Congenital Hand Malformations Research Articles

Determining normal and abnormal reference values for corrective osteotomy for congenital hand malformation: a study on the zone of provisional calcification and bone axis.

This study aims to establish reference values for the normal bone axis in children to assess the effectiveness of corrective osteotomy procedures and guide the treatment of congenital hand malformations and post-operative axis deviations. A retrospective study was carried out between January 1, 2022, and October 9, 2024. A total of 192 individuals were included. In both abnormal and normal individuals, we measured the angles within the zone of provisional calcification and the bone axis. The metacarpal, proximal, and distal phalanx of the thumb were measured in both males and females. We calculated the average and standard deviations for both groups. These normal reference values were then compared with the abnormal reference values of patients who had types II and IV polydactyly. Our work effectively established thorough reference values for the thumb's normal axis. Considering the success of corrective osteotomies in children with congenital deformities depends mostly on these values. In polydactyly type IV, we observed a change in the angle on the side with the axis deviation. Our results highlight the need for an exact preoperative design for thumb reconstruction. Italso implies the possibility of choosingthe side with little or no axis deviation during operation. This strategic selectioncan help prevent the need for additional osteotomies or subsequent surgeries. Evaluating and preparing corrective osteotomy treatments benefits significantly from the reference values for the proper alignment of the thumb's bones. These results enable surgeons to predict the degree of corrective osteotomy needed, thereby improving postoperative surgical results and patient satisfaction.

3D MODEL of an anatomically inert human hand: feasibility study

ObjectivesSurgery for congenital malformation of the hand is complex and protocols are not available. Simulation could help optimize results.The objective of the present study was to design, produce and assess a 3D-printed anatomical support, to improve success in rare and complex surgeries of the hand. Material and methodsWe acquired MRI imaging of the right hand of a 30 year-old subject, then analyzed and split the various skin layers for segmentation.Thus we created the prototype of a healthy hand, using 3D multi-material and silicone printing devices, and drew up a printing protocol suitable for all patients.We printed a base comprising bones, muscles and tendons, with a multi-material 3D printer, then used a 3D silicone printer for skin and subcutaneous fatty cell tissues in a glove-like shape.To evaluate the characteristics of the prototype, we performed a series of dissections on the synthetic hand and on a cadaveric hand in the anatomy lab, comparing realism, ease of handling and the final result of the two supports, and evaluated their respective advantages in surgical and training contexts. A grading form was given to each surgeon to establish a global score. ResultsThis evaluation highlighted the positive and negative features of the model. The model avoided intrinsic problems of cadavers, such as muscle rigidity or tissue fragility and atrophy, and enables the anatomy of a specific patient to be rigorously respected. On the other hand, vascular and nervous networks, with their potential anatomical variants, are lacking.This preliminary phase highlighted the advantages and inconveniences of the prototype, to optimize the design and printing of future models. It is an indispensable prerequisite before performing studies in eligible pediatric patients with congenital hand malformation. ConclusionThe validation of 3D-printed anatomical model of a human hand opens a large field of applications in the area of preoperative surgical planning.The postoperative esthetic and functional benefit of such pre-intervention supports in complex surgery needs assessing.

Congenital hand malformations in an anatomical donor: a potential case of brachydactyly type B

This study investigates the anatomy of a cadaveric hand presenting with a rare malformation that we identified as a form of brachydactyly. We performed a layer-by-layer dissection of the affected cadaveric hand and documented both the normal and variant anatomical compositions that were present. The osteology revealed complete aplasia of the proximal and middle phalanges of the second, third, fourth, and fifth digits along with truncated distal phalanges of the fourth and fifth digits. The radius, ulna, carpal bones, and the first digit were unremarkable. Neurovasculature followed standard anatomical courses. Normal development of surrounding musculature was observed. Congenital hand malformations are infrequently observed in the anatomy lab and provide a unique learning opportunity for students and faculty alike. While hand deformities are frequently imaged through noninvasive techniques such as X-rays and CT imaging, they are infrequently dissected. Through dissection, clinicians and anatomists may be able to adopt a more tangible appreciation for the underlying anatomy of this condition.

