RESUMO
OBJECTIVE: To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020. METHODS: Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly. RESULTS: Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06 (95%CI: 16.78-17.33), 2.23 (95%CI: 2.13-2.33), and 0.74 (95%CI: 0.68-0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94, 2.07, 2.20, 2.54, and 2.48, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62, 0.66, 0.77, 0.81, and 0.89, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26 vs. 1.33, OR = 1.69, 95%CI: 1.52-1.87) and hand syndactyly (0.43 vs. 0.28, OR = 1.42, 95%CI: 1.14-1.76) were more common in males than females. Polydactyly (2.67 vs. 1.93, OR = 1.38, 95%CI: 1.26-1.51) and syndactyly (0.91 vs. 0.62, OR = 1.47, 95%CI: 1.26-1.72) were more common in urban areas than in rural areas. Compared to maternal age 25-29, hand polydactyly was more common in maternal age < 20 (2.48 vs. 1.74, OR = 1.43, 95%CI: 1.01-2.02) or ≥ 35 (2.25 vs. 1.74, OR = 1.30, 95%CI: 1.12-1.50). CONCLUSION: In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016-2020. Our findings make some original contributions to the field, which may be valuable for future research.
Assuntos
Anormalidades Congênitas , Polidactilia , Sindactilia , Masculino , Feminino , Humanos , Adulto , Polidactilia/epidemiologia , Sindactilia/epidemiologia , Idade Materna , China/epidemiologia , Prevalência , Anormalidades Congênitas/epidemiologiaRESUMO
BACKGROUND: Little is known about the epidemiologic features of syndactyly (SD) in Chinese newborns. METHODS: Using 2007-2019 data from the Chinese Birth Defects Monitoring Network, we conducted a prevalence analysis on overall, isolated and associated syndactyly according to birth year, maternal age, maternal residence, geographic region and infant sex, with special interests in time trends, perinatal outcomes and clinical phenotypes. RESULTS: A total of 13,611 SD cases were identified among 24,157,719 births in the study period, yielding the prevalence of 5.63, 4.66 and 0.97 per 10,000 for overall, isolated, and associated SD, respectively. The prevalence of each type of SD exhibited an upward trend over the period. The prevalence of overall SD varied significantly by maternal residence (urban vs. rural, 6.69/10,000 vs. 4.35/10,000), maternal age (< 20 years, 5.43/10,000; 20-24 years, 5.03/10,000; 25-29 year, 5.65/10,000; 30-34 years, 6.07/10,000; ≥ 35 years, 5.76/10,000), geographic region (central, 5.07/10,000; east, 6.75/10,000; west, 5.12/10,000), and infant sex (male vs. female, 6.28/10,000 vs. 4.86/10,000). Newborns with associated SD were more likely to be born prematurely (29.2% vs. 10.6%) or with low birthweight (30.5% vs.9.8%) than those with isolated SD. The bilaterally, and unilaterally affected cases accounted for 18.4% and 76.7%, respectively. The feet were more frequently involved (64.3%) in those bilaterally affected cases, while right side preference (right vs left: 53.8% vs 46.2%) and upper limbs preference (hand vs foot: 50.8% vs 48.0%) were found in unilateral cases. CONCLUSIONS: The prevalence of syndactyly in China is on the rise and notably higher than that in other Asian and European countries, highlighting the importance of investigating the etiology, epidemiology, and clinical implications of this condition in the Chinese population.
