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Hand (New York, N.Y.) Nov 2022Surgical excision for postaxial polydactyly type B is advocated to avoid long-term complications. Excision with local anesthesia (LA) in infancy represents a safe and...
BACKGROUND
Surgical excision for postaxial polydactyly type B is advocated to avoid long-term complications. Excision with local anesthesia (LA) in infancy represents a safe and effective treatment for this condition, although general anesthesia (GA) is employed by many surgeons. We present a comparison of surgical outcomes, cost, and time between LA and GA to support widespread change in management.
METHODS
A retrospective review of patients under 12 months of age undergoing surgical polydactyly excision by a single surgeon was performed. Anesthesia type, patient demographics, and complications were recorded. Comparisons were made between LA and GA groups on procedure cost, operating time, length of stay (LOS), and time from procedure end to discharge. Stepwise forward regression was used to identify the best model for predicting total costs.
RESULTS
Ninety-one infants with a mean age of 3 months (±1.9) were examined; 51 (56%) underwent LA alone, 40 (44%) underwent GA. Mean operating time was 11.53 ± 4.36 minutes, with no difference observed between anesthesia groups ( = .39). LA infants had a significantly shorter LOS (2.5 vs 3.5 hours; < .05), quicker postoperative discharge (32 vs 65 minutes, < .05), and fewer overall expenses, 2803 vs 6067 U.S. dollars (USD), < .05. Two minor surgical complications (1 in each group) were reported.
CONCLUSIONS
This study demonstrates significantly decreased cost, LOS, and time to discharge using LA alone for surgical excision of postaxial polydactyly type B. Results suggest the approach is quick, economical, and avoids the risks of GA in early infancy.
Topics: Infant; Humans; Anesthesia, Local; Polydactyly; Toes; Anesthesia, General
PubMed: 33631987
DOI: 10.1177/1558944721994255 -
BMC Ophthalmology Jan 2021Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma...
BACKGROUND
Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient.
CASE PRESENTATION
A 15-year-old girl with diagnosis of SWS presented to our hospital. She had bilateral glaucoma and extensive port-wine stains distributing in bilateral faces, left neck and left upper limb. Meanwhile, the patient was noted to demonstrate the superfluous digit attaching on the left thumb and was diagnosed as polydactyly. Trabeculectomy, with intraoperative application of mitomycin C and postoperative subconjunctival injections of 5-fluorouracil, was successful in controlling the intraocular pressure in both eyes.
CONCLUSIONS
We report a case with bilateral SWS coexisting with unilateral polydactyly, which, to our knowledge, has not been recognized previously and adds further evidence to the existing literature. In view of the rare concurrence of SWS and polydactyly, the etiology is unclear and further investigation is required to explore the underlying pathogenesis.
Topics: Adolescent; Choroid Neoplasms; Female; Glaucoma; Hemangioma; Humans; Polydactyly; Sturge-Weber Syndrome
PubMed: 33407220
DOI: 10.1186/s12886-020-01761-x -
Journal of Orthopaedic Surgery (Hong... Dec 2006To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification.
PURPOSE
To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification.
METHODS
Between 1993 and 2000 inclusive, out of the patients with thumb polydactyly (involving 80 thumbs) operated on, 34 patients (36 thumbs) were available for review and underwent clinical and radiological assessment. Outcomes in terms of the Tada score and complications were recorded.
RESULTS
The mean age of patients at the time of operation was 2.8 (range, 0.6-47) years. The mean follow-up period was 5 (range, 2.4-10) years. According to the Wassel classification, 12 were type-II thumb polydactyly, 3 type-III, 11 type-IV, 6 type-V, one type-VI, and 3 type-VII. There was no perioperative mortality or wound infection. More than 88% of the patients were satisfied or very satisfied with functional and cosmetic outcomes. Postoperative complications such as scar hypertrophy, pulp atrophy, joint deformity, and instability were common but minor. Ridge nail deformity after the Bilhaut Cloquet procedure was amenable to secondary corrective procedures. All types of operated thumb polydactyly achieved similar mean Tada scores (14.7- 16.6 out of 20). The Wassel classification category, age, and surgical procedures were found to have no prognostic value with regard to the Tada score and presence of complications.
CONCLUSION
Surgery on thumb polydactyly is rewarding. The Wassel classification category can be used as a guide for treatment, although it fails to predict the occurrence of postoperative complications or Tada scores. Our patients' results can serve as guidelines of expected outcomes after reconstructive procedures in different sub-types of thumb polydactyly.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Middle Aged; Polydactyly; Plastic Surgery Procedures; Thumb
PubMed: 17200532
DOI: 10.1177/230949900601400312 -
Canadian Journal of Surgery. Journal... Oct 2005Lipofibromatous harmartoma (LFH) is a rare tumour that requires early diagnosis and treatment. To alert physicians to the possibility of this tumour, we review the... (Review)
Review
BACKGROUND
Lipofibromatous harmartoma (LFH) is a rare tumour that requires early diagnosis and treatment. To alert physicians to the possibility of this tumour, we review the epidemiologic and pathological characteristics, the presentation, diagnosis and treatment of LFH in the upper extremity.
