Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study.

BACKGROUND: Congenital Anomalies of the Upper Limb (CAUL) are a group of structural or functional abnormalities that develop during intrauterine life and can lead to limb dysfunction. OBJECTIVES: To analyze the prevalence of congenital anomalies of the upper limbs in Brazil and assess maternal and neonatal variables. DESIGN AND SETTING: A cross-sectional, descriptive study was conducted on congenital upper limb malformations among live births across Brazil. METHODS: The study spanned from 2010 to 2019. Data were sourced from the Department of Informatics of the Unified Health System (DATASUS) and the Live Birth Information System (SINASC) portal. Analyses focused on the information reported in field 41 of the Live Birth Declaration Form entered into the computerized system. RESULTS: The most common anomaly in Brazil was supernumerary fingers, classified as ICD-Q69.0, affecting 11,708 children, with a prevalence of 4.02 per 10,000 live births. Mothers aged over 40 years had a 36% higher prevalence of having children with CAUL than mothers under 40 years old (OR = 1.36; 95% CI 1.19-1.56). Newborns weighing ≥ 2,499 g were 2.64 times more likely to have CAUL compared to those weighing ≥ 2,500 g (OR = 2.64; 95% CI 2.55-2.73). CONCLUSION: There was an observed increase in the reporting of CAUL cases over the decade studied. This trend serves as an alert for health agencies, as understanding the prevalence of CAUL and its associated factors is crucial for preventive medicine.

Syndromic Involvement of Patients Presenting With Congenital Upper Limb Anomalies: An Analysis of 4,317 Cases.

PURPOSE: This study investigated the patterns of syndromic involvement for patients with congenital upper limb anomalies (CULAs). We hypothesize that patients with CULAs will present with predictable syndromic patterns. METHODS: This retrospective study queried the multicenter Congenital Upper Limb Differences (CoULD) Registry. Of the 4,317 patients enrolled, 578 (13%) reported one or more syndromes. Syndromes were confirmed to be recognized by the Online Mendelian Inheritance in Man. Demographics were reviewed and compared with the full CoULD registry group. Syndromes reported by five or more patients were examined to determine the type of CULA according to Oberg/Manske/Tonkin classifications. RESULTS: Of the 578 children with one or more reported syndromes, 517 had Online Mendelian Inheritance in Man recognized syndromes (cohort A), In cohort A, 58 syndromes were each represented by a single patient within the registry. Forty-eight syndromes in cohort A were reported by two or more patients, which accounted for 461 of the total patients with reported syndromes. However, VACTERL and Poland syndromes were the most commonly reported syndromes. Patients with CULAs and syndromes frequently exhibited bilateral involvement (61%), compared with the entire CoULD group (47%) and other orthopedic (50%) and medical conditions (61%) compared with the entire CoULD group (24% and 27%, respectively). Additionally, they exhibited a lower frequency of family history of a congenital orthopedic condition (21%) or a family member with the same CULA (9%) compared with the entire CoULD group (26% and 14%, respectively). CONCLUSIONS: Associated syndromes were recorded in 578 patients (13%) in the CoULD registry as follows: 58 syndromes represented by a single patient, 48 by 2 or more patients, and 23 syndromes by 5 or more patients. Rare syndromes that are only represented by a single patient are more likely to be unknown by a pediatric hand surgeon, and consultation with a geneticist is advised. TYPE OF STUDY/LEVEL OF EVIDENCE: Differential Diagnosis/Symptom Prevalence Study IV.

Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.

