Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.

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.

A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020.

BACKGROUND: Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. METHODS: A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval. RESULTS: Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives. CONCLUSION: These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.

Paternal age and risk for selected birth defects in a large South American sample.

BACKGROUND: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. OBJECTIVES: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. METHODS: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. RESULTS: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. CONCLUSIONS: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.

Epidemiological statistics of congenital thumb duplication in the Chinese population.

BACKGROUND: Thumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. However, previous studies had a limited sample size. Therefore, this study used a large sample. METHODS: A total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China). RESULTS: In group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively. CONCLUSIONS: There were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different.

Polydactyly of the Foot: A Review.

Pediatric foot polydactyly presents in a wide variety of deformities from single extra digits attached only by a narrow soft-tissue connection to complex central foot duplications with tarsal bone duplication. The goal of surgical reconstruction is a stable, mobile, pain-free foot with five cosmetically appealing toes that allows for normal footwear and painless ambulation. This review covers the incidence, genetics and embryology, classification, presentation and natural history, physical examination, radiographic assessment, and surgical intervention for all types of foot polydactyly.

A Comparative Analysis of 150 Thumb Polydactyly Cases from the CoULD Registry Using the Wassel-Flatt, Rotterdam, and Chung Classifications.

PURPOSE: Three commonly used classifications for thumb polydactyly are the Wassel-Flatt, Rotterdam, and Chung. The ideal classification system would have high validity and reliability and be descriptive of the thumb anomaly. The purposes of this investigation were to (1) compare the inter- and intrarater reliability of these 3 classifications when applied to a large sample of patients enrolled in the Congenital Upper Limb Differences (CoULD) Registry and (2) determine the prevalence of radial polydactyly types when using the various classifications in a North American population. METHODS: Inter- and intrarater reliability were determined using 150 cases of radial polydactyly presented in a Web-based format to 7 raters in 3 rounds, a preliminary training round and 2 observation rounds. Raters classified each case according to the Wassel-Flatt, Rotterdam, and Chung classifications. Inter- and intrarater reliability were evaluated with the intraclass correlation coefficient (ICC) calculated using 2-way random measures with perfect agreement. RESULTS: For Wassel-Flatt, both the interrater (ICC, 0.93) and the intrarater reliability (ICC, 0.91) were excellent. The Rotterdam classification had excellent reliability for both interrater reliability (ICC, 0.98) and intrarater reliability (ICC, 0.94), when considering type alone. Interrater analysis of the additional subtypes demonstrated a wide range of reliabilities. The Chung classification had good interrater (ICC, 0.88) and intrarater reliability (ICC, 0.77). Within the Wassel-Flatt classification, the most frequent unclassifiable thumb was a type IV hypoplastic thumb as classified by the Rotterdam classification. CONCLUSIONS: The Wassel-Flatt and Rotterdam classifications for radial polydactyly have excellent inter- and intrarater reliability. Despite its simplicity, the Chung classification was less reliable in comparison. The Chung and Rotterdam classification systems capture the hypoplastic subtypes that are unclassifiable in the Wassel-Flatt system. Addition of the hypoplastic subtype to the Wassel-Flatt classification (eg, Wassel-Flatt type IVh) would maintain the highest reliability and classify over 90% of thumbs deemed unclassifiable in the Wassel-Flatt system. CLINICAL RELEVANCE: The Wassel-Flatt and Rotterdam classifications have excellent inter-and intrarater reliability for the hand surgeon treating thumb polydactyly. Addition of a hypoplastic subtype to the Wassel-Flatt (Type 4h) allows classification of most previously unclassifiable thumbs.

Maternal exposure to ambient SO2 and risk of polydactyly and syndactyly: a population-based case-control study in Liaoning Province, China.

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.

Pattern of congenital hand anomalies at a tertiary plastic surgery service in South-Western Nigeria: A 10-year, cross-sectional retrospective review.

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.

Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands.

PURPOSE: This study was intended to characterize the epidemiological features of thumb polydactyly (TP) in South China. METHODS: Clinical records were retrieved from 1 central hospital in South China to identify the patients with a definite diagnosis of TP from January 2004 to January 2017. The cases were classified by their x-ray appearance. The data collected included sex, age at first operation, reoperation, family history, unilateral/bilateral polydactyly, right/left hand involvement in unilateral cases, classification of polydactyly, and the presence of associated congenital anomalies. RESULTS: A total of 428 patients with a definite diagnosis of TP were identified (278 males and 150 females) involving 483 cases, 373 unilateral and 55 bilateral. A syndrome or associated congenital anomaly was found in 26 (18 unilateral and 8 bilateral cases). A dominant thumb, larger and more developed, was observed in 448 hands (93%), and was the ulnar thumb in 433. Owing to postoperative complications, 31 thumbs (6.4%) underwent reoperation. The average interval from initial surgery to reoperation was 4.8 years. CONCLUSIONS: Thumb polydactyly had a male predominance in this Chinese cohort, mostly occurring on the right hand with an ulnar dominant thumb. Bilateral cases had a higher incidence of associated anomaly and positive family history than unilateral cases. The need for additional surgery for TP might occur as late as 4.8 years after primary surgery. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Association between maternal exposure to PM10 and polydactyly and syndactyly: A population-based case-control study in Liaoning province, China.