Assuntos
População do Leste Asiático , Sindactilia , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , China/epidemiologia , Recém-Nascido de Baixo Peso , Idade Materna , Prevalência , Sindactilia/epidemiologiaRESUMO
Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor-interacting serine/threonine kinase 4, which is critical for epidermal differentiation and development. RIPK4 variants are associated with a wide range of clinical features ranging from milder ectodermal dysplasia to severe BPS. Here, we evaluated a consanguineous Turkish family, who had two pregnancies with severe multiple malformations compatible with BPS phenotype. In order to identify the underlying genetic defect, direct sequencing of the coding region and exon-intron boundaries of RIPK4 was carried out. A homozygous transversion (c.481G>C) that leads to the substitution of a conserved aspartic acid to histidine (p.Asp161His) in the kinase domain of the protein was detected. Pathogenicity predictions, molecular modeling, and cell-based functional assays showed that Asp161 residue is required for the kinase activity of the protein, which indicates that the identified variant is responsible for the severe BPS phenotype in the family.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Anormalidades do Olho/genética , Dedos/anormalidades , Articulação do Joelho/anormalidades , Joelho/anormalidades , Deformidades Congênitas das Extremidades Inferiores/genética , Proteínas Serina-Treonina Quinases/genética , Anormalidades da Pele/genética , Sindactilia/genética , Anormalidades Urogenitais/genética , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Feto Abortado/patologia , Fenda Labial/epidemiologia , Fenda Labial/patologia , Fissura Palatina/epidemiologia , Fissura Palatina/patologia , Exoma/genética , Anormalidades do Olho/epidemiologia , Anormalidades do Olho/patologia , Feminino , Dedos/patologia , Predisposição Genética para Doença , Homozigoto , Humanos , Recém-Nascido , Joelho/patologia , Articulação do Joelho/patologia , Deformidades Congênitas das Extremidades Inferiores/epidemiologia , Deformidades Congênitas das Extremidades Inferiores/patologia , Mutação/genética , Fosforilação , Gravidez , Anormalidades da Pele/epidemiologia , Anormalidades da Pele/patologia , Sindactilia/epidemiologia , Sindactilia/patologia , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/patologiaRESUMO
BACKGROUND: The number of studies on air pollution with birth defects as the primary outcome has increased dramatically over the past two decades, but the potential role of specific air pollutants in congenital limb anomalies remains unclear. OBJECTIVES: To evaluate associations between preconception and first-trimester PM10 exposure and polydactyly and syndactyly in a population-based case-control study. METHODS: Polydactyly cases (n = 2605), syndactyly cases (n = 595), and controls without any birth defects (n = 7950) born between 2010 and 2015 were selected from the Maternal and Child Health Certificate Registry of Liaoning Province. The monthly mean PM10 concentrations were obtained from 75 air monitoring stations, and the exposure assessment was based on the mean concentration of all stations in mother's residential city. A multivariable logistic regression model was constructed to calculate adjusted odds ratios (aORs) and 95% confidence intervals (CIs). RESULTS: PM10 exposure was positively associated with the risks of polydactyly (preconception: aORT3 vs. T1 = 1.95, 95% CI 1.56-2.45, aOR = 1.06, 95% CI 1.01-1.10 [per 10-µg/m3 increment]; first-trimester: aORT3 vs. T1 = 2.51, 95% CI 2.00-3.15) and syndactyly (preconception: aORT3 vs. T1 = 2.86, 95% CI 1.98-4.13, aOR = 1.11, 95% CI 1.03-1.20 [per 10-µg/m3 increment]; first-trimester: aORT3 vs. T1 = 3.10, 95% CI 2.11-4.56). Analyses based on single month exposure windows basically showed similar positive associations. Additionally, these findings were robust in sensitivity analyses and broadly consistent across subgroups. CONCLUSION: Our study suggest that preconception and first-trimester PM10 exposures are related to increased risks of polydactyly and syndactyly.