This study aimed to analyze the epidemiology of congenital upper limb anomalies (CULA) in Korea. We evaluated the incidence of each type of CULA, the presence of coexisting anomalies and the surgical treatment status in CULA patients. We conducted a retrospective cohort study of patients aged < 1 year between 2007 and 2016 who were registered with CULA in the Health Insurance Review and Assessment Service of Korea. In total, 10,704 patients had CULA, including 6,174 boys (57.7%) and 4,530 girls (42.3%). The mean annual incidence of CULA was 23.5 per 10,000 live births; it was significantly higher in boys than in girls (26.3 vs. 20.5, p < 0.001). Among the four categories of CULA-polydactyly, syndactyly, limb deficiency, and other anomalies-polydactyly was the most common. In total, 4,149 patients (38.8%) had other congenital anomalies and coexisting anomalies of the circulatory system (24.9%) were the most common. In total 4,776 patients (44.6%) underwent operative treatment for CULA within minimum three years of the diagnosis. The proportion of patients who underwent surgical treatment was significantly higher for polydactyly (73.4% vs. 16.8%, p < 0.001) and syndactyly (65.3% vs. 41.5%, p < 0.001), but it was significantly lower in limb deficiency (27.6% vs. 45.4%, p < 0.001) and other anomalies (10.0% vs. 69.8%, p < 0.001) than rest of CULA patients. Among the patients who had operations, 21.5% underwent multiple operations. The proportion of patients who underwent multiple operations was significantly higher in syndactyly (35.6% vs. 18.1%, p < 0.001), but it was significantly lower in polydactyly (4.0% vs. 95.5%, p < 0.001) and other anomalies (17.9% vs. 21.9%, p < 0.001) than rest of CULA patients. These results could provide a basis for estimating the national healthcare costs for CULA and the required number of CULA specialists.

Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.

BACKGROUND: The purpose of this study was to prospectively recruit patients treated with limb malformation and to explore the prevalence and the clinical and epidemiological features of Heart-Hand Syndrome (HHS) in China. METHODS: The consecutive patients treated for congenital upper limb malformation in Beijing Ji Shui Tan Hospital from October 1st, 2016 to October 1st, 2019 were prospectively recruited. We reviewed the patients' medical records and identified patients with abnormal electrocardiogram (ECG) and/or abnormal ultrasonic cardiogram as well as their basic demographic and clinical characteristics. RESULTS: A total 1653 (1053 male and 600 female) patients with congenital upper extremity malformations were prospectively recruited. Among them, 200 (12.1%) had abnormal ultrasonic cardiogram (181patients, 10.9%) and/or abnormal ECG (19 patients, 1.1%). The commonest type of abnormal heart structure was atrial septal defect (69/181 38.1%), and the commonest abnormal ECG was wave patterns (7/19, 36.8%). HHS patients had a higher comorbidity rate (11%) than non-HHS patients (6.9%). Patients with HHS were classified into four groups by the types of congenital upper extremity malformations, among which the most common group was thumb type (121/200, 60.5%). CONCLUSIONS: HHS occurred frequently among patients with congenital upper extremity malformation in China, particularly for those with multiple congenital malformations. The commonest type of hand malformations of HHS patients was thumb malformation.

Caracterización clínica y sociodemográfica de la población infantojuvenil entre 2 y 17 años con diagnóstico de deficiencia de extremidades superiores adquirida y/o congénita, en el Instituto Teletón Santiago / Clinical and sociodemographic characterization of the child and youth population between 2 and 17 years old with a diagnosis of acquired or congenital upper limbs deficiency at Instituto Teletón Santiago

INTRODUCCIÓN: Las deficiencias congénitas y adquiridas de extremidades superiores son una condición importante en la población pediátrica, existe poca información respecto de sus características clínicas, sociodemográficas y las asociadas al uso de prótesis. OBJETIVO: Describir las características clínicas y sociodemográficas de la población infantojuvenil entre 2 y 17 años con diagnóstico de deficiencia de extremidades superiores adquirida y/o congénita, pertenecientes al Instituto Teletón Santiago (IT-S). METODOLOGÍA: Estudio transversal, en población infantojuvenil entre 2 y 17 años, con diagnóstico de deficiencia de extremidades superiores, adquirida y congénita, que se atienden en el IT-S. Se realizó una revisión de fichas clínicas y encuesta para la obtención de datos de características sociodemográficas, clínicas y asociadas al uso de prótesis. RESULTADOS: Se incluyeron 215 pacientes, 93,9% de etiología congénita y 6,1% adquirida. El nivel de la deficiencia más frecuente fue parcial de mano con 51,6%, seguido del transradial con 33,1%. El 33% de los 215 pacientes estudiados tuvieron prescripción de prótesis. De los pacientes con prescripción de prótesis, 78,9% correspondía a mecánica y 18,3% a prótesis 3D. El 53,5% usaba su prótesis y el 46,4% no la usaba. Respecto a las prótesis 3D, el 84,6% no la usaban. En el nivel parcial de mano, el 83,3% no usaban su prótesis. CONCLUSIONES: Este estudio aporta datos de importancia clínica, destacando, una prescripción protésica de inicio temprano y asociada a las características clínicas de los pacientes. Así mismo, existe una alta tasa de no uso de las prótesis 3D, en el nivel parcial de mano.