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.

Polydactyly a review and update of a common congenital hand difference.

PURPOSE OF REVIEW: The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar (small finger) or radial (thumb). Polydactyly can be sporadic, genetic, and/or associated with syndromic conditions. RECENT FINDINGS: Both ulnar and radial polydactyly can be surgically treated to optimize hand aesthetics and function. Timing of surgery is based on multiple factors, most notably including safety of anesthesia and socialization of the affected child. The pediatrician should be aware of potential associated conditions, such as chondroectodermal dysplasia or Ellis-van Creveld syndrome for ulnar polydactyly. SUMMARY: Polydactyly is a common congenital hand difference and can be broadly be classified by radial or ulnar involvement. Polydactyly warrants hand surgical referral, as surgical treatment is often indicated. Pediatricians should be aware of treatment options, as well as of commonly associated anomalies and syndromes.

Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

Isolated postaxial polydactyly (I-PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as 6.08/10,000 in Argentinians. Genetic-ethnic background significantly affects worldwide prevalence and type of I-PAP. Herein we describe the epidemiological characteristics of I-PAP in 697 newborns, 383 males and 314 females identified in 1,178,993 examined live births from a multicenter case-control hospital-based population study, the Mexican program of Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE). The main characteristics analyzed included total I-PAP, stratified in Types A and B, defined as complete or incomplete extra-digit formation, respectively, sex prevalence, affected limb, laterality, parity, prematurity, delivery-type, twinning, consanguinity, and parental age. Males (6.35/10,000) are significantly more frequently affected than females (5.45/10,000), hands more than feet, left more than right limbs, and Type B (74.50%) more than A (25.50%). Prematurity and forceps use were significantly more frequent in cases than controls. An evident decreasing time-trend prevalence was present. Similar findings with other studies were males, upper and left limbs more frequently affected. Findings that were not previously reported include prematurity, forceps use, a significant decreasing time trend and an inverse ethnic prevalence for Types A (75%) and B (25%) in the Mayan population in contrast to other worldwide ethnic groups.

[Active and passive maternal smoking during pregnancy and risk of having a child with polydactyly: a case-control study].

Objective: The number of children with polydactyly is increasing. In addition to genetic factors, an influence of maternal behavior or environmental effects during pregnancy is becoming increasingly apparent. However, epidemiological data on these effects are lacking. Methods: This hospital-based, case-control study enrolled 143 infants with polydactyly and 286 controls without genetic diseases to evaluate the association between active and passive maternal smoking during pregnancy and the likelihood of giving birth to a child with polydactyly. Results: Active and passive maternal smoking during pregnancy was associated with an increased risk of giving birth to a child with polydactyly (active smoking: OR=4.74, 95%CI: 1.43-15.65, P=0.011; passive smoking: OR=2.42, 95%CI: 1.32-4.44, P=0.004). After adjusting for confounders, smoking during pregnancy remained significant influence on polydactyly (active smoking: aOR=7.27, 95%CI: 1.72-30.72, P=0.007; passive smoking: aOR=2.41, 95%CI: 1.11-5.23, P=0.026). Conclusion: Active and passive maternal smoking during pregnancy appears to be a risk factor for polydactyly in newborns.

Polydactyly, postaxial, type B.

BACKGROUND: Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of the hand or foot at the level of the metacarpal-phalangeal joint or the metatarsal-phalangeal joint. The occurrence of this type of polydactyly varies among racial groups, by sex and sidedness. Postaxial polydactyly, type A is a fully developed extra digit on the lateral aspect of the hand or foot with a bifid fifth or sixth metacarpal/metatarsal and is much less common. METHODS: In a malformations surveillance program, the frequency in racial groups, sex ratio and the frequency of other anomalies can be established. RESULTS: Five hundred forty-five affected infants were identified from 1972 to 2012 in the surveillance of 289,365 liveborn and stillborn infants and elective terminations because of fetal anomalies detected prenatally. Postaxial polydactyly, type B was an isolated anomaly in 95% of the affected newborns. There were more affected males than females. Black infants were affected more often than White infants: 0.91/100 vs. 0.035/100 infants. The dangling extra digit was much more common in the hands than in the feet. CONCLUSIONS: Postaxial polydactyly, type B is almost always an isolated, mild malformation with no medical significance. Postaxial polydactyly, types B and A occurred in several infants, suggesting that either the underlying mutation(s) can cause both types of postaxial polydactyly or that some affected infants have more than one mutation. Autosomal dominant inheritance with variable expressivity is postulated.

Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.

BACKGROUND: Polydactyly is a group of congenital limb malformations that show high degree of phenotypic variability and genetic heterogeneity. RESULTS: In the present study, four genomic regions (exons of GLI3, SHH, and noncoding sequences of preZRS and ZRS) involved in hedgehog (Hh) signaling pathway were sequenced for 102 unrelated Chinese children with nonsyndromic polydactyly. Two GLI3 variants (c.2844 G > G/A; c.1486C > C/T) and four preZRS variants (chr7:156585336 A>G; chr7:156585421 C>A; chr7: 156585247 G>C; chr7:156585420 A > C) were observed in 2(2.0%) and 6(5.9%) patients, respectively. These variants are not over-represented in the Chinese healthy population. All the 8 cases showed preaxial polydactyly in hands. Additionally, no specific patterns of malformation predicted mutations in other candidate genes or sequences. CONCLUSIONS: This is the first report of the assessment of the frequency of GLI3/SHH/preZRS/ZRS in Chinese patients to show any higher possibility of mutations or variants for the 4 genes or sequences in China. Developmental Dynamics 246:392-402, 2017. © 2017 Wiley Periodicals, Inc.

Clinical study of 459 polydactyly cases in China, 2010 to 2014.

Polydactyly is one of the most common hereditary limb malformations, involving additional digits on the hands and/or feet, which is a very attractive model to appreciate clinical and genetic heterogeneity. A high level of heterogeneity in polydactyly has been identified in different regions. However, such data of the medical literatures for Asian populations are relatively limited. This study was intended to shed light on the phenotypic manifestations of polydactyly in the recruited Chinese population and to characterize the medical literature on this condition. A total of 459 well-characterized polydactyly cases from Shanghai Children's Medical Center were recruited. Their phenotypes, inheritance patterns, and clinical heterogeneity were obtained from clinical medical records. It was found that 4.8% of cases were familial and 95.2% were sporadic. The proportions of preaxial and postaxial polydactyly types were 74.7% and 25.3%, respectively. In preaxial polydactyly, type I formed the overwhelming majority (95.9%). Among the postaxial polydactyly cases, type A was most prevalent at 69.8% and type B was witnessed in 30.2% of cases. Familial and sporadic polydactyly patients mainly had unilateral presentations. A total of 583 limbs with additional digits were recorded in the 459 subjects. Upper limb involvement was more common than lower, and right hand involvement was more common than left for preaxial polydactyly, and lower limb involvement was more common than upper in postaxial polydactyly. This cohort added useful clinical/epidemiological information to the polydactyly literature in the Chinese population and highlighted its marked clinical heterogeneity.

The Dynamics of the Frequency of Polydactyly, Reduction Defects of Limbs and Multiple Congenital Malformations in Newborns of Radioactively Contaminated Areas of the Bryansk Region (1999-2014).

On the basis of official statistical data for 1999-2014 the authors assessed the frequency of polydactyly, reduction defects of limbs and multiple congenital malformations in newborns of the Bryansk region living in the areas with different densities of radioactive contamination by long-lived radionuclides cesium-137.(3.0 to 2523.4 kBq/m(2)) and strontium-90 (from 0.02 to 42.5 kBq/M(2)). The findings did not reveal statistically significant differences in the frequency of polydactyly, reduction defects of limbs and multiple congenital malformations in newborns in the South-Western Territories compared with medium-regional values, although the maximum value of the sum of congenital. developmental anomalies (polydactyly, reduction limb defects and multiple congenital malformations) are detected in the above-mentioned most contaminated areas.

Defectos congénitos en un hospital de tercer nivel en Cali, Colombia / Congenital defects in a tertiary level hospital in Cali, Colombia