METHODS
We obtained data from a MEDLINE search of the English literature from 1966 to June 2003, using the search terms "lipofibromatous," "hamartomas of the nerve," "macrodactyly" and "intraneural lipoma."
STUDY SELECTION
Articles that demonstrated institutional experience (epidemiologic, diagnostic and therapeutic, and complications) and those that provided general reviews were selected for inclusion. Of 501 identified articles, 42 fulfilled the review criteria.
DATA EXTRACTION
Relevant clinical, diagnostic and therapeutic evaluations were extracted from the literature and synthesized.
DATA SYNTHESIS
LFH is distinguished pathologically from other intraneural tumours by fibrofatty infiltration around the nerve fascicles. Typically, patients present either early with macrodactyly or later with a forearm mass lesion or symptoms consistent with a compressive neuropathy of the affected nerve. Although MRI is an important tool in the diagnosis of LFH, the diagnosis should be supported with a tissue biopsy. Treatment for patients with no neurologic deficit involves prophylactic decompression of affected nerves at all points of possible compression. Patients with macrodactyly may benefit from debulking, joint reconstruction or amputation.
CONCLUSIONS
LFH differs from other benign nerve tumours with respect to clinical presentation, pathological characteristics, MRI features and management. Because LFH is extensive and inseparable from the nerve fascicles, excision is not recommended.
Topics: Fingers; Hamartoma; Humans; Magnetic Resonance Imaging; Peripheral Nervous System Diseases; Polydactyly; Ulnar Nerve Compression Syndromes
PubMed: 16248139
DOI: No ID Found -
Journal of Medical Genetics Jun 2021Pathogenic DNA variants in the GLI-Kruppel family member 3 ( gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4)...
INTRODUCTION
Pathogenic DNA variants in the GLI-Kruppel family member 3 ( gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the correlation between reported limb anomalies and the reported variants in these GLI3-mediated polydactyly syndromes. We identified two subclasses of limb anomalies that relate to the underlying variant.
METHODS
Both local and published cases were included for analysis. The presence of individual limb phenotypes was dichotomised and an exploratory LCA was performed. Distribution of phenotypes and genotypes over the classes were explored and subsequently the key predictors of latent class membership were correlated to the different clustered genotypes.
RESULTS
297 cases were identified with 127 different variants in the gene. A two-class model was fitted revealing two subgroups of patients with anterior versus posterior anomalies. Posterior anomalies were observed in cases with truncating variants in the activator domain (postaxial polydactyly; hand, OR: 12.7; foot, OR: 33.9). Multivariate analysis supports these results (Beta: 1.467, p=0.013 and Beta: 2.548, p<0.001, respectively). Corpus callosum agenesis was significantly correlated to these variants (OR: 8.8, p<0.001).
CONCLUSION
There are two distinct phenotypes within the GLI3-mediated polydactyly population: anteriorly and posteriorly orientated. Variants that likely produce haploinsufficiency are associated with anterior phenotypes. Posterior phenotypes are associated with truncating variants in the activator domain. Patients with these truncating variants have a greater risk for corpus callosum anomalies.
Topics: Acrocephalosyndactylia; Genetic Association Studies; Genetic Variation; Humans; Latent Class Analysis; Limb Deformities, Congenital; Nerve Tissue Proteins; Polydactyly; Syndrome; Zinc Finger Protein Gli3
PubMed: 32591344
DOI: 10.1136/jmedgenet-2020-106948 -
Journal of Medical Genetics Jul 1996
Topics: Genetic Counseling; Hamartoma; Hand Deformities, Congenital; Humans; Hypothalamic Diseases; Magnetic Resonance Imaging; Phenotype; Polydactyly; Radiography
PubMed: 8818945
DOI: 10.1136/jmg.33.7.585 -
Pediatric Endocrinology, Diabetes, and... 2019Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic...
INTRODUCTION
Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic hamartoma often combined with hypopituitarism. PHS is characterized by significant variability in the expression of clinical symptoms. The clinical course ranges from mild with a good prognosis to severe and which can lead to death during the neonatal period.
CASE REPORT
Two-years-old girl with facial dysmorphia, skeletal malformations of hand and feet and growth hormone deficiency. PHS was diagnosed on the basis of the presented symptoms and genetic tests.
SUMMARY
Skeletal malformations, such as polydactyly or oligodactyly, are a markers which can be associated with endocrinological disorders. Quick and correct diagnosis would help in planning treatment during childhood and giving family counseling, including prenatal advice regarding the next pregnancy of the child's mother.