INTRODUCTION: Congenital and acquired deficiencies of the upper extremities are an important condition in the pediatric population, however, there is almost no information regarding the clinical and sociodemographic characteristics and those associated with the use of prostheses. OBJECTIVE: Describe the clinical and sociodemographic characteristics of the child and adolescent population between 2 and 17 years old with a diagnosis of acquired and/or congenital upper limb deficiency, belonging to the Instituto Teletón Santiago (IT-S). METHODS: A cross-sectional study was conducted in child and adolescent population between 2 and 17 years old, with a diagnosis of acquired and/ or congenital upper limb deficiency treated in the IT-S. A review of clinical records and a survey were carried out to obtain data on sociodemographic and clinical characteristics and characteristics associated with the use of prostheses. RESULTS: 215 patients were included, 93.9% of congenital and 6.1% of acquired etiology. The most common level of deficiency was partial hand with 51.6%, followed by transradial with 33.1%. 33% of the 215 patients included had a prescription for a prosthesis. 78.9% of the patients with a prosthesis prescription had a mechanical prosthesis and 18.3% had a 3D prosthesis. 53.5% used their prosthesis and 46.4% did not use it. 84.6% of the patients with 3D prostheses did not use them and an 83.3% of the patients with a partial hand level deficiency did not use their prosthesis. CONCLUSION: This study provides data of clinical importance, highlighting an early-onset prosthetic prescription associated with the clinical characteristics of the patients. Likewise, there is a high rate of non-use of 3D prostheses at the partial hand level.

Upper extremity anomalies in children with femoral and fibular deficiency.

Defects occurring in the femoral-fibular-ulnar developmental field are believed to cause the cluster of anomalies seen with femoral, fibular and ulnar limb deficiencies. Upper limb function must be considered in the management of lower limb deficiencies. The purpose of this study is to determine the frequency and type of upper extremity anomalies found in children with femoral and/or fibular deficiency. A retrospective review of 327 consecutive patients with the diagnosis of femoral and/or fibular deficiency was performed using existing records and radiographs. Characteristics of those with and without upper extremity anomalies were compared. Upper extremity anomalies were identified in 56 patients. They were more common among those with bilateral, compared with unilateral, lower extremity deficiencies (P < 0.0001). Seventy-five upper limbs were involved with 50 ulnar deficiencies, nine congenital transhumeral deficiencies, four congenital shoulder disarticulations, seven cleft hands, two radial head dislocations and one each - radial deficiency, syndactyly and capitate-lunate coalition. Two patients with bilateral upper extremity anomalies had ulnar deficiency on one side and a transverse deficiency on the other. Upper extremity anomalies are found in 17% of children with femoral and/or fibular deficiency, especially with bilateral lower extremity involvement. Ulnar deficiency is the most common type but one-third had other anomalies. The frequent finding of congenital transverse upper extremity deficiencies suggests there may be common embryology.

Variations and morphometrics of palmaris longus in fetuses: a meta-analysis of cadaveric studies.

The palmaris longus muscle, and its tendon, is one of the most variable muscles in humans. Though it has been extensively researched in the adult population, its variations and development in the fetal period were rarely investigated. The aim of this meta-analysis is to conduct an evidence synthesis on PL variations and the prevalence of its agenesis during intrauterine development. Seven studies met the inclusion criteria comprising 497 fetuses and 1027 fetal limbs. The true and crude weighted prevalence rates were of 81.2% and 77%, respectively. The bilateral and unilateral prevalence estimates were of 62.2% and 15%, respectively. No significant differences were found for side-based and gender-based prevalence values. There were significant frequency differences between the studied populations (p < 0.0001).The Japanese population had the highest prevalence, the Turkish had the lowest and the European value was in between. Out of 494 studied muscles, 67 (13.5%) variations were noted. The weighted proportions of the commonest morphological variations were as follows: (a) bifid tendon in 10 (2%) cases, (b) inverted PL muscle in 9 (1.9%), muscle duplication in 6 (1.36%), and digastric muscle in 25 (5.1%). Prevalence values of the fetal PL were similar to those reported in adults; however, variations seem to be higher than in older populations. The true, crude, and ancestry-based prevalence presence rates of PL in fetuses were found to be similar to those of the adult population.

