Anomalies Of Musculoskeletal System Research Articles

Risk Factors and Profile of Congenital Anomalies Abnormalities in Central Morocco

Background: In Morocco, there is no official data on the prevalence of congenital anomalies (CAs). Available data are mostly derived from hospital-based retrospective epidemiological analyses. Objectives: This study aims to describe the prevalence, distribution, and risk factors of CAs in the Beni Mellal-Khenifra region of central Morocco. Methods: Epidemiological data were obtained from delivery files of 163,842 births recorded by local medical services from January 2017 to December 2021. Additionally, a case-control study was conducted to analyze the risk factors. Results: The prevalence of CAs in this study area was 6.18 per thousand births. Musculoskeletal system anomalies were the most common (32.88%), followed by nervous system anomalies (22.20%). Genital organ abnormalities represented 7.37%, and cleft lip and palate accounted for 7.03%. Analysis by type of CA revealed that clubfeet were the most commonly reported anomalies in the study area, with a prevalence of 18%, followed by spina bifida (9%), anencephaly (7%), and cleft lips and palate (7.9%). The sex ratio (males/females) for all CAs was 1.24. Risk factors identified in this study included rural residency, maternal age over 35 years, parity, consanguinity, family history of CA, medication use before and during pregnancy, and infection episodes during pregnancy. Conclusions: The relatively high prevalence of congenital abnormalities in the Beni Mellal-Khenifra region highlights the need for prevention strategies through preconception care counseling and pregnancy monitoring, especially in rural areas. It is urgent to establish a teratovigilance registry in Morocco.

Retrospective Review of Congenital Anomaly Cases in Ruminants

This study was designed to provide data on the incidence rates of congenital anomalies and their distribution by organs and systems in calves, lambs and kids brought to Van Yuzuncu Yil University, Surgery Clinic between 2017-2023. The animal material of the study consisted of 1104 ruminants, including 886 calves, 183 lambs and 35 kids, aged 0-6 months. In addition to clinical examination, anomalies were diagnosed by using direct and indirect radiographic examinations when necessary. In some cases, a definitive diagnosis was made by performing experimental laparotomy based on clinical and radiological examinations. 341 out of 1104 ruminants, including 234 calves, 96 lambs and 11 kids, suffered from congenital anomalies. Of the ruminants with congenital anomalies, 208 (61.00%) were male, 132 (38.70%) female and 1 (0.30%) hermaphrodite. Abdominal wall anomalies were determined with the highest number of 112 (32.9%) cases. These were followed by musculoskeletal system anomalies in 83 (24.4%) cases and gastrointestinal system anomalies in 56 (16.5%) cases. Head region anomalies occurred in 41 cases (12.1%), urinary system anomalies in 23 cases (6.8%) and CNS anomalies in 9 cases (2.6%). Multiple anomalies were recorded in 16 (4.7%) cases. In conclusion, congenital anomalies are frequently seen as pathologies in ruminants in our country, especially in our region. Avoiding inbreeding, making artificial insemination widespread, improving the care and nutrition of the dam during pregnancy, correcting adverse environmental conditions and eliminating stress factors, avoiding over-the-counter medication misuse during pregnancy and most importantly informing field veterinarians and animal owners about the subject will contribute to the prevention of congenital malformations and losses in livestock.