Assuntos
Poluentes Atmosféricos , Poluição do Ar , Polidactilia , Sindactilia , Poluentes Atmosféricos/análise , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , Estudos de Casos e Controles , Criança , China/epidemiologia , Feminino , Humanos , Exposição Materna/efeitos adversos , Material Particulado/análise , Material Particulado/toxicidade , Polidactilia/induzido quimicamente , Polidactilia/epidemiologia , Gravidez , Sindactilia/induzido quimicamente , Sindactilia/epidemiologiaRESUMO
CONTEXT: Although congenital hand anomalies are among the more common musculoskeletal anomalies worldwide, we do not know its prevalence in our practice. AIMS: The aim of the study was to determine the pattern of congenital hand anomalies presenting to our tertiary plastic surgery outpatient service in South-Western Nigeria. MATERIALS AND METHODS: This is a cross-sectional retrospective analysis of outpatient cases of congenital hand anomalies presenting over a 10-year period. Descriptive and inferential statistics were performed using frequencies, Student's t-test and Chi-square as appropriate. The data were analysed using IBM SPSS Statistics 23.0. The statistical significance value was set at P < 0.05. RESULTS: One hundred and twenty-two cases were identified. The highest number of cases was seen in the year 2012, 23 patients (19.3%). There was a male preponderance of 66 patients (55.1%). Thirty-two patients (26.2%) presented as neonates and 36 (29.5%) as infants. Bilateral anomalies were seen in 67 patients (54.9%). The most common anomaly was failure of differentiation, 88 patients (72.1%) followed by duplication, 26 patients (21.3%). Syndactyly with 43 patients (35.2%) was the most common anomaly under failure of differentiation. No significant associations were found between the type of anomaly and gender or laterality. CONCLUSIONS: Syndactyly was the most common congenital hand anomaly in this study. There was a preponderance of bilateral involvement in both syndactyly and polydactyly.
Assuntos
Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/cirurgia , Procedimentos de Cirurgia Plástica/estatística & dados numéricos , Polidactilia/diagnóstico , Polidactilia/cirurgia , Centro Cirúrgico Hospitalar/estatística & dados numéricos , Sindactilia/diagnóstico , Sindactilia/cirurgia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Estudos Transversais , Deformidades Congênitas da Mão/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades Musculoesqueléticas/epidemiologia , Nigéria/epidemiologia , Polidactilia/epidemiologia , Estudos Retrospectivos , Distribuição por Sexo , Cirurgia Plástica , Sindactilia/epidemiologia , Adulto JovemRESUMO
AIMS: CACNA1C mutations have been reported to cause LQTS type 8 (LQT8; Timothy syndrome), which exhibits severe phenotypes, although the frequency of patients with LQT8 exhibiting only QT prolongation is unknown. This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. METHODS AND RESULTS: CACNA1C gene screening was performed in 278 probands negative for LQTS-related gene mutations. Functional analysis of mutant channels using a whole-cell patch-clamp technique was also performed. Using genetic screening, we identified five novel CACNA1C mutations: P381S, M456I, A582D, R858H, and G1783C in seven (2.5%) unrelated probands. Seven mutation carriers showed alternative clinical phenotypes. Biophysical assay of CACNA1C mutations revealed that the peak calcium currents were significantly larger in R858H mutant channels than those of wild-type (WT). In contrast, A582D mutant channels displayed significantly slower inactivation compared with WT. The two mutant channels exerted different gain-of-function effects on calcium currents. CONCLUSION: In patients with LQTS, the frequency of CACNA1C mutations was higher than reported. Even without typical phenotypes of Timothy syndrome, CACNA1C mutations may cause QT prolongation and/or fatal arrhythmia attacks.
Assuntos
Canais de Cálcio Tipo L/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Síndrome do QT Longo/epidemiologia , Síndrome do QT Longo/genética , Polimorfismo de Nucleotídeo Único/genética , Sindactilia/epidemiologia , Sindactilia/genética , Adolescente , Transtorno Autístico , Criança , Feminino , Marcadores Genéticos/genética , Testes Genéticos/estatística & dados numéricos , Variação Genética/genética , Humanos , Incidência , Japão/epidemiologia , Síndrome do QT Longo/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Fatores de Risco , Sindactilia/diagnósticoRESUMO
PURPOSE: Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. Major associated problems include neurologic, ophthalmologic, dental, and other skeletal abnormalities. The purposes of this study were to investigate the incidence of the reported associated conditions in the families of our patients with ODDD, correlate them with the severity of syndactyly, and provide better counseling with more accurate information for these patients and families. METHODS: We reviewed medical records from Texas Scottish Rite Hospital for Children from 1980 to 2009 to identify patients with ODDD. These patients and families were invited to return for a detailed medical and family history and physical examination documenting hand, foot, eye, dental, and facial findings. RESULTS: A total of 73 pediatric patients from 47 families were diagnosed with ODDD, and 38 individuals in 31 families agreed to participate in the study. We observed bilateral syndactyly in 32 patients, with symmetric involvement in 31 of these. Abnormalities of the shape and size of the middle phalanx of the small finger were common. Ophthalmological findings were present in 31 and dental abnormalities identified in 33 patients. Neurologic findings likely related to ODDD were found in 11 patients. There appeared to be an association between the severity of syndactyly and the severity of dental and urologic findings, but not ophthalmologic or neurologic findings such as paraparesis or cognitive deficits. CONCLUSIONS: We found a 29% incidence of neurologic manifestations in patients with ODDD. In addition, associated ophthalmologic, dental, and developmental conditions are frequent and a heightened awareness will allow appropriate referrals for patients with ulnar-sided syndactyly in ODDD. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.
