Congenital Upper Limb Anomalies Research Articles

Syndromic Involvement of Patients Presenting With Congenital Upper Limb Anomalies: An Analysis of 4,317 Cases

This study investigated the patterns of syndromic involvement for patients with congenital upper limb anomalies (CULAs). We hypothesize that patients with CULAs will present with predictable syndromic patterns. This retrospective study queried the multicenter Congenital Upper Limb Differences (CoULD) Registry. Of the 4,317 patients enrolled, 578 (13%) reported one or more syndromes. Syndromes were confirmed to be recognized by the Online Mendelian Inheritance in Man. Demographics were reviewed and compared with the full CoULD registry group. Syndromes reported by five or more patients were examined to determine the type of CULA according to Oberg/Manske/Tonkin classifications. Of the 578 children with one or more reported syndromes, 517 had Online Mendelian Inheritance in Man recognized syndromes (cohort A), In cohort A, 58 syndromes were each represented by a single patient within the registry. Forty-eight syndromes in cohort A were reported by two or more patients, which accounted for 461 of the total patients with reported syndromes. However, VACTERL and Poland syndromes were the most commonly reported syndromes. Patients with CULAs and syndromes frequently exhibited bilateral involvement (61%), compared with the entire CoULD group (47%) and other orthopedic (50%) and medical conditions (61%) compared with the entire CoULD group (24% and 27%, respectively). Additionally, they exhibited a lower frequency of family history of a congenital orthopedic condition (21%) or a family member with the same CULA (9%) compared with the entire CoULD group (26% and 14%, respectively). Associated syndromes were recorded in 578 patients (13%) in the CoULD registry as follows: 58 syndromes represented by a single patient, 48 by 2 or more patients, and 23 syndromes by 5 or more patients. Rare syndromes that are only represented by a single patient are more likely to be unknown by a pediatric hand surgeon, and consultation with a geneticist is advised. Differential Diagnosis/Symptom Prevalence Study IV.

Epidemiology of Congenital Upper-Limb Anomalies in Southern Taiwan Based on the Updated Oberg, Manske, and Tonkin Classification: A Series of 1,335 Anomalies in 1,188 Patients

This study aimed to investigate the relative frequency of congenital upper-limb anomalies (CULAs) in southern Taiwan using the 2020-updated the Oberg, Manske, and Tonkin (OMT) classification system and evaluate the practicality of the new classification system. We retrospectively reviewed patients with CULAs from 1987 to 2021 at a referral center in southern Taiwan. All patients were analyzed based on medical records, photographs, and radiographs, and the anomalies were classified according to the 2020 OMT classification system. A total of 1,188 patients with 1,335 CULAs were retrospectively reviewed. The results demonstrated that the most common type of CULA was malformations (1,092 cases), followed by dysplasias (144 cases), syndromes (51 cases), and deformations (48 cases). Among the malformations, radial polydactyly was the most common anomaly (732 cases), followed by simple syndactyly (66 cases). Among the dysplasias, camptodactyly was the most common anomaly (52 cases), followed by thumb-in-palm deformity (45 cases) and vascular tumors (17 cases). In the deformations, constriction ring sequence accounted for all cases. Poland syndrome (21 cases) occurred most often in the category of syndromes. The results of this study show that radial polydactyly (732 cases, 55%) is the most common CULA in southern Taiwan, followed by simple syndactyly (66 cases, 5%) and then camptodactyly (52 cases, 4%). The OMT classification system is reasonably practical for precise classification of CULAs and enables easy comparison of studies over different time periods. However, continually updating the OMT classification system is required to better categorize the highly variable presentations of CULAs.

Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.

