafts were supplied by the inferior lateral genicular artery. In all patients, the range of motion of the digits, wrist, forearm, and elbow; the length of the forearm; and the deviation of the wrist were evaluated. The mean duration of follow-up was 42 months (range, 24 to 65 months). All four transfers survived and united with the host bone within 3 months postoperatively. An average correction of 28 degrees in the hand-forearm angle was obtained. Forearm length was 67.9 percent that of the normal side on average at the final follow-up. The overall range of wrist motion was approximately 55 percent that of the contralateral extremity. No major complications were observed. Vascularized proximal fibular epiphyseal transfer, based on the inferior lateral genicular artery, is a technically feasible method for treatment of type III radial longitudinal deficiency, which maintains hand-forearm alignment, provides excellent function, and minimizes the length discrepancy between the distal radius and ulna. Therapeutic, IV.

Hand Function in Adults with Radial Longitudinal Deficiency

Functional impairment in individuals with radial longitudinal deficiency can be influenced by several factors, including a short and bowed forearm, radial deviation of the wrist, a non-functional or absent thumb, limited finger motion, and impaired grip strength, but their relationship with activity and participation in adults with radial deficiency is not known. Twenty individuals, eighteen to sixty years of age, who had Bayne type-II to V radial longitudinal deficiency, were examined in the context of the International Classification of Functioning, Disability and Health. Body function and structure were evaluated by measures of range of motion, grip strength, key pinch, sensibility, and radiographic parameters. Activity was evaluated by the Box and Block Test and the Sollerman test, and participation was evaluated by QuickDASH (the short form of the Disabilities of Arm, Shoulder and Hand outcome measure) and by the Medical Outcomes Study 12-Item Short Form Health Survey. Statistical correlations among assessments of body function and structure, activity, and participation were examined. The mean total active motion of the wrist (43°) and mean total active motion of the digits (377°) were less than the norms. The mean radial deviation of the wrist was 31°. The mean grip strength (4.0 kg), key pinch (1.4 kg), and scores for the Box and Block Test (55 blocks per minute) and the Sollerman test on hand function (56 points) were considerably lower than the norms. The mean scores were 18 points for QuickDASH, 51 points for Short Form-12 physical component summary, and 53 points for Short Form-12 mental component summary. Significant relationships were found between the Box and Block Test and grip strength (p = 0.012), key pinch (p < 0.001), and total active motion of digits (p < 0.001); between the Sollerman test and the total active motion of elbow (p < 0.001) and the total active motion of digits (p < 0.001); between the QuickDASH and forearm length (p < 0.001), the total active motion of elbow (p = 0.001), and the total active motion of digits (p < 0.001); between the Short Form-12 physical component summary and grip strength (p = 0.016), forearm length (p < 0.001), total active elbow motion (p < 0.001), and total active digit motion (p < 0.001); and between the Short-Form-12 mental component summary and radial deviation of the wrist (p = 0.019). No significant correlations were found between the radiographic measurement of the radial deviation of the wrist (total forearm angle) and the Box and Block Test (p = 0.244), the Sollerman test (p = 0.775), QuickDASH (p = 0.156), Short Form-12 physical component summary (p = 0.107), or Short Form-12 mental component summary (p = 0.129). In individuals with radial longitudinal deficiency, grip strength, key pinch, forearm length, and elbow and digital motion seem to be more important for the individual's activity and participation than the radial angulation of the wrist. Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

The Effect of Soft Tissue Distraction on Deformity Recurrence After Centralization for Radial Longitudinal Deficiency

To assess recurrence and complications in children with radial longitudinal deficiency treated with or without external fixator soft tissue distraction prior to centralization. Thirteen upper extremities treated with centralization alone were compared with 13treated with ring fixator distraction followed by centralization. Resting wrist position between the 2 groups was compared before surgery, approximately 2 years after surgery (midterm), and at final follow-up, which was at a mean of 10 years for the centralization-alone group and 6 years for the distraction group. Radiographs were reviewed for hand-forearm angle, hand-forearm position, volar carpal subluxation, ulnar length, and physeal integrity. The clinical resting wrist position was improved significantly after surgery and at final follow-up in both groups, but recurrence was worse at final follow-up in the distraction group patients. Radiographically, in the centralization alone group, the hand-forearm angle improved from 53° before surgery to 13° at midterm but worsened to 27° at final follow-up. In the distraction group, the hand-forearm angle improved from 53° before surgery to 21° at midterm but worsened to 36° at final follow-up. The hand-forearm position improved between preoperative and final assessment in both groups, but at final follow-up, the centralization-alone group had a significantly better position. Volar subluxation was 4 mm improved in the centralization alone group and 2 mm worse in the distraction group at final follow-up. Centralization, with or without distraction with an external fixator, resulted in improved alignment of the wrist. Distraction facilitated centralization, but it did not prevent deformity recurrence and was associated with a worse final radial deviation and volar subluxation position compared with wrists treated with centralization alone. Therapeutic III.