Non-vascularized toe phalanges transplantation in congenital hand malformations

According to the world literature, congenital malformations of the upper limb are found in 2.37.9 per 10 thousand live births, while anomalies in the development of the hand occur in 6595% of patients, the most common are reduction anomalies (brachydactyly, ectrodactyly, adactyly, hypoplasia). Various methods of reconstructive plastic surgery are known in the world literature, including microsurgery, compression-distraction osteosynthesis, various types of skin, tendon-muscle and bone plasty, as well as prosthetics. Non-vascularized toe phalanges transplantation is a less common method, which is effective and technically accessible in case of reduction anomalies of the hand. This study is aimed at studying the relevance of the application of the presented method based on the analysis of world literature.
 The aim of the review is the analysis of the world experience of using non-vascularized toe phalanges transplantation in case of congenital hand malformations. A search was made for literature sources in the open electronic databases PubMed and eLibrary for the last 110 years. The publications devoted to the study of the effectiveness of transplanting the phalanges of the toes into defects of the fingers in clinical practice are analyzed. This method has a number of advantages: low morbidity for the donor foot, minimal risk of resorption of the transplanted graft, restoration of the anatomy of the formed finger, preservation of blood supply and sensitivity in the formed finger, the possibility of phalanx growth while maintaining the growth zone, the functionality of the fingers. At the same time, such issues as the detailed functioning of the growth zone of the non-perfusion phalanx after its transplantation, the reasons for the continuation or cessation of growth in the short term after surgery, the resorption of displaced phalanges, and the dependence of the mobility of the reconstructed fingers on the technology of interventions are not indicated anywhere.
 Conducting further research on the role of transplantation of non-vascularized toe phalanges in the pathology of the hand in children seems to be an actual task.

A review of polydactyly and its inheritance: Connecting the dots

This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly. There is a frequency of 0.37 to 1.2 per 1000 live births for polydactyly, which is also known as hyperdactyly. It is characterized by the presence of extra fingers. Polydactyly is caused by a failure in limb development, specifically the patterning of the developing limb bud. The phenotypic and genetic variability of polydactyly makes its etiology difficult to understand. Pre-axial polydactyly, central polydactyly (axial), and postaxial polydactyly are all examples of non-syndromic polydactyly (ulnar). An autosomal dominant disorder with varying penetrance that is mostly passed down via limb development patterning abnormalities. A comprehensive search of MEDLINE/PubMed and other databases was followed by an evaluation of the relevant papers, with a particular focus on those published between 2000 and 2022. Of 747 published article related to Polydactyly from MEDLINE/PubMed search, 43 were from the last 10 years and were the focus of this review. Polydactyly is one of the most frequent congenital hand malformations. PAP is more common than PPD, whereas central polydactyly is very uncommon.

Readability and Quality Assessment of Online Materials for Syndactyly Release.

Background:Syndactyly is one of the most common congenital hand malformations, involving an abnormal fusion of digits and with treatment varying according to its complexity. The internet has become a primary source of information for both families and patients with congenital hand anomalies. The purpose of this study was to evaluate both the readability and quality of available web content for syndactyly, using validated instruments.Methods:Two independent reviewers conducted searches for “Syndactyly” using three of the largest online search engines: Bing, Google, and Yahoo. The top 10 websites for each search engine, along with any webpage within one click of the parent website, were analyzed. Readability was assessed using seven established quantitative tests. The quality of the web pages was analyzed using the Discern questionnaire and handbook.Results:A total of 15 websites were included in the analysis. The average readability of all websites was equivalent to comprehension at a grade 11.3 level. The average Flesch reading ease score was 49.3 out of 100, which is considered difficult to read. Quality was assessed using Discern, a brief questionnaire consisting of 16 questions with five points attributed per question. The mean quality score using Discern was 33.3 points out of a maximum of 80 points.Conclusions:Online materials pertaining to the treatment of syndactyly far exceed the recommended sixth-grade reading level, and lack in terms of quality and comprehensiveness of information. Health care professionals should be cognizant of the paucity of available online information and provide patients with more appropriate resources.

Symbrachydactyly.

Symbrachydactyly is a rare congenital hand malformation in which a child is born with abnormally short digits that may be webbed, misshaped, or missing, and it is usually a unilateral condition. There is no standardized treatment algorithm for the management of symbrachydactyly. The function of the hand is often not adequate and requires early surgical intervention to restore useful prehension and appearance. This CME article presents a brief review of the embryology, history, classification and clinical presentation, and author's experience of treating 19 children with symbrachydactyly over 10 years. Creation of thumb web, lengthening of thumb, and creating an opposition post results in prehension of hand with an improved quality of life.