Congenital Anomalies in Thi-Qar: A Recent Observational Study during 2019

Background:  congenital anomalies are a significant but under recognized cause of disability and mortality among infants and children under the age of five years. They can be life-threatening conditions, result in long-term disability, and negatively affect health – care system, societies, families and individual (2). Objectives:  to estimate the prevalence of congenital malformations in our locality Thi-Qar province, most common type and any responsible factors for these anomalies. Subjects and methods: a descriptive hospital-based prospective study in one year among newborn delivered baby in Bent Al-Huda Teaching Hospital, Thi-Qar Governorate, Iraq from January 2019 -December 2019. Both the mother and her baby were examined as a unit within 24 hours of birth A medical history was taken including parents age, residency, gestational age, and thorough physical examination of the baby was made. all baby with identified birth defects were admitted to neonatal care unit for observation, investigation, evaluation and management. The data were analyzed by simple statistical techniques recording number and percentage of cases. Results: The overall prevalence of congenital anomalies among neonates was 1.26%. The first most prevalent congenital malformations were anencephaly 7.78%, down syndrome 6.11%, upper and lower limb malformation 6.11% hydrocephalus 9%, heart malformation5%. More than one system involvement was reported in (6.11%) cases. Most congenital malformations occurred in male children 52.73% anomalies, 62% > 2.5 Kg body weight &36.67% in term baby. The highest congenital abnormality is reported among babies delivered by mothers aged 20-45 years of age (i.e.,94%). More than 62 % of urban resident. Conclusion: nervous system anomalies, down syndrome, and musculoskeletal system anomalies  are most prevalent congenital malformations in Thi-Qar while the low birth prevalence of other birth defect 1.26% may be a result of institutional and personal characteristics of the documentation system. Recommendation: The more wide extensive screening programs to detect the exact prevalence, type, causes and distribution of birth defects is needed and implemented as health program.

Prevalence and Pattern of Congenital Anomalies in a Tertiary Hospital in Central Vietnam

Burden and pattern of congenital anomalies are insufficiently reported in Vietnam. This study aims to determine the prevalence and pattern of congenital anomalies in neonates in a tertiary hospital in central Vietnam. A prospective cross-sectional study recruited all newborns with congenital anomalies in Da Nang Hospital for Women and Children-where nearly 60% neonates in the city are delivered. Over a 1-year period, 551 out of 14335 registered live births were found to have congenital anomalies, equivalent to an overall prevalence of 384.4 per 10000 live births. Congenital heart defects were the most common type (52.3%) with the prevalence of 200.9 per 10000 live births, followed by anomalies of musculoskeletal system, digestive system. This study revealed a high prevalence of congenital anomalies with the most common type being congenital heart defects in central Vietnam compared to both higher income countries and resource-limited settings.

Study of congenital malformations in infants and children in Menoufia governorate, Egypt

Congenital anomalies is one of the main causes of physical disabilities, stillbirths and neonatal deaths. The exact etiology of most congenital anomalies is unidentified but genetic and environmental causes are accused.We aimed to study congenital anomalies regarding frequency, clinical pattern and associated risk factors.A cross-sectional study was conducted on 100 infants and children with congenital anomalies attended to our pediatric genetic clinic at Menoufia University Hospital from October 2016 to October 2017. Detailed history taking, clinical examination and investigations including cytogenetic study were done.Out of 100 cases, 51% have isolated anomalies and 49% have multiple anomalies, 14.2% had chromosomal abnormalities, 44.8% were diagnosed as genetic syndromes, while we did not reach the final diagnosis in 40.8% of cases. According to the ICD-10 classification of congenital anomalies musculoskeletal system anomalies were the most common in 48% of cases, followed by anomalies of the eye, ear, face and neck in 44% of cases. Anomalies of nervous system, circulatory system, genital organs, urinary system, chromosomal abnormalities, cleft lip and cleft palate occur in 26%, 22%, 18%, 12%, 7% and 6% of cases respectively.Gastrointestinal anomalies in only 4% of cases taking into account that one case may have more than one affected system. According to the guidelines for case classification for the National Birth Defects Prevention Study, 2003, 51% had major anomalies, 18% had minor anomalies while 31% had both. Some cases had undergone immediate intervention e.g. meningomyelocele, encephalocele, omphalocele and gastroschisis. While other cases required later intervention e.g. hypospadius, cleft palate and cleft lip. Male gender, consanguineous marriage and lack of maternal folic acid supplementations were found in 54%, 43% and 59% of cases respectively, constituted the main risk factors. Subjects and methodsproper physical examination, cytogenetic and molecular studies are important for the early intervention so prevention will be possible.