[CHARACTERISTICS AND TRENDS OF CONGENITAL AND ACQUIRED LOWER LIMB DEFICIENCY IN CHILDREN AND ADOLESCENTS AT THE SHEBA MEDICAL CENTER].

INTRODUCTION: Lower limb deficiency in childhood has an impact on acquisition of motor skills. Information regarding the characteristics of this population was examined in several countries but not in Israel. AIMS: To provide demographics, clinical and functional characteristics of children with lower limb deficiency in a pediatric rehabilitation department. METHODS: Children with lower limb deficiency participated in this study. The study variables included demographics, and clinical and functional characteristics. The statistical analysis included calculations of frequency, chi-squared tests and correlations. RESULTS: During the years 1998-2015 fifty-eight children with lower extremity deformity were treated/examined in the department (mean age: 6.46+4.70 years; girls, n=21; congenital deformity, n=23; acquired deformity, n=35). The most common congenital and acquired injury was unilateral leg deformity (31% and 35%, respectively). In congenital injury, multi-limb deformity (including an involvement in the upper limb) is more prevalent than bilateral lower limb deformity (p<0.01). In children with congenital deformity, longitudinal deformity is more prevalent than transverse deformity (p<0.03). Among children with acquired injury, in 40% the etiology was sickness-related and in the rest traumatic. Among the traumatic group, 57% of the injuries were terror-related. More than 50% percent of the children underwent a complex surgical procedure (34% and 22% among congenital and acquired injury, respectively). The ambulation level of the sample was lower than expected. CONCLUSIONS: Children who received treatment due to lower limb deformity presented high variability in their characteristics and low ambulation level. Consequently, it is important to create and manage a register for pediatric lower limb deformity.

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology.

BACKGROUND: Congenital limb deficiency is a rare and intractable disease, which impairs both function and appearance of the limbs. To establish adequate medical care, it is necessary to reveal the actual conditions and problems associated with this disease. However, there have been no extensive epidemiological surveys in Japan addressing this disease. This is the first nationwide epidemiological survey of congenital limb deficiency in this country. METHODS: With the cooperation of epidemiology experts, we performed a two-stage nationwide survey to estimate the number of patients with congenital limb deficiency and reveal basic patient features. We targeted orthopaedic surgery, paediatric, and plastic surgery departments. Hospitals were categorized according to the institution type and the number of hospital beds; hospitals were randomly selected from these categories. We selected 2283 departments from a total 7825 departments throughout Japan. In this study, we defined congenital limb deficiency as partial or total absence of the limbs, proximal to the proximal interphalangeal joint of the fingers/lesser toes or interphalangeal joint of the thumb/great toe. We distributed the first survey querying the number of initial patient visits from January 2014 to December 2015. Targets of the second survey were departments that reported one or more initial patient visits in the first survey. RESULTS: In the first survey, 1767 departments responded (response rate: 77.4%). Among them, 161 departments reported one or more initial patient visits. We conducted the second survey among these 161 departments, of which 96 departments responded (response rate: 59.6%). The estimated number of initial visits by patients with congenital limb deficiency was 417 (95% confidence interval: 339-495) per year in 2014 and 2015. The estimated prevalence of congenital limb deficiency in Japan was 4.15 (95% confidence interval: 3.37-4.93) per 10,000 live births. The sex ratio was 1.40. Upper limbs were more affected than lower limbs. CONCLUSIONS: We revealed the estimated number of initial patient visits per year and birth prevalence of congenital limb deficiency in Japan. Our results will contribute to establishing the disease concept and grades of severity of congenital limb deficiency.

Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.

Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and an upper limb malformation. This study revealed the clinical and epidemiological features of HHS in China. The study was based on patients with congenital upper limb malformation treated in Beijing Ji Shui Tan hospital from October 1st, 2013 to October 1st, 2016. We reviewed the patients' medical records and identified patients with abnormal ultrasonic cardiogram and/or electrocardiogram (ECG). A total of 1462 patients (910 male and 552 female) were identified to be treated for congenital upper limb malformation. Among them, 172 (11.8%) had abnormal ultrasonic cardiogram and/or ECG. Abnormal heart structure were discovered in 121 patients and 51 patients had abnormal ECG. The most common type of abnormal heart structure was tricuspid regurgitation (53/121, 43.8%), while the most common abnormal ECG was wave patterns (22/51, 43.1%). This hospital-based study suggests that the rate of congenital heart disease is high in patients treated for congenital upper extremity malformation in China. Surgeons and anesthetists should be aware of the comorbidity and preoperational examination of congenital heart diseases is highly needed to avoid complications during operation.