Assuntos
Hipoplasia do Esmalte Dentário/diagnóstico , Deficiências do Desenvolvimento/genética , Anormalidades do Olho/diagnóstico , Dedos/anormalidades , Sindactilia/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Hipoplasia do Esmalte Dentário/epidemiologia , Hipoplasia do Esmalte Dentário/genética , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/fisiopatologia , Anormalidades do Olho/epidemiologia , Anormalidades do Olho/genética , Feminino , Humanos , Incidência , Lactente , Masculino , Linhagem , Prognóstico , Radiografia , Sistema de Registros , Estudos Retrospectivos , Medição de Risco , Sindactilia/diagnóstico , Sindactilia/epidemiologia , Síndrome , Adulto JovemRESUMO
BACKGROUND: Syndactyly is a common congenital condition that can present sporadically or in relation to an underlying genetic condition. Little contemporary published data exists detailing specific rates of presentation and surgical intervention, especially in Western European population. This is the first published review of operative intervention rates for the condition over time in Northern Ireland. METHODS: A ten-year retrospective review of electronic operative records from January 2007 - October 2017 was carried out within Northern Ireland's regional tertiary centre Royal Belfast Hospital for Sick Children (RBHSC). All congenital hand surgery in the country was performed here during the period reviewed, by a single surgeon. Patient age at surgical intervention, their sex, digits involved and clinical grade of syndactyly was recorded. RESULTS: One hundred and twenty four cases were returned following the review. On individual analysis 22 cases were excluded as they were not primary congenital syndactyly. The remaining 102 cases were all Caucasian. Six cases were toe syndactyly while 96 cases involved the upper limb digits. The group consisted of 70 males and 32 female infants. Age range at time of surgical intervention was 8 months to 14 years with a median age of 26 months. For clinical grade of upper limb syndactyly; 35 cases in the data set were classed as simple incomplete, 34 cases as simple complete, 17 as complex and 5 cases as complicated syndactyly. The remaining 5 cases lacked clear documentation. The most common site of syndactyly was between the ring and middle finger (40/102). Annual frequency of operative intervention has trended upwards in the period studied. CONCLUSION: This case review adds epidemiological data on the operative incidence of syndactyly cases in Northern Ireland - a relatively isolated genetic population. Overall rates of incidence have increased over the past 10 years. It remains unclear if this is due to new environmental influences on the developing population or increased referral for surgical intervention over time.Levels of evidence - IV (Case Series).