Advanced maternal age and risk of non-chromosomal anomalies: data from a tertiary referral hospital in Turkey

Purpose: The purpose of this study is to determine if there is a relationship between non-chromosomal fetal anomalies of various organ systems and advanced maternal age.Materials and method: This study was conducted in 387 women aged 20–53 years who underwent fetal karyotype testing due to positive prenatal test results or advanced maternal age at the Kanuni Sultan Süleyman Training and Research Hospital between September 2011 and March 2015. Fetuses with chromosomal anomalies were excluded from the study. The relationship between non-chromosomal anomalies and maternal age of women aged <35 or ≥35 years was studied.Results: More than 80% (81.7%) of non-chromosomal anomalies were detected in patients aged <35 years, and 18.3% were found in those ≥35 years. There were no statistically significant differences found between the incidence of non-chromosomal anomalies in women aged over 35 years and those under 35 years. When congenital major anomalies were evaluated with respect to various organ systems, the risk of musculo-skeletal system anomalies decreased with advancing maternal age. However, there was no statistically significant difference between the <35 and ≥35-year age groups in the incidence of central nervous system, craniofacial, cardiac, gastrointestinal system, urogenital, respiratory, and limb anomalies.Conclusion: The incidence of non-chromosomal anomalies does not increase in fetuses of pregnant women aged over 35 years, in contrast to chromosomal anomalies.

Epidemiology and structure of congenital anomalies of the newborns in the region of Novi Sad (Vojvodina, Serbia) in 1996 and 2006.

According to the World Health Organization (WHO) definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the International Classification of Diseases. The aim of this study was to compare the incidence and structure of prenatally detected and clinically manifested congenital anomalies in the newborns in the region of Novi Sad (Province of Vojvodina, Serbia) in the two distant years (1996 and 2006). This retrospective cohort study included all the children born at the Clinic for Gynecology and Obstetrics (Clinical Center of Vojvodina) in Novi Sad during 1996 and 2006. The incidence and the structure of congenital anomalies were analyzed. During 1996 there were 6,099 births and major congenital anomalies were found in 215 infants, representing 3.5%. In 2006 there were 6,628 births and major congenital anomalies were noted in 201 newborns, which is 3%. During 1996 there were more children with anomalies of musculoskeletal system, urogenital tract, with anomalies of the central nervous system and chromosomal abnormalities. During the year 2006 there were more children with cardiovascular anomalies, followed by urogenital anomalies, with significant decline in musculoskeletal anomalies. The distribution of the newborns with major congenital anomalies, regarding perinatal outcome, showed the difference between the studied years. In 2006 the increasing number of children required further investigation and treatment. There is no national registry of congenital anomalies in Serbia so the aim of this study was to enlight this topic. In the span of ten years, covering the period of the NATO campaign in Novi Sad and Serbia, the frequency of major congenital anomalies in the newborns was not increased. The most frequent anomalies observed during both years implied the musculosketelal, cardiovascular, urogenital and central nervous system. In the year 2006 there was a significant eruption of cardiovascular anomalies and a significant decrease of musculoskeletal anomalies, chromosomal abnormalities and central nervous system anomalies, while the number of urogenital anomalies declined compared to the year 1996.

Associated congenital anomalies among cases with Down syndrome

Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to which associated anomalies are most common in cases with DS with associated anomalies. In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of duodenal atresia, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of anal atresia, annular pancreas, and limb reduction defects. In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies.

PO-0691 Congenital Malformations – Incidence And Distribution Among Organ Systems (comparison Of The Incidence In The Period 2000–2004 And 2005–2009)