This study aimed to analyze the epidemiology of congenital upper limb anomalies (CULA) in Korea. We evaluated the incidence of each type of CULA, the presence of coexisting anomalies and the surgical treatment status in CULA patients. We conducted a retrospective cohort study of patients aged < 1 year between 2007 and 2016 who were registered with CULA in the Health Insurance Review and Assessment Service of Korea. In total, 10,704 patients had CULA, including 6,174 boys (57.7%) and 4,530 girls (42.3%). The mean annual incidence of CULA was 23.5 per 10,000 live births; it was significantly higher in boys than in girls (26.3 vs. 20.5, p < 0.001). Among the four categories of CULA—polydactyly, syndactyly, limb deficiency, and other anomalies—polydactyly was the most common. In total, 4,149 patients (38.8%) had other congenital anomalies and coexisting anomalies of the circulatory system (24.9%) were the most common. In total 4,776 patients (44.6%) underwent operative treatment for CULA within minimum three years of the diagnosis. The proportion of patients who underwent surgical treatment was significantly higher for polydactyly (73.4% vs. 16.8%, p < 0.001) and syndactyly (65.3% vs. 41.5%, p < 0.001), but it was significantly lower in limb deficiency (27.6% vs. 45.4%, p < 0.001) and other anomalies (10.0% vs. 69.8%, p < 0.001) than rest of CULA patients. Among the patients who had operations, 21.5% underwent multiple operations. The proportion of patients who underwent multiple operations was significantly higher in syndactyly (35.6% vs. 18.1%, p < 0.001), but it was significantly lower in polydactyly (4.0% vs. 95.5%, p < 0.001) and other anomalies (17.9% vs. 21.9%, p < 0.001) than rest of CULA patients. These results could provide a basis for estimating the national healthcare costs for CULA and the required number of CULA specialists.

Upper Limb Congenital Anomalies in Nigeria

Background: About 1–2% of neonates have congenital anomalies; of these, 10% affect the upper limbs. Congenital anomalies are structural or metabolic defects present at birth. Objective: To review cases seen over a four-year period in a tertiary specialist hospital in Lagos and share our experience.&#x0D; Methodology: Case notes and theatre records of patients with congenital upper limb anomalies were retrieved and relevant data extracted. Data were analyzed with SPSS version 20.&#x0D; Results: 46 patients with 53 diagnoses of upper extremity congenital anomalies: 28 were males and 18 females between 5 weeks and 14 years. 17 patients (37%) presented within the first 12 months of life. Average ages of mothers and fathers were 34.1 and 37 years respectively. 26% of mothers had febrile illnesses and 28.3% used herbal products during the index pregnancies. Swanson’s group 2 was the commonest (58.4). Syndactyly was the commonest descriptive individual diagnosis (49%). Treatments were individualized according to specific diagnosis.&#x0D; Conclusions: Congenital anomalies of the upper extremities present as various diagnostic entities. Syndactyly was the most frequently encountered here.&#x0D; Keywords: Upper limbs, Congenital, Anomalies

Convergent Validity of PODCI and PROMIS Domains in Congenital Upper Limb Anomalies

This study evaluates the perceived functional and psychosocial impact of upper limb congenital anomalies prior to surgical intervention, utilizing the Pediatric Outcomes Data Collection Instrument (PODCI) and Patient-Reported Outcomes Measure Information System (PROMIS) domains. We hypothesized that scores will be in the normal range and that the 2 outcomes measures will have strong convergent validity. A multicenter prospectively collected database of congenital upper limb patients, the CoULD (Congenital Upper Limb Differences) study group, was utilized. Demographic information was collected, and anomalies were classified by the Oberg-Manske-Tonkin (OMT) classification. Scores for PODCI subscales of Upper Extremity (UE) function, Pain/comfort, and Happiness and PROMIS domain of UE function, Pain, Depression, Anxiety, and Peer relations were collected. Ceiling and floor effects and convergent validity for PODCI and PROMIS domains were calculated. Three hundred fifty-nine patients, average age 10 years and 55% male, were included. Two hundred forty-one patients had a malformation of the entire limb and 231 had a hand plate malformation. Four patients had a deformation, 118 dysplasia, and 45 a syndrome. There was no difference between the PODCI and the PROMIS ceiling or floor effects for the UE domains. The ceiling effect for PROMIS Pain domain (46%) was similar to the floor effect of the PODCI Pain subscale and no difference was seen between the floor effect of PODCI Happiness and PROMIS Depression domains. Convergent validity was obtained for the UE and Pain domains, and also between PODCI Happiness and PROMIS Depression subscales. The PROMIS domains for UE function, Pain, and Depression are comparable with PODCI scores in congenital upper extremity anomalies. Given the large burden placed on patients with the lengthy PODCI questionnaire, consideration of replacing the PODCI with the more quickly obtained PROMIS scores may reduce patient burden and provide similar information in this population.