Assuntos
Sindactilia/epidemiologia , Sindactilia/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Irlanda do Norte/epidemiologia , Gravidade do Paciente , Estudos Retrospectivos , Procedimentos Cirúrgicos Operatórios/estatística & dados numéricosRESUMO
Evidence links exposure to maternal sulfur dioxide (SO2) and the risk of limb defects have been inconsistent. To investigate associations between SO2 exposure during preconception and the first trimester and risks of polydactyly and syndactyly. The study population was acquired from the Maternal and Child Health Certificate Registry of Liaoning Province between 2010 to 2015, and consisted of 2605 polydactyly, 595 syndactyly cases, and 7950 controls. Ambient air pollutants levels were retrieved from air quality monitoring stations. We used multivariable logistic regression model to assess the adjusted odds ratios (ORs) and 95% confidence intervals (CIs). We found that exposure to increased SO2 concentrations was associated with polydactyly during both the 3 months preconception (ORQ4 vs. Q1 = 3.76; 95% CI 2.61, 5.42; per 10 µg/m3 increment: OR = 1.07; 95% CI 1.04, 1.10) and the first trimester (ORQ4 vs. Q1 = 2.03; 95% CI 1.41, 2.92; per 10 µg/m3 increment: OR = 1.07; 95% CI 1.03, 1.11). However, we only observed increased risk for syndactyly in the analysis of high vs. low quartiles (three months preconception: ORQ4 vs. Q1 = 3.72; 95% CI 2.05, 6.75; first trimester: ORQ4 vs. Q1 = 1.98; 95% CI 1.11, 3.51). Most results of analyses based on single-month exposure window generally showed similar positive associations. Additionally, these findings were broadly consistent across subgroups and sensitivity analyses. Maternal SO2 exposure increase the risk of polydactyly and syndactyly.
Assuntos
Poluentes Atmosféricos , Poluição do Ar , Polidactilia , Sindactilia , Poluentes Atmosféricos/análise , Poluição do Ar/análise , Estudos de Casos e Controles , Criança , China/epidemiologia , Feminino , Humanos , Exposição Materna , Material Particulado/análise , Polidactilia/epidemiologia , Gravidez , Dióxido de Enxofre , Sindactilia/epidemiologiaRESUMO
PURPOSE: To describe radial longitudinal deficiency with hypoplastic or absent thumb and cutaneous syndactyly between the most radial digits. In addition, to discuss the clinical relevance and unique treatment decisions involved in optimizing functional outcomes in these patients. METHODS: A total of 163 extremities of 122 patients with radial longitudinal deficiencies were reviewed. We reviewed radiographs and clinical images that were available, with most radial hypoplastic digit and cutaneous syndactyly to the adjacent finger. RESULTS: There were 7 hands with this type of deformity. Four cases had a hypoplastic thumb associated with cutaneous syndactyly between the thumb and index finger. Three cases had a deformity in which the thumb was absent and the hypoplastic index finger was syndactylized to the long finger. Proximal and distal radioulnar synostoses were associated with these deformities in 3 patients. CONCLUSIONS: Because the most radial digit is severely hypoplastic in this type of deformity, pollicization is usually indicated. However, the pollicization procedure must be modified due to associated syndactyly with different degrees of hypoplasia or absence of the intrinsic muscles. This type of deformity should be distinguished from hypoplastic thumb without syndactyly. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Assuntos
Anormalidades Múltiplas/diagnóstico , Deformidades Congênitas da Mão/epidemiologia , Rádio (Anatomia)/anormalidades , Sindactilia/diagnóstico , Polegar/anormalidades , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/cirurgia , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/cirurgia , Humanos , Incidência , Lactente , Masculino , Radiografia , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Medição de Risco , Sindactilia/epidemiologia , Sindactilia/cirurgia , Sinostose/diagnóstico por imagem , Sinostose/epidemiologia , Sinostose/cirurgia , Polegar/diagnóstico por imagem , Polegar/cirurgia , Resultado do TratamentoRESUMO
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.
