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.

Deficiencia radial longitudinal. Análisis de resultados clínicos y radiológicos / Radial longitudinal deficiency. Analysis of clinical and radiological results

Introducción: La deficiencia radial longitudinal comprende anormalidades óseas, musculotendinosas y neurovasculares de etiología multifactorial del lado radial de la extremidad superior. El tratamiento incluye mejorar la longitud, la apariencia y el funcionamiento de la mano. El objetivo del trabajo es mostrar la experiencia en una serie de pacientes atendidos en los últimos 15 años y describir resultados clínicos y radiológicos. Metodología: Estudio retrospectivo de pacientes con deficiencia radial longitudinal entre 2000 a 2016. Se analizaron variables y se identificaron asociaciones de edad al momento de cirugía, sexo, lateralidad, grado de la deformidad según la clasificación Bayne-Klug modificada, técnica quirúrgica realizada, daño de la fisis, enfermedades asociadas, resultados funcionales y radiológicos. Resultados: Cuarenta y siete casos de 65 cumplían con criterios de inclusión. La edad promedio de la cirugía fue de 19 meses, 61% de sexo femenino. Según la clasificación el tipo IV fue el 60%, el tipo III el 19%, el tipo 0 el 17% y tipo I el 4%. La intervención practicada fue la centralización en el 72,3%, la radialización en el 8,5% y hubo un caso de alargamiento. Se realizó osteotomía de cúbito en el 55,3%. Hubo daño de la fisis en el 31%. La posición radiológica postoperatoria fue neutra en el 48,9%. Conclusiones: En pacientes con centralización a un año se observa una buena corrección clínica y radiológica, sin embargo esta se va perdiendo con el tiempo. El tratamiento de los tejidos blandos previo a la centralización se cree que permite obtener mejores resultados. El uso de clavo intramedular del cúbito al carpo podría estar asociado con daño de fisis del cúbito distal

Introduction: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. Methodology: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. Results: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. Conclusions: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna

Classification of congenital upper limb anomalies: towards improved communication, diagnosis, and discovery.

Recently the International Federation of Societies for Surgery of the Hand replaced the Swanson scheme for classifying congenital upper limb anomalies with the Oberg, Manske, Tonkin (OMT) classification. This review explores the reasons for this change after nearly 50 years of using the Swanson classification. In particular, it documents the state of our understanding regarding genetics and limb development at the time Swanson generated his classification. It also describes the continued progress in clinical genetics and developmental biology. Such progress drives the need to embrace and incorporate these changes within a new classification scheme; one that will improve communication, diagnosis, and support further discovery of the pathogenesis of congenital hand anomalies.

Radial longitudinal deficiency. Analysis of clinical and radiological results. / Deficiencia radial longitudinal. Análisis de resultados clínicos y radiológicos.

INTRODUCTION: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. METHODOLOGY: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. RESULTS: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. CONCLUSIONS: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna.

Documenting Combined Congenital Upper Limb Anomalies Using the Oberg, Manske, and Tonkin Classification: Implications for Epidemiological Research and Outcome Comparisons.

PURPOSE: Congenital upper limb anomalies (CULAs) exhibit a wide spectrum of phenotypic manifestations. To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. The OMT classification allows for documentation of combined hand anomalies. However, subsequent epidemiological and validation studies using the OMT scheme commonly registered only the main anomaly per arm. This study illustrates both the deficits of single diagnosis documentation as well as the merits of registering every anomaly for epidemiological research, outcome comparison, and overall applicability of the classification. METHODS: We retrospectively reviewed patients visiting the Erasmus MC - Sophia Children's Hospital between 2012 and 2014. All congenital anomalies of both limbs were classified according to the OMT scheme. The frequency of combined diagnoses as well as recurrent combinations were analyzed. The relation to the coregistered syndromes was studied. RESULTS: We included 746 patients, 79.5% of whom could be documented with a single OMT diagnosis. In 20.5%, a combination of OMT diagnoses was documented. We documented 149 different combinations: 102 were documented once, 47 were documented repeatedly (n = 196); for example, in patients with Greig syndrome. The prevalence of this syndrome was significantly higher in patients with a combination of radial polydactyly, ulnar polydactyly, and/or syndactyly (2.9% vs 33.3% and 60% in patients with 1 vs 2 and 3 diagnoses). CONCLUSIONS: Documentation of combined OMT diagnoses is required in a fifth of the patients. Not doing so will cause loss of phenotypic information and can hamper outcome comparison and epidemiological research. Documentation of combined OMT diagnoses can help to identify subgroups within a population, for example, patients with an underlying syndrome. Last, combined documentation of diagnoses improves flexibility of the classification and thereby better allows universal application. CLINICAL RELEVANCE: Consensus on the application of the OMT classification is critical to achieving the universal adoption of the system by hand surgeons and other medical professionals.

Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.

BACKGROUND: The purpose of this investigation was to determine the reliability of the Oberg-Manske-Tonkin (OMT) classification system applied to patients enrolled in a prospective, multicenter cohort study of congenital upper limb differences. Our hypothesis was that the OMT classification would exhibit high intraobserver and interobserver reliability and thus would be an appropriate tool for the new Congenital Upper Limb Differences registry. METHODS: Four pediatric hand surgeons independently reviewed the medical records, clinical photographs, and radiographs of 60 randomly selected patients previously enrolled in the Congenital Upper Limb Differences registry. Patient's information was summarized and shared electronically (PowerPoint). Each rater classified each congenital anomaly according to the OMT classification system. Responses were recorded using a web-based data capture tool (REDCap). Three weeks later, the surgeons repeated the process. Intraobserver reliability for each rater was assessed using Fleiss' κ. Interobserver reliability was assessed using percent exact agreement (when all 4 raters were in agreement) as well as Fleiss' κ. RESULTS: Using the OMT classification, intraobserver reliability for the 4 pediatric hand surgeons showed almost perfect agreement, with κ values in the range of 0.89 to 0.93. Interobserver reliability demonstrated substantial agreement, with κ value of 0.79 (95% confidence interval, 0.77-0.82) in the first reading and 0.80 (95% confidence interval, 0.77-0.83) in the second reading. The highest possible agreement (κ=1) was seen for the following diagnoses: congenital dislocation of radial head (OMT I.A.2.v), Madelung deformity (I.A.2.vii), radial polydactyly (I.B.2.iii), triphalangeal thumb (I.B.2.iv), Kirner deformity (I.B.4.vi), and osteochondromatosis (3.B.4.i). CONCLUSIONS: The OMT classification of congenital upper limb differences exhibits substantial to almost perfect intraobserver and interobserver reliability among pediatric hand surgeons at different institutions. The OMT is therefore well-suited for classification of congenital upper limb anomalies in patients enrolled in a multicenter registry. LEVEL OF EVIDENCE: Level II-diagnostic.

Radial Longitudinal Deficiency: Recent Developments, Controversies, and an Evidence-Based Guide to Treatment.

Radial longitudinal deficiency (RLD) is the most common congenital longitudinal deficiency at birth and represents a wide spectrum of upper extremity anomalies, from mild thumb hypoplasia to absent radius. Radial dysplasia may be isolated or associated with an array of systemic anomalies that should be familiar to pediatric hand surgeons. The management of RLD has evolved greatly since its inception in the late 19th century, largely due to decades of innovation that followed the thalidomide catastrophe of the 1960s. Yet controversy still exists regarding many aspects of RLD. Traditional treatments of radial dysplasia (ie, centralization) are unfortunately wrought with poor outcomes and high rates of recurrence, leading some authors to recommend alternative techniques for this condition. Reconstruction of the hypoplastic thumb, although less controversial, is just starting to see long-term outcomes. This article reviews the etiology, classification, and treatment options for RLD, highlighting recent developments and outcomes.

Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification.

PURPOSE: Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA. The aims of this study were to review the Human Phenotype Ontology (HPO) project database for diseases and causative genes related to the CULA described in the OMT classification and to develop a methodology for differential diagnosis formulation based on the observed congenital anomalies, CulaPhen. METHODS: We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer. RESULTS: In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples. CONCLUSIONS: The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use. CLINICAL RELEVANCE: This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can aid differential diagnosis formulation for CULA patients.

Views on the Oberg-Manske-Tonkin Classification System for Congenital Anomalies of the Hand and Upper Limb.

A new classification system was proposed by Tonkin et al as a replacement for the Swanson/International Federation of Societies for Surgery of the Hand system. We have reviewed their aims and have pointed out a number of problems that will make it difficult to be universally accepted.

Classification of congenital anomalies of the hand and upper limb.

The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved. It is not possible to satisfy all criteria which would define an ideal classification. However, this system is practical in that it retains the surgical diagnoses and sub-classifications familiar to surgeons and is easily utilized; it is expandable and may be modified without destroying its structure; it may be used to accumulate prevalence data; and, in the future, gene and chromosomal defects which are identified for specific diagnoses may be incorporated into the system.

An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification.