The Prevalence of Congenital Hand and Upper Extremity Anomalies Based Upon the New York Congenital Malformations Registry.

BACKGROUND: There have been few publications regarding the prevalence of congenital upper extremity anomalies and no recent reports from the United States. The purpose of this investigation was to examine the prevalence of congenital upper extremity anomalies in the total birth population of New York State over a 19-year period utilizing the New York Congenital Malformations Registry (NYCMR) database. METHODS: The NYCMR includes children with at least 1 birth anomaly diagnosed by 2 years of age and listed by diagnosis code. We scrutinized these codes for specific upper extremity anomalies, including polydactyly, syndactyly, reduction defects, clubhand malformations, and syndromes with upper limb anomalies. We included children born between 1992 and 2010. RESULTS: There were a total of 4,883,072 live births in New York State during the study period. The overall prevalence of congenital upper extremity anomalies was 27.2 cases per 10,000 live births. Polydactyly was most common with 12,418 cases and a prevalence rate of 23.4 per 10,000 live births. The next most common anomalies included syndactyly with 627 cases affecting the hands (1498 total) and reduction defects (1111 cases). Specific syndromes were quite rare and were noted in a total of 215 live births. The prevalence of anomalies was higher in New York City compared with New York State populations at 33.0 and 21.9 per 10,000 live births, respectively. CONCLUSIONS: The NYCMR data demonstrate that congenital upper extremity anomalies are more common than previously reported. This is in large part due to the high prevalence of polydactyly. Although registries are imperfect, such data are helpful in monitoring prevalence rates over time, identifying potential causes or associations, and guiding health care planning and future research. LEVEL OF EVIDENCE: Level I-diagnostic.

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

UNLABELLED: The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n = 12) and hypoplastic thumb (n = 11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder-nine also met the VACTERL criteria-vs. 9 % of ARM patients with other anomalies (p = 0.004, chi-squared test). CONCLUSION: Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies. As they also frequently meet the VACTERL criteria, it is important to consider VACTERL as a diagnosis per exclusionem. Genetic counseling is certainly warranted in these patients. WHAT IS KNOWN: • Anorectal malformations (ARMs) often co-occur with other congenital anomalies, including upper limb anomalies, mainly of pre-axial origin. • Co-occurrence of ARMs and upper limb anomalies is seen in disorders such as Townes-Brocks syndrome, Fanconi anemia, and VACTERL association. What is New: • ARM patients with a major upper limb anomaly-with or without other congenital anomalies-have a twofold greater chance of a genetic disorder than have non-isolated ARM patients without upper limb anomalies. • Not all upper limb anomalies in ARM patients are part of the VACTERL association; a workup for genetic evaluation is proposed.

Epidemiology of congenital upper limb anomalies in a midwest United States population: an assessment using the Oberg, Manske, and Tonkin classification.

PURPOSE: To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system. METHODS: 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. We applied the OMT classification that categorizes anomalies using a dysmorphology outline as malformations, dysplasias, deformations, and syndromes, and assessed its utility and ease of use. RESULTS: There were 480 extremities (74%) with a limb malformation including 184 involving the entire limb. Arthrogryposis was the most common of these (53 extremities). Anomalies affecting only the hand plate accounted for 62% (296) of the malformations. Of these, radial polydactyly (15%) was the most common specific anomaly, followed by symbrachydactyly (13%) and cleft hand (11%). Dysplasias were noted in 86 extremities; 55 of these were multiple hereditary exostoses. There were 87 extremities with deformations and 58 of these were trigger digits. A total of 109 children had a syndrome or association. Constriction ring sequence was most common. The OMT was straightforward to use and most anomalies could be easily assigned. There were a few conditions, such as Madelung deformity and symbrachydactyly, that would benefit from clarification on how to best classify them. CONCLUSIONS: Malformations were the most common congenital anomalies in the 653 upper extremities evaluated over a 1-year period at 3 institutions. We were able to classify all individuals using the OMT classification system.