Advances in understanding the genetics of syndromes involving congenital upper limb anomalies

Congenital upper limb anomalies (CULA) are a common birth defect and a significant portion of complicated syndromic anomalies have upper limb involvement. Mostly the mortality of babies with CULA can be attributed to associated anomalies. The cause of the majority of syndromic CULA was unknown until recently. Advances in genetic and genomic technologies have unraveled the genetic basis of many syndromes-associated CULA, while at the same time highlighting the extreme heterogeneity in CULA genetics. Discoveries regarding biological pathways and syndromic CULA provide insights into the limb development and bring a better understanding of the pathogenesis of CULA. The aim of this review is to provide an overview of the genetic basis of syndromic CULA and discuss the role of biological pathways in syndromic CULA.

RADIATE \u2013 Radial Dysplasia Assessment, Treatment and Aetiology: protocol for the development of a core outcome set using a Delphi survey

BackgroundRadial dysplasia (RD) is a disfiguring, potentially disabling congenital upper limb anomaly. Multiple surgical techniques are in current use, with little agreement on the optimal treatment approach. At present, no core outcome set exists specifically for RD, and the literature is dominated by retrospective case series. A recent systematic review by this group demonstrated significant heterogeneity on which outcomes are measured and how they are measured.Methods/designThe RADIATE study will conduct a three-round online Delphi process, involving adult RD patients, the parents of children with RD, hand surgeons and hand therapists. The initial list of outcomes was drawn from our recent systematic review and will be supplemented by suggestions from the stakeholder groups. Following the Delphi process, outcomes that meet the consensus in definition will be ratified at a final consensus meeting. We will then follow the COSMIN guidelines to select outcome measurement instruments. Where appropriate, these will overlap with the outcome measures specified in the forthcoming standard set for congenital upper limb anomalies published by the International Consortium for Health Outcomes Measurement.DiscussionThe Radial Dysplasia Assessment, Treatment and Aetiology (RADIATE) study aims to address the uncertainty in the treatment of RD, and to begin to answer the question ‘What is the most appropriate treatment of the forearm and hand for children with RD?’ by establishing a core outcome set.Trial registrationCOMET initiative study, 902. Registered in May 2016.

A systematic review of the use of psychological assessment tools in congenital upper limb anomaly management

This study is a systematic review. Congenital upper limb anomalies (CULAs) are often associated with psychosocial difficulties including negative body image, low self-esteem, and withdrawal from social activities. The purpose of the study was to identify, describe, and evaluate all published psychosocial assessment tools used in the assessment and management of CULAs, to direct the use of these tools in clinical practice, and to identify areas requiring development. A systematic search of Medline, EMBASE, Pubmed, and PsychInfo databases was performed. In total, 23 studies were included for analysis. Data extracted included study and population characteristics, psychosocial measures utilized, psychosocial outcomes reported, and the reliability and validity of measures. Seventeen patient-reported measures were identified. The most commonly used tool was a Likert scale (n =7) with satisfaction with appearance and function, the most commonly evaluated outcome (n = 18). Other evaluated domains included quality of life or psychosocial functioning (n = 9), self-image (n = 2), and psychological well-being (n = 5). There is no well-established, validated assessment tool in regular use to effectively address psychosocial outcomes for children with CULAs. Although the majority of children born with a CULA appear to adjust well, this is by no means the case for all children. There is a need for routine psychosocial evaluation preoperatively and postoperatively with long-term follow-up data to help direct patient-orientated management. A clear understanding of these, and how to measure them, is needed to help for a patient-centred, multidisciplinary, evidence-driven approach to CULA management.

A multidisciplinary review of triphalangeal thumb.

Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies.

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

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 ofcombined 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. 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. 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). 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. 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.

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

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. 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. 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. 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. 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.