Assuntos
Procedimentos de Cirurgia Plástica , Cirurgiões , Sindactilia , Criança , Humanos , Masculino , Melhoria de Qualidade , Fatores de Risco , Sindactilia/epidemiologia , Sindactilia/cirurgiaRESUMO
Prolonged heart rate-corrected QT (QTc) interval is an independent risk factor for sudden cardiac death, which is the hallmark of Timothy syndrome (TS). There are little data on children with syndactyly and QTc prolongation.To evaluate the characteristics and long-term outcomes in children with syndactyly, and to attempt to identify TS in patients with syndactyly and QTc prolongation.This is a retrospective case-control study of children with syndactyly who visited Beijing Jishuitan Hospital between July 2003 and February 2013. The patients with prolonged QTc intervals are matched 1:4 with patients without prolongation. Genetic testing of the CACNA1C gene is routinely performed in patients with QTc prolongation.The mean age at admission is 3.4â±â2.3 years. Compared with the normal QTc group, those with QTc prolongation showed higher frequencies of congenital heart disease (11.8% vs 1.5%, Pâ=â.042), mental retardation and facial dysmorphia (11.8% vs 0, Pâ=â.004), and T wave alternans (23.5% vs 4.4%, Pâ=â.01). In the multivariable analysis, only T wave alternans (ORâ=â10.61, 95%CI: 1.39-81.16, Pâ=â.023) is independently associated with QTc prolongation in patients with syndactyly. One child with QTc prolongation had a mutation in the CACNA1C gene. No patients with prolonged QTs interval met the threshold for TS.Children with syndactyly and prolonged QTc interval had more multisystem diseases and electrocardiography abnormalities. T wave alternans is independently associated with QTc prolongation in patients with syndactyly.
Assuntos
Síndrome do QT Longo/epidemiologia , Sindactilia/epidemiologia , Canais de Cálcio Tipo L/genética , Estudos de Casos e Controles , Pré-Escolar , China/epidemiologia , Anormalidades Craniofaciais/epidemiologia , Eletrocardiografia , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Análise Multivariada , Mutação , Estudos RetrospectivosRESUMO
Split Hand Foot Malformation (SHFM) (cleft hand/foot, central ray deficiency) is a complex, highly variable anomaly involving the hands and/or feet. A clinical epidemiologic study of split hand/foot (central ray deficiency) of the Manitoba population identified a subset of patients who did not present with either typical or atypical split hand. Clinically, some patients presented with "mitten hand" syndactyly; the deficiency was not recognized before imaging. In this paper, we identify additional similarly affected literature cases, review existing classifications of split hand and syndactyly and attempt to classify these patients. This group presents a challenge for classification and genetic counseling. General classifications permit inclusion of patients with diverse phenotypes; however, details are overlooked. Osseous fusions and disorganization of osseous components complicate classification. Many of these patients had findings that overlapped different subtypes within existing classifications. This cohort highlights the importance of imaging patients with distal limb anomalies. An effective classification scheme should include relevant clinical and radiographic findings in order to assist clinicians following these patients.
Assuntos
Deformidades Congênitas do Pé/classificação , Deformidades Congênitas da Mão/classificação , Sindactilia/classificação , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/genética , Testes Genéticos , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/genética , Humanos , Lactente , Recém-Nascido , Masculino , Manitoba/epidemiologia , Fenótipo , Radiografia , Sindactilia/diagnóstico por imagem , Sindactilia/epidemiologia , Sindactilia/genéticaRESUMO
Background: Cleft hand is a rare and congenital deformity that affects hands and feet and can be associated with other malformations. The objective was to evaluate the epidemiological and clinical aspects of cleft hand patient in a case series. Methods: Baseline characteristics associated with this deformity, such as sociodemographic characteristics, affected upper limb side, family history, clinical manifestations, and the degree of deficiency according to Barsky, Manske and Halikis, and Valenti classifications, were analyzed in 38 patients treated in the Department of Orthopedic Surgery of the Irmandade da Santa Casa de Misericórdia de São Paulo, Brazil. Results: A predominance of typical hands as classified by Barsky, types II and IV by Manske and Halikis, and type IV by Valenti was found. A high frequency of typical cases (55.3%), as defined by Barsky, had a positive family history (P = .031) and were associated with other clinical manifestations (44.7%), when compared with atypical cleft hand patients (P < .001). Conclusion: In our study, there were more typical cleft hands than atypical, and they were more commonly associated with family history and other clinical manifestations.