Holt Oram syndrome: a registry-based study in Europe.

BACKGROUND: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. METHODS: The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. RESULTS: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. CONCLUSIONS: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.

Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification.

PURPOSE: To investigate the epidemiology of congenital upper limb anomalies (CULA) based on the newly proposed Oberg, Manske, and Tonkin (OMT) classification, to compare this classification with the International Federation of Societies for Surgery of the Hand (IFSSH) classification, and to provide incidence rates of the different CULA. METHODS: In this study, the same 562 individuals with a CULA who were analyzed in a previous epidemiologic study based on the IFSSH classification were reclassified according to the OMT classification. All children identified with CULA and born in Stockholm County between January 1, 1997 and December 31, 2007 were included in the study. During the period there were 261,914 live births in Stockholm County, and the population of Stockholm County was 1,949,516 inhabitants at the end of the period. From medical records and available radiographs, all cases were analyzed regarding type of CULA, sex, affected side, associated nonhand anomalies, and occurrence among relatives. Individuals with right and left side anomalies belonging to different OMT subgroups were counted as 2 anomalies; thus, the material consisted of 577 CULA in 562 children. RESULTS: It was possible to organize all CULA into the OMT classification. The largest main category was malformations (429 cases), followed by deformations (124 cases), dysplasias (10 cases), and syndromes (14 cases). We present the relation between the IFSSH and OMT classifications, elucidate difficulties within the OMT classification, and propose additions to the classification. CONCLUSIONS: This study confirms that the OMT classification is useful and accurate, but also points out difficulties. With further refinements, we regard the OMT classification as a needed and appropriate replacement for the IFSSH classification. TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic III.

The prevalence of Os acromiale: a systematic review and meta-analysis.

Os acromiale (OA) results from a failure of consolidation between the ossification centers of the acromial epiphysis. Its prevalence and its interactions with ancestry, gender, laterality, and side have been variously reported in the literature. The aims of this review are to provide an accurate estimate of OA prevalence and to investigate its association with other variables in an attempt to comprehend its etiology. Twenty-three studies met the inclusion criteria. The results of meta-analyses of large-sample studies revealed: (a) a crude overall prevalence of 7.0%, (b) a crude cadaveric prevalence of 7.6%, (c) a crude archeological (skeletal) prevalence of 5.6%, (d) a crude radiological prevalence of 4.2%, (e) a true anatomical prevalence of 9.6%, (f) a significantly higher frequency in persons of black ancestry than in persons of white, Native American and Middle Eastern ancestries (OR ≈ 3), (g) significantly higher unilateral and bilateral frequencies in black ancestry (OR of 2 and 4, respectively), (h) nonsignificant interactions of OA frequency with gender and side. The commonest type of OA was the meso-acromion type (76.6%). Degenerative changes were present in 66.6% of OAs. The results of this evidence-based anatomical review support a genetic basis for OA rather than the mechanical trauma-induction hypothesis.

Associated malformations among infants with radial ray deficiency.

Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted.

A review of supernumerary and absent limbs and digits of the upper limb.

For years people have been enamored by anomalies of the human limbs, particularly supernumerary and absent limbs and digits. Historically, there are a number of examples of such anomalies, including royal families of ancient Chaldea, tribes from Arabia, and examples from across nineteenth century Europe. The development of the upper limbs in a growing embryo is still being elucidated with the recent advent of homeobox genes, but researchers agree that upper limbs develop between stages 12-23 through a complex embryological process. Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abnormality. Supernumerary and absent limbs and digits are not unique to humans, and a number of animal cases have also been reported. This review of the literature illustrates the historical, anatomical, and clinical aspects of supernumerary and absent limbs and digits for the upper limb.

Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from stockholm, sweden.