Identification of Associated Genes and Diseases in Patients With Congenital Upper Limb Anomalies

Purpose: Congenital upper limb anomalies (CULA) can present isolated or as a part of a syndrome or association. Therefore, surgeons dealing with CULA should be aware of associated diseases and anomalies. The newly accepted Oberg, Manske, and Tonkin (OMT) classification allows for registration of a wide spectrum of CULA. Therefore, providing associated diseases for each hand anomaly in the classification would aid differential diagnosis formulation in clinic and investigation of causal genes in research. The first aim of this study was to review the Human Phenotype Ontology (HPO) database for diseases and causative genes that can be related to hand anomalies present in the OMT classification. The second aim was to relate associated anomalies and inheritance patterns to improve differentiation between the diseases. Methods: The HPO database was reviewed for all diseases with a known causative gene related to hand anomalies. All hand phenotypes were classified according to the OMT classification; nonhand phenotypes were classified into anatomical groups. TIBCO Spotfire Software was used to visualize the contribution of each anatomical group to a given disease and to prioritize diseases based on this contribution. Results were compared with literature cases and to a current HPO tool, Phenomizer. Results: In total, 514 hand phenotypes were obtained, 384 could be classified in the OMT classification, and 1403 diseases could be related to the OMT classification. Differentiation between diseases is illustrated by examples. Comparison to recently published hand phenotypes reveals that all were present in our data set. Gene prioritization using our methodology was better than Phenomizer in 4/5 examples. Conclusions: We present an OMT-classification-based methodology to aid clinicians in differential diagnosis formulation in patients with CULA. Furthermore, we enable discrimination between the diseases by providing insight in the differences in disease presentation. Gene prioritization and visualization in the proposed system outperforms systems in current use.

The Application of the Oberg, Manske, and Tonkin Classification in Clinic

Introduction: Congenital upper limb anomalies (CULA) exhibit a wide spectrum of phenotypic manifestations. To describe the full nature of all anomalies, the Oberg, Manske, and Tonkin (OMT) classification was developed. The OMT classification aims to provide a classification which better fits the current concepts of the etiology and allow combined documentation of all anomalies present in a single limb. The introduction of the OMT classification was succeeded by multiple validation studies regarding its clinical application. However, all studies were mainly aimed to test usability of the classification and were not consistent in the classification strategy: In some studies, all anomalies were classified as suggested by the initiators, whereas others only used one diagnoses per limb. Therefore, the aim of this study was to evaluate the various classification strategies used with the OMT classification. Methods: We retrospectively reviewed all patients visiting the Erasmus MC Team for Congenital Hand and Upper Limb Malformations in the Sophia Children’s Hospital between December 2014 and February 2012. All congenital anomalies of both limbs individually were classified according to the OMT scheme as proposed by Tonkin et al; furthermore, all associated anomalies were recorded. In compound hand phenotypes, every hand anomaly present was classified to best describe the clinical features of every patient. To evaluate which hand anomalies commonly required multiple diagnoses used within one patient, the mean number of diagnosis and 95% confidence interval (CI) were calculated and plotted for each OMT class and diagnose specifically. To evaluate whether multiple OMT-term use was effective to discriminate different cohorts of patients, the group characteristics of patients requiring one OMT diagnosis versus patients requiring multiple OMT diagnoses were studied. Results: In total, 736 patients were eligible for inclusion and 953 OMT diagnoses were registered; 449 were unilateral (219 left-handed, 230 right-handed) and 504 were bilateral. The average number of diagnosis for each patient was 1.29 (95% CI, 1.25-1.34). In 20.5% of the patients ( n = 155), a combination of OMT diagnoses was used to describe the observed anomalies. The total number of unique combinations of OMT diagnosis was 101, of which 77 combinations were only used once and 24 were used repeatedly. We illustrate that in radial polydactyly, additional OMT diagnosis was often used to convey differentiating characteristics, such as additional ulnar polydactyly, the combination of which was more often observed in patients with a syndromal cause of the anomaly. Conclusion: We conclude that the strategy used in applying the OMT classification is of eminent importance for optimizing the discriminating features of the OMT classification. As suggested by the initiators, all terms necessary to convey the full nature of the anomaly should be used. We illustrate our point using case examples for radial polydactyly.

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.