OBJETIVO: Determinar la prevalencia global e individual de los defectos congénitos diagnosticados al nacimiento en un hospital de referencia de la ciudad de Cali, Colombia, periodo 2011-2012 y comparar los resultados con lo reportado previamente para la misma institución. MÉTODOS: Se realizó vigilancia epidemiológica de defectos congénitos en el Hospital Universitario del Valle entre julio 2011 y junio 2012, siguiendo la metodología ECLAMC. Se realizaron tablas para ilustrar la distribución de la frecuencia de los defectos congénitos. RESULTADOS: Durante los 12 meses de estudio, se atendieron 5.669 nacimientos, de los cuales 109 presentaron al menos un defecto congénito, para una prevalencia de 1,92%. Para defectos congénitos específicos se registraron las prevalencias más altas para: polidactilia (24,69 x 10.000), apéndice preauricular (15,87 x 10.000), hidrocefalia (15,87 x 10.000), hidronefrosis (15,87 x 10.000). Al agruparlos, las prevalencias más altas fueron para los siguientes grupos: defectos de las extremidades (79,37 x 10.000), defectos del sistema nervioso central (49,39 x 10.000), defectos por disrupción vascular (40,57 x 10.000). CONCLUSIONES: En el periodo de vigilancia en la institución se encontró una prevalencia de defectos congénitos similar a la reportada previamente en la misma. Al agruparlos, las prevalencias más altas fueron para los defectos de las extremidades, defectos del sistema nervioso central y defectos por disrupción vascular. Los defectos congénitos relacionados con factores ambientales, principalmente defectos del tubo neural y defectos por disrupción vascular presentaron prevalencias más altas en comparación con lo reportado previamente.

AIMS: To determine the overall and individual prevalence of birth defects diagnosed at birth in a referral hospital in Cali, Colombia, in the period 2011-2012 and compare the results with previously reported for the same institution. METHODS: Epidemiological surveillance of birth defects was performed at the Hospital Universitario del Valle between July 2011 and June 2012, following ECLAMC methodology. Tables were performed to illustrate the frequency distribution of birth defects. RESULTS: During the 12 months of study there were 5,669 births, of which 109 had at least one birth defect, for a prevalence of 1.92%. For specific birth defects, the highest prevalence were recorded for polydactyly (24.69 x 10,000), auricular appendage (15.87 x 10,000), hydrocephalus (15.87 x 10,000), hydronephrosis (15.87 x 10,000). By grouping, the highest prevalence was for the following groups: limb defects (79.37 x 10,000), central nervous system defects (49.39 x 10,000), vascular disruption defects (40.57 x 10,000). CONCLUSIONS: In the surveillance period in the institution it was found a prevalence of birth defects similar to that previously reported in the same institution. By grouping, the highest prevalence were for limb defects, defects of the central nervous system and vascular disruption defects. Birth defects associated with environmental factors, principally neural tube defects and defects by vascular disruption had higher prevalence compared with those reported previously.

Common Pediatric Congenital Conditions of the Hand.

LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Accurately diagnose congenital differences that affect the hand. 2. Develop a surgical plan for syndactyly with regard to timing of intervention to prevent progressive deformity and principles to restore the commissure. 3. List the potential complications following polydactyly reconstruction. 4. State the indications for pollicization for thumb hypoplasia. SUMMARY: Congenital conditions of the hand are commonly encountered in a pediatric hand surgery practice. The physician must be comfortable and have a sound understanding of the diagnosis and treatment algorithm. Certain diagnoses are inheritable and require genetic testing and/or genetic counseling. Appropriate referral is necessary to facilitate education about the congenital difference and its effect on subsequent generations. Syndactyly, polydactyly, thumb hypoplasia, and cleft hand are particularly commonplace and are discussed in this article. The treatment principles and surgical techniques are emphasized to maximize hand function and aesthetic outcome.

Congenital anomalies in offspring of subfertile couples: a registry-based study in the northern Netherlands.

OBJECTIVE: To study whether specific congenital anomalies occur more often with a history of subfertility and/or the use of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI). DESIGN: Case-only analyses. SETTING: Not applicable. PATIENT(S): We included live births, stillbirths, and terminated pregnancies with congenital anomalies without a known cause that had a birth year between 1997 and 2010 (n = 4,525). A total of 4,185 malformed cases were born to fertile couples and 340 to subfertile couples, of whom 139 had conceived after IVF/ICSI and 201 had conceived naturally after >12 months. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The contribution, expressed in odds ratios (ORs), of a history of subfertility and IVF/ICSI to each specific type of congenital anomaly, imprinting disorder, and syndromal disorder. RESULT(S): We found subfertility to be associated with an increase in abdominal wall defects (adjusted OR [aOR] 2.43, 95% CI 1.05-5.62), penoscrotal hypospadia (aOR 9.83, 95% CI 3.58-27.04), right ventricular outflow tract obstruction (aOR 1.77, 95% CI 1.06-2.97), and methylation defects causing imprinting disorders (aOR 13.49, 95% CI 2.93-62.06). In vitro fertilization/ICSI was associated with an increased risk of polydactyly (OR 4.83, 95% CI 1.39-16.77) and more specifically polydactyly of the hands (OR 5.02, 95% CI 1.43-17.65). CONCLUSION(S): In our registry-based study, parental subfertility was associated with an increase in abdominal wall defects, penoscrotal hypospadia, right ventricular outflow tract obstruction, and methylation defects causing imprinting disorders. In vitro fertilization/ICSI was associated with an increase in polydactyly, mainly of the hands.