Assuntos
Dedos/anormalidades , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas dos Membros/epidemiologia , Sindactilia/epidemiologia , Adulto , Brasil/epidemiologia , Feminino , Hospitais Públicos , Humanos , Masculino , Distribuição por SexoRESUMO
OBJECTIVES: The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudden death in an international cohort of Timothy Syndrome (TS) patients including those with novel TS-associated CACNA1C mutations. BACKGROUND: TS is an extremely rare genetic disorder of the L-type cardiac channel Cav1.2 encoded by CACNA1C. The syndrome is characterized by multisystem abnormalities consisting of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism, and neurological symptoms. METHODS: Patients diagnosed with TS between January 1, 1994, and April 1, 2016, from 12 international tertiary care pediatric centers were included in this retrospective study. Data were gathered via survey from the patients' electrophysiologists. RESULTS: Seventeen patients diagnosed with TS were identified. Length of follow-up was 4.9 years (range 3.0 to 19.0 years). Mean QTc was 640 ms (range 500 to 976 ms). All patients were treated with beta-blockers; 13 patients (76%) were also treated with an implantable defibrillator. Eleven patients experienced an episode of aborted cardiac arrest, 6 associated with general anesthesia and 2 with hypoglycemia. Four patients died suddenly due to ventricular fibrillation, 2 of whom had associated hypoglycemia. CONCLUSIONS: This study shows that mortality in TS patients is due to multifactorial mechanisms, which include ventricular arrhythmias, pulseless electrical activity, and hypoglycemia. A simple nomenclature for ongoing studies of TS and related syndromes is described. A worldwide prospective registry is needed for continued exploration of this syndrome.
Assuntos
Transtorno Autístico , Síndrome do QT Longo , Sindactilia , Adolescente , Adulto , Antiarrítmicos/uso terapêutico , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Transtorno Autístico/mortalidade , Transtorno Autístico/terapia , Criança , Pré-Escolar , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Eletrocardiografia , Feminino , Humanos , Hipoglicemia , Lactente , Recém-Nascido , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/epidemiologia , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Sindactilia/diagnóstico , Sindactilia/epidemiologia , Sindactilia/mortalidade , Sindactilia/terapia , Fibrilação Ventricular , Adulto JovemRESUMO
BACKGROUND: Syndactyly is one of the most common congenital differences of the upper extremity and offers an exceptional opportunity to evaluate value-based care in pediatric orthopedic surgery. We designed a study to characterize complications and cost associated to syndactyly surgery among US pediatric hospitals. METHODS: A total of 2047 patients were identified for syndactyly surgery at 38 pediatric hospitals from 2009 to 2012 using the Pediatric Health Information System (PHIS) database. We examined costs as well as complication rates across hospitals stratified by patient and hospital variables. RESULTS: The postoperative complication rate was 1.9% (95% confidence interval [CI]: 1.3%-2.5%). Postoperative infection rate was 1.6% and surgical complication rate was 0.3%. Median adjusted standardized cost was $4112.5 (interquartile range: $2979-$6049). Patients with more than 1 diagnosis had 19 times higher risk of complications and were associated with 13% more hospital cost than those with syndactyly as single diagnosis ( P < .001). Finally, there was a wide variation in cost across hospitals; 8 (21%) yielded confidence limits above the benchmarked value. CONCLUSIONS: In the United States, it is important to recognize variations in practice of syndactyly surgery in hopes of developing quality improvement strategies in pediatric orthopedic surgery.
Assuntos
Custos Hospitalares/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Sindactilia/economia , Sindactilia/cirurgia , Adolescente , Distribuição por Idade , Procedimentos Cirúrgicos Ambulatórios/economia , Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Criança , Pré-Escolar , Estudos de Coortes , Bases de Dados Factuais , Feminino , Hospitais Pediátricos , Humanos , Lactente , Recém-Nascido , Seguro Saúde/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Masculino , Medicaid/estatística & dados numéricos , Grupos Raciais/estatística & dados numéricos , Estudos Retrospectivos , Distribuição por Sexo , Sindactilia/epidemiologia , Estados Unidos/epidemiologiaRESUMO
The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form. In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.