The Classification of Swanson for Congenital Anomalies of Upper Limb Modified by the Japanese Society for Surgery of the Hand (JSSH).

The aim of this study is to introduce the classification of Swanson for congenital anomalies of upper limb modified by the Japanese Society for Surgery of the Hand (the JSSH modification) in English. The Swanson classification has been widely accepted by most hand surgeons. However, several authors have suggested that complex cases, particularly those involving the complex spectrum of cleft hand and symbrachydactyly, are difficult to classify into the classification schemes. In the JSSH modification, brachysyndactyly, so-called atypical cleft hand and transverse deficiency are included under the same concept of transverse deficiency. Cleft hand, central polydactyly, and syndactyly are included in the same category of abnormal induction of digital rays. We believe that the JSSH modification system is effective in providing hand surgeons with the clinical features and conditions for congenital anomalies.

Involvement of hand surgeons in research on the genetics and pathogenesis of congenital upper limb anomalies.

Involvement of hand surgeons in research on the genetics and pathogenesis of congenital upper limb anomalies.

Epidemiology of Congenital Upper Limb Anomalies in Stockholm, Sweden, 1997 to 2007: Application of the Oberg, Manske, and Tonkin Classification

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. 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. 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. 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. Diagnostic III.

Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic

Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their etiology are hardly available due to the heterogeneity across classification systems. In this study, we aim at defining the CULA etiology of patients that have been evaluated at the Modena University Hospital's Congenital Hand Malformations multidisciplinary clinic in the years 2004 to 2012. Medical records of 487 patients were retrospectively reviewed. On the basis of clinical, anamnestic, and genetic data, the CULA were distributed into two main groups: (1) non-Mendelian etiology, including prenatal exposure, somatic mutations and amniotic bands; and (2) Mendelian etiology, including single gene and genomic/chromosomal diseases. CULA were further grouped according to the embryological damage (formation, separation and growth defects) and to the involved axis (radial, ulnar, central). A Mendelian etiology was diagnosed in 199 patients (40.9%), whereas the remaining 288 cases (59.1%) were described as non-Mendelian. The involvement of the lower limbs, the presence of malformations in other organs and facial dysmorphisms were significantly more represented in the Mendelian cases. The formation defects were significantly more frequent in the non-Mendelian group (p < 0.001), whereas the frequency of separation defects was higher in the Mendelian cases (p = 0.0025). Patients with non-Mendelian etiologies showed a significantly higher frequency of central defects (p = 0.0031). The two etiologies differ in terms of patient's clinical features, morphology defect and axis involvement. This data may be helpful to the clinician during the patient's diagnostic workup by indicating the necessity for genetic testing and for determining the anomaly's recurrence risk.

Congenital hand anomalies

Abstract Congenital upper limb anomalies affect 0.1–0.2% of all newborns. They are often isolated phenomena but can be associated with other congenital anomalies and may be the only external manifestation of a syndrome. Knowledge of the treatment options is imperative to ensure appropriate referral and counselling. The aim of surgery for a congenital hand anomaly is to improve both function and appearance. Apart from the face, the hand is the only other part of the body on regular display. Independent living is largely dependent on good bimanual hand function. For example a large proportion of activities of daily living such as washing, dressing, and feeding consist of bimanual tasks. It is only when we temporarily lose the function of one hand that the significance of this becomes apparent. However, children with congenital hand anomalies adapt very well to limitations of hand function and can often find “trick” manoeuvres to achieve essential tasks. As there is a wide variation in the types and severities of hand anomalies these cases are largely managed in specialized clinics. It is in this setting that the child and family will have access to long-term multidisciplinary care which includes input from geneticists, psychologists, therapists and children’s hand surgeons. For some children with more complex anomalies, psychological support can be as valuable as surgery to aid integration with and acceptance by their peers.

Congenital upper limb anomalies: An etiologic grouping of clinical, genetic, and epidemiologic data from 387 patients with “absence” defects, constriction bands, polydactylies, and syndactylies

Congenital upper limb anomalies: An etiologic grouping of clinical, genetic, and epidemiologic data from 387 patients with “absence” defects, constriction bands, polydactylies, and syndactylies