Topics: Child, Preschool; Female; Humans; Pallister-Hall Syndrome
PubMed: 32270976
DOI: 10.5114/pedm.2019.89253 -
Archivos Argentinos de Pediatria Dec 2022Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity,...
Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficit and hypogenitalism. Diagnosis is based on clinical features. Molecular genetic testing is available. There is no specific treatment, a multidisciplinary approach is required. We report the case of a 13-year-old female patient with obesity and hyperphagia, type 2 diabetes, hypothyroidism, polydactyly, cognitive deficit and visual impairment. A multigenic panel allowed the identification of two heterozygous pathogenic variants in the BBS2 gene.
Topics: Humans; Female; Adolescent; Bardet-Biedl Syndrome; Diabetes Mellitus, Type 2; Polydactyly; Obesity
PubMed: 36374067
DOI: 10.5546/aap.2022.e283 -
Cell Transplantation 2024This study compared the proliferation and differentiation potential of bone marrow-derived mesenchymal stem cells (BMSCs) derived from infants with polydactyly and...
This study compared the proliferation and differentiation potential of bone marrow-derived mesenchymal stem cells (BMSCs) derived from infants with polydactyly and adults with basal joint arthritis. The proliferation rate of adult and infant BMSCs was determined by the cell number changes and doubling times. The γH2AX immunofluorescence staining, age-related gene expression, senescence-associated β-galactosidase (SA-β-gal) staining were analyzed to determine the senescence state of adult and infant BMSCs. The expression levels of superoxide dismutases (SODs) and genes associated with various types of differentiation were measured using Real-Time Quantitative Polymerase Chain Reaction (RT-qPCR). Differentiation levels were evaluated through histochemical and immunohistochemical staining. The results showed that infant BMSCs had a significantly higher increase in cell numbers and faster doubling times compared with adult BMSCs. Infant BMSCs at late stages exhibited reduced γH2AX expression and SA-β-gal staining, indicating lower levels of senescence. The expression levels of senescence-related genes (, , and ) in infant BMSCs were also lower than in adult BMSCs. In addition, infant BMSCs demonstrated higher antioxidative ability with elevated expression of , , and compared with adult BMSCs. In terms of differentiation potential, infant BMSCs outperformed adult BMSCs in chondrogenesis, as indicated by higher expression levels of chondrogenic genes (, , and ) and positive immunohistochemical staining. Moreover, differentiated cells derived from infant BMSCs exhibited significantly higher expression levels of osteogenic, tenogenic, hepatogenic, and neurogenic genes compared with those derived from adult BMSCs. Histochemical and immunofluorescence staining confirmed these findings. However, adult BMSCs showed lower adipogenic differentiation potential compared with infant BMSCs. Overall, infant BMSCs demonstrated superior characteristics, including higher proliferation rates, enhanced antioxidative activity, and greater differentiation potential into various lineages. They also exhibited reduced cellular senescence. These findings, within the context of cellular differentiation, suggest potential implications for the use of allogeneic BMSC transplantation, emphasizing the need for further investigation.
Topics: Adult; Child; Humans; Bone Marrow; Cell Proliferation; Cell Differentiation; Osteogenesis; Cells, Cultured; Mesenchymal Stem Cells; Bone Marrow Cells; Arthritis; Polydactyly
PubMed: 38164917
DOI: 10.1177/09636897231221878 -
Computational and Structural... 2021Polydactyly is a highly heterogeneous group of skeletal deformities in clinical and genetic background. The variation spectrum in Chinese sporadic polydactyly has not...
PURPOSE
Polydactyly is a highly heterogeneous group of skeletal deformities in clinical and genetic background. The variation spectrum in Chinese sporadic polydactyly has not been comprehensively analyzed. To elucidate genetic variation spectrum and genotype-phenotype correlations in Chinese patients with polydactyly, we conducted comprehensive genetic analysis of patients nationwide using targeted sequencing.
METHODS
A total of 181 patients diagnosed with polydactylies were recruited. We designed a targeted capture panel for sequencing 721 genes that are associated with the pathogenesis of skeletal dysplasia. We performed rigorous variant- and gene-level filtrations to identify potentially damaging variants, followed by enrichment analysis and gene prioritization.
RESULTS
A total of 568 deleterious variants of 293 genes were identified in 173 of 181 patients with a positive rate of 95.6% by targeted sequencing. For each sample, an average of 3.17 deleterious variants were identified. Especially, 14 pathogenic or likely pathogenic variants were identified in 10 genes in 14 patients out of the 181 patients, providing a positive molecular diagnostic rate of 7.7%.
CONCLUSION
Targeted sequencing analysis provides a high efficiency approach for the genetic diagnosis of polydactyly. This is the largest next generation sequencing study performed to date in patients with polydactyly and represents the genetic basis of polydactyly typically encountered in genetics clinics.
PubMed: 34194672
DOI: 10.1016/j.csbj.2021.06.014