Functional Outcome of Syndactyly Repair in Children

Background: As the most prevalent form of congenital hand malformation, syndactyly carries significant aesthetic and practical implications. For the vast majority of situations, surgery is the best option. Congenital syndactyly can be repaired with skin grafts and local flaps, however the results are often less functional and cosmetic than anticipated and often leave scars and residual syndactyly. So we set out to find out how children's syndactyly healing went in this study.1 Objective: To analyze the functional outcome of syndactyly repair in children presenting in a tertiary care hospital. Methodology: This Descriptive case series was conducted at Department of Plastic and Reconstructive Surgery, LUMHS Jamshoro / Hyderabad for 6 months. Sample size of 180 cases was recruited through Non-probability consecutive sampling. Then all patients underwent surgery under general anesthesia. In all cases, procedure was performed depends upon the type / extent of syndactyly. Then patients were discharged after recovery and were followed up on 1st, 2nd and 3rd months post operatively for assessment of functional outcome of syndactyly repair i.e. no supination and no pronation was noted. All this information was noted on proforma. Data was entered and analyzed using SPSS 22.0. Results: The mean age of children was 6.30+3.55. There were 66 (37%) females and 114 (63%) male in the sample. There were 128 (71%) cases of simple syndactyly and 52 (29%) cases of complex syndactyly. There were 127 (71%) cases who had no-supination, 162 (90%) cases who had no-pronation. There was significant difference observed between both type of syndactyly (P<0.05) for supination while insignificant for pronation. Conclusion: Thus we have found that syndactyly repair is effective technique through which we can attain success in maximum number of patients which can help in achieving normal angulation of fingers after surgery. Key words: Syndactyly, Pronation, Supination, Angulation, Children

Three-dimensional CT angiography for surgical planning in congenital hand malformations: a case series presentation.

Between January 2000 and December 2019, three-dimensional computer tomographic (CT) angiography was used in a total of 140 hands (116 patients, mean age 6.8years) with congenital hand malformation to assess the vascular and bony structures. Analysis showed overall satisfactory three-dimensional CT images for operative planning, including detailed abnormal vascular patterns and bony malformations. Among the 116 patients, six patients with typical findings of a few malformations are reported in detail. Pitfalls in interpretation of the images and the use of three-dimensional CT angiography in surgical planning are discussed. We conclude that three-dimensional CT angiography is useful for preoperative planning of complex congenital hand malformations.Level of evidence: IV.

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

PurposePreaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I–IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types. However, the genes responsible for PPD I and the underlying mechanisms are unknown. MethodsA rare large four-generation family with isolated PPD I was subjected to genome-wide genotyping and sequence analysis. In vitro and in vivo functional studies were performed in Caco-2 cells, 293T cells, and a knockin transgenic mouse model. ResultsA novel g.101779T>A (reference sequence: NG_009240.2; position 446 of the ZRS) variant segregates with all PPD I–affected individuals. The knockin mouse with this ZRS variant exhibited PPD I phenotype accompanying ectopic and excess expression of Shh. We confirmed that HnRNP K can bind the ZRS and SHH promoters. The ZRS mutant enhanced the binding affinity for HnRNP K and upregulated SHH expression. ConclusionOur results identify the first PPD I disease-causing variant. The variant leading to PPD I may be associated with enhancing SHH expression mediated by HnRNP K. This study adds to the ZRS-associated syndromes classification system for PPD and clarifies the underlying molecular mechanisms.

National Patterns in Surgical Management of Syndactyly: A Review of 956 Cases.

Purpose: Being one of the most common congenital hand malformations, syndactyly is repaired by orthopedic, plastic, and fellowship-trained general surgeons. Limited multi-institutional outcomes analyses regarding incidence, timing, and type of repair exist. Methods: All syndactyly cases performed over a 5-year period from 2012-2016 were isolated from the National Surgical Quality Improvement Program Pediatric database. Patient demographics, surgical factors, perioperative outcomes, and risk factors were analyzed using χ2, Fisher exact, and t-test analysis. Results: A total of 956 patients who underwent syndactyly repair were identified. Most cases were simple syndactyly with nearly even case distribution among plastic and orthopedic surgeons. Most patients were men and Caucasian. Mean age at the time of surgery was 2.6 years. Most cases were performed as outpatient surgery. Patients of plastic surgeons had significantly more airway abnormalities and shorter operative times. Patients with complex syndactyly had significantly more ventilator dependence, tracheostomy, and comorbidities when compared with those with simple syndactyly. Cases with complex syndactyly also had longer operative times and a higher rate of superficial surgical site infections. Conclusions: Syndactyly repair is a safe procedure with few major or minor reconstructive complications regardless of the surgical specialty or syndactyly type. Patients with complex syndactyly have significantly more preoperative comorbidities with comparable outcomes. orthopedic surgeons have significantly longer operative times than plastic surgeons, likely due to caring for increased number of patients with complex syndactyly.

Comparison of Patient-Reported Outcomes Measurement Information System (PROMIS) Scores for Children with Congenital Hand and Upper-Limb Malformations

Comparison of Patient-Reported Outcomes Measurement Information System (PROMIS) Scores for Children with Congenital Hand and Upper-Limb Malformations

Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population

Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the detection of heterogeneous diseases, and the use of NGS also has contributed significantly in evaluating the etiology of heterogeneous disease. Here, we employed targeted NGS to screen 248 genes involved in genetic skeletal disorders, including congenital hand malformations. Three pathogenic mutations located in the GJA1, ROR2 and TBX5 genes were detected in three large Chinese families with congenital hand malformations. Two novel mutations were reported, and a known causative mutation was verified in this Chinese population. This is also the first report that the same panel of targeted NGS was employed to perform molecular diagnosis of different subtypes of congenital hand malformations. Our study supported the application of a targeted NGS panel as an effective tool to detect the genetic cause for heterogeneous diseases in clinical diagnosis.

Some Experience on Thumb Reconstruction Using 3D Printing Technology

We have experience on thumb reconstruction using 3D printing technology in three main aspects. First, 3D printing technology improved accuracy in measuring the reconstructed thumb bone length. Second, we used mirroring technology to obtain the 3D image of normal shape of the injured thumb. Third, we used the bone segment model printed for accurate preoperative design and simulation of the operation. We also used models for preoperative communication. In future work, we plan to focus on the procedures and standardization of the 3D printing technology in thumb reconstruction. We intend to use 3D printing technology in the treatment of congenital hand malformations and to explore micro-3D technology.

Reliable Flaps for Congenitally Malformed Hands

Congenital hand malformations are rare, but hand function and aesthetics cannot be improved by surgery in every affected child. However, whenever this is possible, it is important to create an individual surgical plan for each child. Growth has to be taken into account in the accurate planning of incisions and local flaps. Just because it is technically possible, not every flap should be used in the malformed child's hand. In the following article, we present a collection of reliable flaps in the surgery of the congenitally malformed hand.

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.

Symbrachydactyly.

Background: Symbrachydactyly is a unilateral congenital hand malformation characterized by failure of formation of fingers and the presence of rudimentary digit nubbins. The management is variable and are investigated in this review. Methods: A detailed review of the literature was compiled into succinct clinically relevant categories. Results: Etiology, classification, non-surgical management, surgical intervention, and patient oriented outcomes are discussed. Conclusions: All interventions should prioritize realistic, evidence-supported appearance and functional gains. Studies of the baseline function and quality of life of children with symbrachydactyly would allow surgeons to better understand functional changes associated with various interventions and would help surgeons and parents to make the best treatment decisions.

Identification of a novel familial FGF16 mutation in two cases of MF4

Background Metacarpal 4-5 fusion (MF4) is a rare congenital hand malformation characterised primarily by ulnar deviation of the fifth finger, clinodactyly, shortening of the fifth metacarpal and reduced mobility of the fifth finger. A small number of familial cases have been described in the literature, consistent with X-linked recessive inheritance. In May 2013 causative mutations in the FGF16 gene were identified in two unrelated patients with MF4.[1] This prompted the sequencing of FGF16 in half-brothers with MF4, with a view to identifying a possibly causative mutation.

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.

Classification of dorsal and ventral dimelia in humans

Dorsal dimelia (appearance of dorsal structures on the palmar aspect of the hand) and ventral dimelia (appearance of palmar structures on the dorsal aspect of the hand) are rare congenital hand malformations that occur due to errors of the dorso-ventral axis of development of the limb. The current literature includes numerous cases and there is now sufficient basic science/genetics research on the topic so that a classification of dorsal/ventral dimelia could be proposed. Dorsal dimelia is subclassified into two types: distal (dorsalization of the digits ± distal palm) and proximal (dorsalization of the proximal palm only) types. Ventral dimelia is classified into three types (mild, moderate, and severe) according to the degree of ventralization. The classification is supported by the genetic basis of each subtype.