Assuntos
Fissura Palatina/epidemiologia , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/epidemiologia , Dedos/anormalidades , Sindactilia/epidemiologia , Adulto , Humanos , Masculino , SíndromeRESUMO
BACKGROUND: Mutations in the CACNA1C-encoded L-type calcium channel have been associated with Timothy syndrome (TS) with severe QT prolongation, syndactyly, facial dysmorphisms, developmental delay, and sudden death. Recently, patients hosting CACNA1C mutations with only long QT syndrome (LQTS) have been described. We sought to identify novel variants in CACNA1C associated with either TS or LQTS, and to determine the impact of the mutation on channel function. METHODS/RESULTS: Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS. Illumina HiSeq 2000 whole exome sequencing on the genotype-negative LQTS proband revealed a novel variant, CACNA1C-L762F, that co-segregated within a multi-generational family. The missense mutation localized to the DII/DIII intracellular interlinker segment of the channel in a highly conserved region in close proximity to the 6th transmembrane segment of domain II (DIIS6). Whole cell patch clamp of heterologously expressed CACNA1C-L762F in TSA201 cells demonstrated slower inactivation tau and increased sustained and window current. Comprehensive review and topological mapping of all described CACNA1C mutations revealed TS-specific hotspots localizing to the cytoplasmic aspect of 6th transmembrane segment of respective domains. Probands hosting TS mutations were associated with elevated QTc, higher prevalence of 2:1 AV block, and a younger age at presentation compared to LQTS. CONCLUSIONS: The CACNA1C-L762F mutation is associated with development of LQTS through slower channel inactivation and increased sustained and window current. TS-associated mutations localize to specific areas of CACNA1C and are associated with a younger age at presentation, higher QTc, and 2:1 AV block than isolated LQTS-associated mutations.
Assuntos
Transtorno Autístico/genética , Canais de Cálcio Tipo L/genética , Síndrome do QT Longo/genética , Sindactilia/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Transtorno Autístico/fisiopatologia , Criança , Eletrocardiografia/métodos , Feminino , Humanos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/epidemiologia , Síndrome do QT Longo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Sindactilia/diagnóstico , Sindactilia/epidemiologia , Sindactilia/fisiopatologia , Texas/epidemiologiaRESUMO
The objective of the study was to investigate the human teratogenic potential of vaginal metronidazole+miconazole treatment during pregnancy, because these antimicrobial drugs separately did not indicate human teratogenic potential in our and other studies. The analysis of cases with 21 groups of congenital abnormalities and their all matched controls was carried out in the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996 including 38,151 pregnant women who had newborn infants without any congenital abnormalities (control group) and 22,843 pregnant women who had newborn infants or fetuses with congenital abnormalities. The prevalence of vaginal metronidazole+miconazole treatment during pregnancy was 2.5% (N=576) in the case group and 2.2% (N=846) in the control group [crude prevalence odds ratio (POR) with 95% confidence interval (CI): 1.2, 1.0-1.3]. The analysis of cases and their matched controls indicated an association between vaginal metronidazole+miconazole use and poly/syndactyly during the second through third months of gestation (adjusted POR 6.0, 95% CI 2.4-15.2). This finding may be connected with recall bias, although this bias was restricted by the evaluation of maternal drug use only during the critical period of poly/syndactyly and by evaluating only medically recorded metronidazole+miconazole treatment. The conclusion of the study is that this finding can be regarded as a signal for the possible association between vaginal treatment of metronidazole+miconazole during pregnancy and poly/syndactyly without any plausible biological hypothesis.
Assuntos
Antifúngicos/efeitos adversos , Antiprotozoários/efeitos adversos , Exposição Materna/efeitos adversos , Metronidazol/efeitos adversos , Miconazol/efeitos adversos , Polidactilia/induzido quimicamente , Sindactilia/induzido quimicamente , Administração Intravaginal , Adulto , Estudos de Casos e Controles , Quimioterapia Combinada , Feminino , Humanos , Hungria/epidemiologia , Recém-Nascido , Modelos Logísticos , Razão de Chances , Polidactilia/epidemiologia , Polidactilia/patologia , Gravidez , Sistema de Registros , Sindactilia/epidemiologia , Sindactilia/patologiaRESUMO
Syndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non-Latin-European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.