PURPOSE: There are few true epidemiological studies of congenital anomalies of the upper limb (CULA) on total populations in the literature, and most incidence studies are hospital based. The purposes of this study were to describe the epidemiology and classify all CULA in a region of Sweden during an 11-year period. METHODS: Between 1997 and 2007, there were 261,914 live births in the Stockholm region. A total of 562 children born during this period were found to have CULA. From medical records and available radiographs, all cases were analyzed regarding the type of congenital anomaly, gender, laterality, occurrence among relatives, associated non-hand anomalies, and syndromes. All 585 main anomalies were classified according to the International Federation of Societies for Surgery of the Hand classification. Individuals with right- and left-side main anomalies belonging to different categories were counted as having 2 anomalies. RESULTS: The recorded incidence of CULA was 21.5 per 10,000 live births. Of the 562 children, 304 were boys. The anomalies affected the right side only in 169 children, the left side only in 186, and both sides in 207. Non-hand anomalies were recorded in 129 children, most commonly in the lower limbs. In 99 children, there was a known occurrence among relatives. Failure of differentiation was the most common category (276 of 585) followed by duplication (155 of 585), failure of formation (103 of 585), undergrowth (18 of 585), generalized abnormalities and syndromes (14 of 585), overgrowth (10 of 585), and constriction ring syndrome (9 of 585). CONCLUSIONS: The incidence of CULA in our region was similar to the only previously comparable total population study from Western Australia. The minor differences in incidences between the categories according to the International Federation of Surgical Societies of the Hand may be due to variations in classification strategy. The results of the present study can be used as a reference of CULA in a total population.

Anormalidades del sistema nervioso central y alteraciones de los miembros superiores en pacientes con mielomeningocele / Abnormalities in the central nervous and alterations in the upper limbs in patients with myelomeningocele

El mielomeningocele es un defecto del cierre del tubo neural cuyo cuadro clínico incluye déficit defuerza muscular y sensibilidad por debajo del nivel de la lesión, vejiga e intestino neurogénicos, disfunción sexual, déficit cognitivo, retraso en el desarrollo neuropsicomotor y lentitud en la realización de actos motores. En las últimas décadas se ha documentadoel perjuicio de la función manual, que puede deberse principalmente a anormalidades asociadas al sistema nervioso central. Objetivo. Describir las alteraciones de los miembros superiores y anormalidades del sistema nervioso central en pacientes con mielomeningocele. Sujetos y métodos. Estudio transversal donde participaron 33 pacientes con mielomeningocele,de edad superior a 6 años, en seguimiento en el Centro de Rehabilitación Sarah Fortaleza, Brasil, junto con 33 sujetos control. Todos los pacientes se sometieron a resonancia magnética de encéfalo y médula. Resultados. Hidrocefalia, malformación de Chiari tipo II con o sin kinking cervicomedular, hidrosiringomielia y atrofia medular y cerebral fueron las anormalidadesmás encontradas. Se halló dismetría, evaluada a través del test índice-índice, en el 87,9% de los pacientes, y disdiadococinesia en el 21,2%. La media de la fuerza de prensión de los pacientes con mielomeningocele fue significativamente inferior a la del grupo de control (p < 0,001). Conclusiones. Se detectó una alta ocurrencia de anormalidades del sistema nerviosocentral y alteraciones de los miembros superiores en los pacientes con mielomeningocele, corroborando estudios previos. Se precisan investigaciones futuras para evaluar el impacto de las alteraciones de los miembros superiores en las actividades de la vida diaria

Myelomeningocele is a neural tube defect resulting in motor and sensory deficit below the level of thelesion, bowel and neurogenic bladder, sexual dysfunction, cognitive dysfunction, neurodevelopment delay and motor skills disability. During the past decades, hand function impairment has been described in myelomeningocele patients, probably dueto central nervous system abnormalities. Aim. To determine the occurrence of upper limb impairment and additional central nervous system abnormalities in patients with myelomeningocele. Subjects and methods. A transversal study including 33 patients with myelomeningocele, 6 years and older, referred to pediatric rehabilitation program at Sarah Network ofRehabilitation Hospital (Fortaleza, Brazil), and 33 control subjects. All patients underwent brain and spinal cord magnetic resonance imaging. Results. Hydrocephalus, Chiari type II malformation with or without kinking of the medullocervical junction,hydrosyringomyelia, spinal cord and brain atrophy were the most common central nervous system abnormalities. Dysmetria, evaluated by the Index-Index Test, was exhibited by 87.9% of the patients and 21.2% of them exhibited dysdiadochokinesia. The mean hand grip strength of the myelomeningocele group was significantly lower compared with the control group (p < 0,001).Conclusions. High occurrence of upper limb dysfunction and additional central nervous system abnormalities was detected in patients with myelomeningocele, supporting previous studies. Further investigation is still necessary to elucidate the upper limb impairment impact on the daily live activities of the patient with myelomeningocele