PURPOSE: This study attempted to evaluate a series of patients with hereditary multiple exostoses (HME) who could not be categorized according to the widely accepted Masada classification and to identify radiographic variables such as radial bowing, ulnar shortening, ulnar variance, radial articular angle, and carpal slip predictive of deformity. METHODS: We retrospectively reviewed data on 102 upper limbs of 53 pediatric patients with HME. Demographics, site of forearm involvement, and radiographic parameters were documented. Patients with exostoses of the forearms were categorized into 6 groups based on location of the exostoses and presence or absence of a dislocated radial head. Proportional ulnar shortening was calculated as the ratio of ulnar length to radial length. RESULTS: According to the Masada classification, 4 limbs were normal, 10 were type I, 2 were type II, and 24 were type III. Sixty-six limbs were unclassifiable. We classified those 66 limbs using a modification of the Masada classification. Of the 106 limbs, 11 (10.3%) had a dislocated radial head. Based on the radiographic analysis, patients with proportional ulnar shortening of less than 0.9 had a higher risk of radial head dislocation than did those with proportional ulnar shortening of 0.9 or greater. Patients with radial bowing greater than 8.1% showed a higher frequency of radial head dislocation than did those with radial bowing of 8.1% or less. Exostoses of both the distal radius and ulna tended to increase the rate of radial head dislocation. A greater amount of negative ulnar variance caused more radial bowing and a greater radioarticular angle. CONCLUSIONS: We propose a new comprehensive forearm classification for patients with HME. Proportional ulnar shortening less than 0.9 and radial bowing 8.1% or greater can be used to predict the risk of radial head dislocation. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

[Congenital deformities of the hand and upper limb]. / Les malformations congénitales de la main et du membre supérieur.

Congenital deformities of the hand and upper limb include a significant number of clinical situations. Their expression is, as in all congenital diseases, variable. Therefore, we can almost consider that each clinical situation is a bit unique. The difficulty, as any congenital disease, is the fact that the clinical cases are extremely diverse and difficult to classify. So what to do and surgical strategies are often matter of "School". This is even more true that the evaluation of results is very difficult due to low series (poor statistical value) and functional assessment to be partly due to the growth of the child. It is impossible in a few pages to describe all malformations of the hand and upper limb, summarize the indications and evaluate the results. Also, this chapter is not exhaustive and we will focus primarily on the most frequent pathologies.

Defining Features of the Upper Extremity in Holt-Oram Syndrome.

PURPOSE: To investigate the distinguishing morphological characteristics of children with radial longitudinal deficiency (RLD) in Holt-Oram syndrome (HOS). METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic III.

Epidemiology of congenital upper limb anomalies in a midwest United States population: an assessment using the Oberg, Manske, and Tonkin classification.

PURPOSE: To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system. METHODS: 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. We applied the OMT classification that categorizes anomalies using a dysmorphology outline as malformations, dysplasias, deformations, and syndromes, and assessed its utility and ease of use. RESULTS: There were 480 extremities (74%) with a limb malformation including 184 involving the entire limb. Arthrogryposis was the most common of these (53 extremities). Anomalies affecting only the hand plate accounted for 62% (296) of the malformations. Of these, radial polydactyly (15%) was the most common specific anomaly, followed by symbrachydactyly (13%) and cleft hand (11%). Dysplasias were noted in 86 extremities; 55 of these were multiple hereditary exostoses. There were 87 extremities with deformations and 58 of these were trigger digits. A total of 109 children had a syndrome or association. Constriction ring sequence was most common. The OMT was straightforward to use and most anomalies could be easily assigned. There were a few conditions, such as Madelung deformity and symbrachydactyly, that would benefit from clarification on how to best classify them. CONCLUSIONS: Malformations were the most common congenital anomalies in the 653 upper extremities evaluated over a 1-year period at 3 institutions. We were able to classify all individuals using the OMT classification system.

Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification.

PURPOSE: To investigate the epidemiology of congenital upper limb anomalies (CULA) based on the newly proposed Oberg, Manske, and Tonkin (OMT) classification, to compare this classification with the International Federation of Societies for Surgery of the Hand (IFSSH) classification, and to provide incidence rates of the different CULA. METHODS: In this study, the same 562 individuals with a CULA who were analyzed in a previous epidemiologic study based on the IFSSH classification were reclassified according to the OMT classification. All children identified with CULA and born in Stockholm County between January 1, 1997 and December 31, 2007 were included in the study. During the period there were 261,914 live births in Stockholm County, and the population of Stockholm County was 1,949,516 inhabitants at the end of the period. From medical records and available radiographs, all cases were analyzed regarding type of CULA, sex, affected side, associated nonhand anomalies, and occurrence among relatives. Individuals with right and left side anomalies belonging to different OMT subgroups were counted as 2 anomalies; thus, the material consisted of 577 CULA in 562 children. RESULTS: It was possible to organize all CULA into the OMT classification. The largest main category was malformations (429 cases), followed by deformations (124 cases), dysplasias (10 cases), and syndromes (14 cases). We present the relation between the IFSSH and OMT classifications, elucidate difficulties within the OMT classification, and propose additions to the classification. CONCLUSIONS: This study confirms that the OMT classification is useful and accurate, but also points out difficulties. With further refinements, we regard the OMT classification as a needed and appropriate replacement for the IFSSH classification. TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic III.

Severity grading in radial dysplasia.

A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author's examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author's series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients.