Hand Anomalies Research Articles

Addressing the neglected landscape of congenital hand anomalies

Addressing the neglected landscape of congenital hand anomalies

Evaluation of hexagonal flap for Syndactyly repair

Background and objective: Syndactyly is among the most commonly treated hand anomalies by plastic surgeons. Since the 1800s,over 46 corrective procedures have been described. These techniques involve using different flap designs and full-thickness skin graft or depending on graftless techniques to achieve the goals. Some articles concluded that graftless techniques have shorter operative times and fewer postoperative complications. The aim of the study is to evaluate the use of a local "hexagonal" dorsal advancement flap (HDAF) for syndactyly repair without using a skin graft. Methods: Between March 2021 and March 2022, we operated on 18 subjects (25 web spaces) in Rizgary and Hawler teaching hospitals in Erbil. Our study subjects were children and adults with different types of syndactyly (congenital, recurrent, and post-burn). We studied the early outcomes of using HDAF and straight-line incision for syndactyly repair. Results: The patients' ages ranged from 1.5 to 50 years, and the mean follow-up period was 6.3 months (1-13 months). The mean operation time was 98.5 minutes (40-160 minutes). Wounds were closed primarily without skin graft in 96% of the cases. We encountered neither a flap loss nor recurrences of syndactyly. The mean abduction angle achieved was 36.5º. All patients and their caregivers were satisfied with the aesthetic outcome. Conclusion: Syndactyly repair using a hexagonal dorsal advancement flap and straight-line separation of the fingers is a safe and straightforward technique regardless of age and syndactyly class or type. It results in a relatively short procedure with good-looking and well-functioning fingers.

Hand Intrinsic Hemihypertrophy Associated with Absence of Carpal Tunnel and Hand Anomalies - Case Report

Hand Intrinsic Hemihypertrophy Associated with Absence of Carpal Tunnel and Hand Anomalies - Case Report

Optimizing Surgical Outcomes in Congenital Syndactyly: Evaluation of Flap and Graft Techniques in Older Pediatric Patients.

Background Congenital syndactylyis a common congenital hand anomaly that impairs daily activities and impacts both functional and aesthetic outcomes. The fusion of adjacent fingers limits functionality and often requires surgical intervention to restore web spacing, maintain function, and improve appearance. This study evaluates surgical outcomes of congenital syndactyly treatment using flap and graft techniques, focusing on older patients. Methodology This study utilized retrospective data collected from patients aged 2 to 12 years diagnosed with congenital syndactyly. These patients underwent surgical separation procedures employing various flap techniques and full-thickness skin grafts. The chosen methods aimed to minimize scarring, secure optimal blood supply, and reduce postoperative complications. Postoperative assessments included web spacing, aesthetic appearance, and functional recovery. Results Patients generally experienced improved web spacing and proper alignment, with minimal contracture post-surgery. Flap and graft techniques effectively reduced visible scarring and provided favorable cosmetic results. Functional recovery was significant, allowing patients to resume age-appropriate tasks with minimal limitations, thereby restoring confidence in daily activities. Despite not undergoing early surgery, older patients still achieved marked improvements in web spacing, aesthetics, and overall function. Conclusions Surgical treatment of congenital syndactyly using flap and graft techniques significantly enhances both functional and aesthetic outcomes, even when the intervention is delayed beyond the recommended early age. Comprehensive planning and tailored approaches are crucial to achieving optimal web spacing, minimized scarring, and restored hand function. These measures ultimately improve the quality of life for patients, regardless of age at the time of surgery.

Variations in the Central Mode Water in the North Pacific as a manifestation of the Pacific Decadal Oscillation

The North Pacific Central Mode Water (CMW) is examined from the viewpoint of its volume variations. The volume of the CMW layers thicker than 150m\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$150 m$$\\end{document} is used as an index of CMW variations, which successfully represents the year-to-year and decadal variations in the CMW volume. The CMW index shows the variation close to that of the Pacific Decadal Oscillation (PDO). The CMW variation is strongly tied with large-scale, dominant variations in sea surface temperature (SST), surface dynamic height (SDH), and sea surface height (SSH) anomalies in the North Pacific, with a significant correlation with the PDO. Year-to-year and decadal variations of CMW volume in May to July are significantly correlated with the wintertime Aleutian Low and 500hPa\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$hPa$$\\end{document} geopotential height variations, which indicates that the Aleutian Low induces the eastward extension/retreat of the strong winter westerlies and resultant net surface heat flux anomaly over the CMW distribution region. Thus, the CMW volume variation can be regarded as a significant manifestation of the PDO. The SST, SDH, and SSH anomalies are associated with the surface cooling in the northern sector of the CMW distribution region. On the other hand, the SDH and SSH anomalies throughout a year and the SST anomaly in the cold season in the southeastern sector of the CMW region are formed due to the heaving of isopycnal surfaces in the subsurface layer above the CMW in response to its volume variations.

Association of Vitamin D Levels and Handgrip Strength among Patients with Hypothyroidism: A Cross-sectional Study Design

Abstract Introduction: There is a notable association between hypothyroidism and reduced muscle function as well as compromised neuromuscular coordination. In this study, we aimed to investigate the potential link between Vitamin D and handgrip strength (HGS) in patients with hypothyroidism. Methods: The study involved 40 patients diagnosed with hypothyroidism and subclinical hypothyroidism while excluding individuals with hypothyroid medications, cardiovascular, pulmonary, renal, neurological, reproductive disorders, hand anomalies, Parkinson’s disease, and Vitamin D supplementation. They were evaluated for T3, T4, and thyroid-stimulating hormone (TSH) levels, HGS, and serum Vitamin D levels; triceps fold was measured using a Lange caliper, and a correlation between these variables was assessed. Results: The mean age of the study group was 39.95 ± 6.41 years, with the majority falling in the age group of 41–50 years. A female preponderance (70%) was observed among the study group. The mean value for Vitamin D and HGS was 14.69 ± 6.12 ng/ml and 19.65 ± 5.38 kg, respectively. The mean values for T3, T4, and TSH were 47.23 ± 14.56 ng/dl, 5.86 ± 2.12 μg/dl, and 18.28 ± 7.64 mIU/ml, respectively. A robust, significant positive correlation was found between HGS and Vitamin D (r = 0.42, P < 0.01). The correlation between body mass index (BMI) and Vitamin D was moderately positive but was not statistically significant (r = 0.26, P > 0.01). No significant correlation was observed between Vitamin D and T4, TSH, and triceps fold. A moderate negative correlation was observed for TSH and BMI but was insignificant (r = −0.27, P > 0.05). Conclusion: A strong, significant positive correlation was found between HGS and Vitamin D, while BMI showed moderate positive correlations. No significant correlation was found between Vitamin D, T4, TSH, or triceps fold.

“As a parent, I want to do more for my child”: A phenomenological approach to understanding the experiences of parents involved in surgical decision-making for children with congenital hand anomalies

BackgroundA congenital anomaly of the hand can affect both function and appearance, and places a stressful psychological burden on the family, especially parents. Surgery during infancy may prevent later disabilities, but little is known of the importance of parents’ involvement in these decisions in terms of psychological adjustment or treatment satisfaction. ObjectiveTo understand parents' perceptions of involvement in their child's surgery for limb anomaly, and their preferences for the support of healthcare professionals. Results should lead to recommended interventions to improve familial adjustment to the child's condition. MethodsQualitative data was collected from semi-structured confidential self-reported interviews of 35 parents (65.7 % mothers) of children who had received reconstructive surgery for congenital hand anomaly (at age 24.89 ± 9.26 months); interviews were coincident with the 1-month postoperative follow-up. The parents ranged in age, gender, educational background, economic status, and type of anomaly. Data analysis referenced Colaizzi's phenomenological approach. ResultsThe concerns of the parents were consolidated into three themes: attitudes toward Parental involvement in surgical decision-making; status of parental involvement in Surgical decision-making; and need for help and support. ConclusionSome parents were comfortable leaving surgical decisions entirely to the medical staff, but most preferred active participation and were disappointed at their lack of inclusion. The maximum benefit from surgery for congenital abnormalities in infancy is achieved when the parents and extended families have access to the expertise, skills, encouragement, and psychological support of healthcare providers.

Clinical, genetic, and orthopedic characteristics of large group of patients with diastrophic dysplasia

BACKGROUND: Diastrophic dysplasia (OMIM #222600) is a rare congenital autosomal recessive skeletal dysplasia associated with homozygous or compound-heterozygous variants in the sulfate transporter gene SLC26A2. Clinical and radiological descriptions of diastrophic dysplasia in patients of different ages will help improve the diagnosis and orthopedic treatment.
 AIM: To describe clinical and genetic characteristics of Russian patients with diastrophic dysplasia caused by previously described and newly identified pathogenic SLC26A2 variants.
 MATERIALS AND METHODS: A comprehensive examination of 28 Russian patients from 28 unrelated families aged 3 months to 34 years with clinical and radiological signs of diastrophic dysplasia was performed. To confirm the diagnosis, genealogical analysis, clinical examination, radiography, and targeted research of SLC26A2 using direct Sanger sequencing were performed.
 RESULTS: Typical clinical and radiological signs sufficient for diagnosing diastrophic dysplasia in newborns have been identified, which included rhizo/mesomelic shortening of the upper and lower extremities, congenital clubfoot, hand anomalies, multiple dislocations, and joint contractures. In our patients, 14 SLC26A2 variants were identified, 9 of which were first discovered. The most common variant identified in Russian patients with diastrophic dysplasia was c.1957TA (p.Cys653Ser), which accounted for 50% of the alleles.
 CONCLUSIONS: Clinical and genetic analyses of Russian patients with diastrophic dysplasia made it possible to identify the core clinical and radiological signs and evaluate the polymorphism of the clinical manifestations of the disease. In contrast to previously examined patients from European populations (including Finland with the largest number of patients with diastrophic dysplasia), 50% of the cases in the Russian population are caused by the c.1957TA (p.Cys653Ser) homozygous or compound-heterozygous variant.

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing

Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with SALL1 (Spalt like Transcription Factor 1), is reported to be present in 1:238,000 individuals in the general population. TBS is characterized by the triad of anorectal malformations, dysplastic ears, with or without hearing impairment, and hand or thumb anomalies. Although kidney involvement is less common in TBS, the disease can progress to kidney failure. Here, we sought to characterize the incidence of SALL1 variants in individuals undergoing broad-based genetic testing with a kidney gene panel and to quantify the presence of (extra)renal features. A retrospective analysis of the genetic data from a 385-gene panel identified cases with a pathogenic (P) or likely pathogenic (LP) variant in SALL1. Data including age, features, and disease progression were collected. Of 35,044 samples, P or LP variants in SALL1 were identified in 22, yielding a prevalence of 1:1592 among patients tested for monogenic kidney disease, and 1:342 among cases identified with a monogenic kidney disease. Among this cohort, the median patient age was 23 years (range: 3 months-62 years) with chronic kidney disease (CKD) reported in 91% (20/22) of cases. Reported kidney features included renal agenesis/hypoplasia (7/22; 32%), focal segmental glomerulosclerosis (4/22; 18%), and kidney cysts (3/22; 14%). Confirmed extrarenal features included hearing loss and/or ear features (7/22; 32%), anorectal malformations (6/22; 27%) and hand or thumb abnormalities (4/22; 18%). Three patients (3/22; 14%) had both a priori TBS diagnoses and the traditional "triad." Traditionally, a molecular diagnosis was ascertained primarily in individuals presenting with cardinal features of TBS; therefore, individuals with mild or atypical presentations were often overlooked clinically. Our findings reveal that SALL1 P/LP variants could be a consequential contributor to monogenic kidney disease.

Congenital hand differences: a comprehensive literature review

Upper extremity anomalies are the second most common type of congenital malformations. Approximately 1% to 3% of newborns are born with congenital anomalies, and among them, roughly 10% have upper extremity anomalies. Congenital hand anomalies are often isolated phenomena but may also coexist with other congenital anomalies or syndromes. These anomalies cause not only aesthetic concerns, but also significant functional deficits and psychological issues for children and their families. Surgeons should conduct a thorough examination to make an accurate diagnosis and provide appropriate treatment or refer the patient to a specialized clinic if necessary. Operative procedures should aim to restore both function and aesthetics. This article reviews the embryology of the hand, the classification of congenital hand anomalies, and the clinical features and treatment of common major congenital hand anomalies.

A rare case report of left-sided Poland syndrome in females with hand anomalies and aplastic anemia with pancytopenia

A rare case report of left-sided Poland syndrome in females with hand anomalies and aplastic anemia with pancytopenia

Practice Profile of Practicing Plastic Surgeons: A 20-year Review of Plastic Surgery Statistics.

Evaluation of practice patterns by American Board of Plastic Surgery (ABPS) diplomates allows for a greater understanding as to how the field is progressing. Understanding evolving procedural trends can give insight into plastic surgeons' subspecialty focus and influence resident training to prepare them for future practice. American Society of Plastic Surgeons member only projections for aesthetic and reconstructive procedures were reviewed from 1999 to 2018 in 5-year increments to identify shifts in frequency between the beginning (1999-2003) and end (2014-2018) of the timeframe. Tracer utilization for all four ABPS modules were also examined between 2014 and 2018. Descriptive statistics were performed to identify significant changes (P < 0.05) in subspecialty focus and procedure trends. Annual procedure incidence between 2014 and 2018 was compared with that between 1999 and 2003. The annual number of procedures more than doubled from 3,244,084 to 6,628,082. Among reconstructive procedures, there was a statistically significant increase in the number of breast reconstruction, breast implant removal, and maxillofacial surgery procedures, and a statistically significant decrease in the number of procedures focused on reconstruction of birth defects, burn injuries, and hand anomalies. In aesthetic surgery, significant increases were seen in the number of augmentation mammoplasty, abdominoplasty, and mastopexy procedures, with significant decreases in the number of blepharoplasty and rhinoplasty procedures. Understanding the changing practice patterns of ABPS diplomates is essential to define the direction that our specialty is taking over time, and to guide program directors in plastic surgery on areas of focus for appropriate training of plastic surgeons.

Detection of the de novo Pro253Arg Mutation of Fibroblast Growth Factor Receptor 2 (FGFR2) in a Pediatric Patient with Congenital Hand Anomaly

Congenital hand deformities are a group of birth defects related to abnormal development of soft, cartilage, or bone tissues in the hands. Recent studies have indicated that the most usual reason of congenital hand anomalies are due to the genetic factors. In this study, we sequenced the exome of a 2.5-year-old female patient case with bilateral hand deformity. Results revealed that the patient did not carry mutations in the expression region of the GLI3 and SHH genes. However, the patient did have a heterozygous mutation: FGFR2: c.C758G, p.P253R. Sanger sequencing confirmed this was a de novo mutation as it was not detected in the parents. In silico analyses indicated that P253R has a potential effect to alter the structure and function of the fibroblast growth factor receptor, consequently disrupting the processes involved in the formation and development of bone and cartilage tissues. Overall, this research will contribute to a better understanding of the role and functionality of the FGF molecular signaling network in the development and synthesis of bone and cartilage tissues, particularly during the embryonic stage.

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.

Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping clinical features which, sometimes, become more pronounced with age. Distinctive face, cardiac and skeletal defects are among the primary abnormalities seen in these patients. Skeletal dysmorphisms range from mild to severe and may include anterior chest wall anomalies, scoliosis, kyphosis, short stature, hand anomalies, muscle weakness, osteopenia or/and osteoporosis. Patients usually have increased serum concentrations of bone resorption markers, while markers of bone formation are within normal range. The causative molecular defects encompass the members of the Ras/MAPK/ERK pathway and the adjacent cascades, important for the maintenance of normal bone homeostasis. It has been suggested that modulation of the expression of specific molecules involved in the processes of bone remodeling may affect the osteogenic fate decision, potentially, bringing out new pharmaceutical targets. Currently, the laboratory imprint of bone metabolism on the clinical picture of the affected individuals is not clear, maybe due to the rarity of these syndromes, the small number of the recruited patients and the methods used for the description of their clinical and biochemical profiles.

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

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

A Comprehensive Review on Down Syndrome Diagnosis and Associated Genes: Diagnosis of DS

Down syndrome (DS) is an inherited genetic disease characterized with the trisomy of chromosome 21. The major clinical presentation of DS is intellectual disability which is seen among 12-15% of DS patients in the developed countries. Increased maternal age over 30 years increases the risk of having DS child. DS affects various organ systems causing cardiac disorders, GI abnormalities, hematological anomalies, endocrine disorders and skin diseases along with morphological anomalies of face, feet and hands. The current review aims at outlining the genes associated with cardiac, GI and hematological disorders seen in DS patients along with DS itself and also widely used diagnostic tools in identifying the disorder.

Perceptions of finger-amputated hand appearance and its effects on social life from the perspectives of affected and unaffected individuals

Aims: Traumatic finger amputation leads to dysfunction and disfigurement of the hand. Hand disfigurements can affect the social lives of affected individuals. The purpose of this study was to investigate affected and unaffected individuals' perceptions of finger-amputated hand appearance and its effects on social life.&#x0D; Methods: A group of 26 finger-amputated individuals completed a questionnaire assessing the impact of their hand appearance on their social lives and rated their hand appearance using a visual analogue scale (VAS). Hand photographs of members of this group were shown to 50 unaffected individuals, who were asked to rate their appearance using the VAS and complete a questionnaire assessing their reactions to similar hands encountered during daily life. &#x0D; Results: In the patient group, the mean VAS and questionnaire scores were 5.1±2 (range: 1–10), and 60.3±17 (range: 31–94), respectively. In the assessor group, the mean VAS score for all 26 hand photographs was 7.1±2 (range: 3–9) and the mean questionnaire score was 83.6±11 (range: 56–100). While the patients' and assessors' VAS scores were significantly correlated for each hand photograph (r=0.511, p=0.008), in total, 21 of the 26 VAS scores were lower for the patient than assessor group. The VAS and questionnaire scores in the patient group improved significantly with time since amputation (p =.00 and p=0.011, respectively).&#x0D; Conclusion: The self-evaluation results of the affected group were worse than those of the unaffected group in terms of perceptions of appearance and the resultant effects on their social lives. We conclude that individuals without finger-amputated hands perceived hand disfigurements less negatively than affected patients. This knowledge may aid the psychosocial support of patients with hand anomalies.

Caregiver Versus Surgeon Concerns in New Diagnosis of Congenital Hand and Upper Extremity Anomalies

The initial office visit can be a stressful time for families with children with congenital upper extremity differences. These families may have concerns that differ from the information that pediatric hand surgeons believe is important to discuss. The purpose of this study was to compare topics that families and surgeons believe are most important to address at the initial office visits to better inform and guide that visit. Qualitative interviews were conducted with 15 pediatric hand surgeons and 17 caregivers of children with congenital upper extremity differences. Interviews were conducted using semi-structured guides. Interviews were recorded, transcribed, and analyzed using thematic analysis to identify recurring themes from both study groups. Overarching themes were similar between the groups and included diagnosis/cause, treatment, psychosocial considerations, future outcomes, and further resources. However, emphasis among these themes differed, with surgeons emphasizing the cause and events leading up to the diagnosis and caregivers preferring to discuss next steps and treatment options. Surgeons also discussed feelings of grief or guilt more commonly than the caregivers. Although surgeons emphasize the cause and psychosocial impact of a newly diagnosed congenital upper extremity difference at the initial office visit, caregivers mostly focused on the future and next steps that can be taken. Surgeons should ensure to address these issues so that families are comfortable with the treating surgeon and believe that their concerns are being adequately addressed.

Congenital hand anomalies and rare syndromes in children

Congenital hand anomalies and associated rare syndromes in children are commonly seen in clinical practice and require complete clinical, radiological and genetic evaluation. The purpose of this case series is to describe four rare syndromic children with varied hand anomalies and differences. Three of the children are female and one is a male. Distal limb defects from simple polydactyly, clinodactyly to cleft hand were identified including preaxial anomalies. Significant clinical problems noted were chiefly cosmetic and altered self-image was also noted in one child. The orofacial clefting noted in the child with ectrodactyly ectodermal dysplasia (EEC) syndrome required repeated surgery though the child had minimal feeding difficulty and significant speech delay. Multidisciplinary management is necessary with the early involvement of clinical geneticist.

Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13

BackgroundHand-Foot-Genital Syndrome (HFGS) is an autosomal dominant disorder characterized by a broad phenotypic spectrum. Variants in HOXA13 gene were associated with HFGS. To date, only twenty families with HFGS have been reported. However, the challenge in HFGS is the limited sample sizes and phenotypic heterogeneity. The advent of next-generation sequencing has permitted the identification of patients with HOXA13 variants who do not manifest with the full HFGS syndromic features. MethodsTrio (parents-proband) Whole-exome sequence(WES) and whole-genome sequencing(WGS) was carried out in this study to investigate the underlying pathogenic genetic factor of the neonate with a wide variety of clinical abnormalities. ResultsNo possible pathogenetic variation was detected by trio-WES, and a duplication variant in HOXA13 (c.360_377dup, p.Ala128_Ala133dup), inherited from her mother, was identified by the subsequent WGS in the proband with malnutrition, feeding difficulties, electrolyte disorders, metabolic acidosis, recurrent urinary tract infections, hydronephrosis, nephrolithiasis, abnormal ureter morphology, cholelithiasis, uterus didelphys. Sequence analysis of the variant region (exon1) indicated a high GC content of 73.92%. In addition, further enquiry of the family history revealed that 5 members of the family in 4 generations had hand and foot anomalies. ConclusionThe neonate was diagnosed with HFGS by genetic analysis. GC content had less influence on sequence coverage in WGS than WES analysis. This was the first report of trio-WGS study for HFGS genetic diagnosis, revealed that subsequent WGS was necessary for identification of potentially pathogenic variants in unexplained genetic disorders.