Embryology, diagnosis, and evaluation of congenital hand anomalies

Although congenital hand anomalies are rare, musculoskeletal clinicians should have a basic understanding of their clinical manifestations and the possibility of concurrent anomalies and syndromes. In this review, we provide a brief overview of the embryology of limb development and the molecular pathways involved. We also summarize the clinical manifestations, diagnostic evaluation, and principles of surgical treatment for radial longitudinal deficiency, thumb hypoplasia, ulnar longitudinal deficiency, central deficiency, syndactyly, polydactyly, and amniotic constriction band. Although one of the main goals of treatment is to provide a functional upper extremity, musculoskeletal clinicians should be aware of the clinical findings that should trigger referral to evaluate for life-threatening syndromes.

The Effect of Soft Tissue Distraction on the Outcomes of Centralization for Radial Longitudinal Deficiency: Level 3 Evidence

The Effect of Soft Tissue Distraction on the Outcomes of Centralization for Radial Longitudinal Deficiency: Level 3 Evidence

The added value of measuring thumb and finger strength when comparing strength measurements in hypoplastic thumb patients

BackgroundWhen interventions to the hand are aimed at improving function of specific fingers or the thumb, the RIHM (Rotterdam Intrinsic Hand Myometer) is a validated tool and offers more detailed information to assess strength of the involved joints besides grip and pinch measurements. MethodsIn this study, strength was measured in 65 thumbs in 40 patients diagnosed with thumb hypoplasia. These 65 thumbs were classified according to Blauth. Longitudinal radial deficiencies were also classified. The strength measurements comprised of grip, tip, tripod and key pinch. Furthermore palmar abduction and opposition of the thumb as well as abduction of the index and little finger were measured with the RIHM. FindingsFor all longitudinal radial deficiency patients, grip and pinch strength as well as palmar abduction and thumb opposition were significantly lower than reference values (P<0.001). However, strength in the index finger abduction and the little finger abduction was maintained or decreased to a lesser extent according to the degree of longitudinal radial deficiency. All strength values decreased with increasing Blauth-type. Blauth-type II hands (n=15) with flexor digitorum superficialis 4 opposition transfer including stabilization of the metacarpophalangeal joint showed a trend toward a higher opposition strength without reaching statistical significance (P=0.094),however compared to non-operated Blauth-type II hands (n=6) they showed a lower grip strength (P=0.019). InterpretationThe RIHM is comparable in accuracy to other strength dynamometers. Using the RIHM, we were able to illustrate strength patterns on finger-specific level, showing added value when evaluating outcome in patients with hand related problems.

Management of Congenital Radial Longitudinal Deficiency

Radial longitudinal deficiency is a spectrum of upper extremity dysplasia and hypoplasia affecting the proximal arm and the radial aspect of the forearm, wrist, and hand. Often, the hand surgeon is the first to evaluate a patient with radial longitudinal deficiency and thus must be aware of its common associated syndromes. Specific evaluation, including clinical examination and laboratory testing, is necessary. At this time, there are many surgical approaches that can be used for treatment of radial longitudinal deficiency. The procedures should be specifically tailored to the patient and family to improve overall function and clinical outcome.

Disruption of the Radial/Ulnar Axis:Congenital Longitudinal Deficiencies

Radial, ulnar, and central deficiencies represent a spectrum of abnormalities in the development of the upper limb. Radial longitudinal deficiency is often associated with abnormalities in other organ systems, such as cardiac and renal, and so requires a comprehensive medical evaluation. On the other hand, ulnar longitudinal deficiency tends to be associated only with other musculoskeletal abnormalities. In all of these conditions, there is a high incidence of ipsilateral thumb abnormalities. Given the importance of the thumb in overall hand function, abnormalities of the thumb often guide treatment for these conditions. Surgical treatment of the wrist and forearm in radial longitudinal deficiency is controversial, as will be outlined in this review.

Thumb Hypoplasia

Thumb hypoplasia, congenital underdevelopment of the thumb, can range from a slight decrease in thumb size to complete absence of the thumb. As part of the radial longitudinal deficiency spectrum, other organ systems may be affected as well. Hence, the global health of the child should be addressed before focusing on the thumb. The decision of whether to reconstruct the existing thumb or to ablate the thumb and perform a pollicization of the index finger hinges primarily on the examination of trapeziometacarpal joint stability. Ultrasound imaging may play a role in decision making in borderline cases. The ultimate goal of surgical treatment is to provide a stable and functional thumb.