Background and aims Congenital malformations (CM) are defined as abnormal structure of the organism resulting from disrupted embryogenesis. Many factors influence the appearance of CM. Regarding different criteria and authors, the incidence of CM at newborns is between 2–7%. The aim of this paper was to determine the incidence of CM at liveborns delivered at SHGO “Mother Teresa” – Cair, Skopje, during the five years period (2000–2004) and five years period (2005–2009). Also, the distribution among organ system had been analysed. Methods A retrospective analysis of 19097 liveborns delivered at SHGO Cair, during 2000–2004, has been performed. Database (Access 2000) from Neonatal Unit has been used. The incidence and percentage of CM among different systems have been determined and a retrospective analysis of 15293 liveborns delivered at SHGO Cair, during 2005–2009, has been performed. Database (Access 2005) from Neonatal Unit has been used. The incidence and percentage of CM among different systems have been determined. Results Period 2000–2004, among a total of 19097 liveborns, 736 or 3,85% have had CM. the incidence between different years was:4,28% in 2000, 3,92%-2001, 3,79%- 2002, 3,20%-2003 and 3,98% in 2004. Regarding different organ systems the distibution was: 58,1% of all CM were the anomalies of musceulosceletal system, 14,6% – cardiopathies, 8,1% - anomalies of uro-genital system 7,2% -CM of gastro –intestinal system, etc. Perid 2005–2009, among a total of 15293 liveborns, 573 or 3,75% have had CM. the incidence between different years was:4,02% in 2005, 3,42%-2006, 3,22%- 2007, 4,23%-2008 and 3,85% in 2009. Regarding different organ systems the distibution was: 40,31% of all CM were the anomalies of musceulosceletal system, 21,81% - cardiopathies, 20,07% - anomalies of uro-genital system, 12,04% -CM of gastro –intestinal system, 5,76% of CNS, etc. Conclusions During the five years period (2000–2004), the incidence of CM is 3,85%, which is in accordance with data from literature. Among years, the incidence varies from 3,2 to 4,3%. During the five years period 2005–2009, the incidence of CM is 3,75%, which is in accordance with data from literature. Among years, the incidence varies from 3,2 to 4,3%. The anomalies of musculoskeletal system are the most frequent, followed by those from cardiovascular, uro-genital, gastro-intestinal and central nervous system. Comparing the five-year periods 2000–2004 and 2005–2009 shows almost identical incidence. Congenital malformations still remain an important medical and social problem requesting more serious nationwide engagement, as in medical aspect, socioeconomic, ecological, etc.

Study of incidence and prevalence of musculoskeletal anomalies in a tertiary care hospital of eastern India.

Congenital anomalies or malformations are anatomical. Structural or functional defects present at birth leads to physical and mental disabilities. With the advent of newer drugs, infectious diseases have taken the backseat and congenital defects have emerged as an important cause of neonatal morbidity and mortality. In India, anomalies of musculoskeletal system have been most commonly reported. With this in view, the present study was carried out to find the incidence and types of musculoskeletal defects in a tertiary care hospital in Eastern India. Various maternal factors were also correlated and analyzed. The purpose of this communication is to report these defects so as to help doctors and parents to prevent unexpected fetal loss and better parental counseling. This study was done in the Department of Obstetrics and Gynaecology in association with Department of Paediatrics of a tertiary care hospital in Odisha from for a period of 1 year. The newborns were examined within 1(st) three days of delivery for congenital malformations. The study group included all live borns along with still borns after 28 weeks of gestation or those dead babies whose weight was about 1kg. A thorough physical examination from head to toe was done to look for musculoskeletal defects within 24hrs of delivery. Out of total 7268 babies delivered, 116 babies were found to have anomalies. Thirty two of these had musculoskeletal defects. Talipes equinovarus was the commonest anomaly observed followed by polydactyly. The ratio of male babies with musculoskeletal defects to female babies was found to be 1.28:1.The malformed babies were mainly born to term mothers (77.6%), who were mostly unbooked (62.5%) and belonged to lower or middle class. But no significant relationship could be established between these factors and defects. Most mothers were in the age group of 20-35 years and there was no history of drug addiction, smoking, trauma or irradiation that could be related to the occurrence of congenital malformations. It is concluded that better maternal care and improved standards of living have very little effect on the overall frequency of congenital malformations. For the better future of neonates an early recognition of correctable lesions is essential, which calls for a systematic approach to the study of musculoskeletal defects.

Prevalence of Birth Defects in Korean Livebirths, 2005-2006

We investigated the livebirths prevalence and occurrence pattern of birth defects in Korea. After the survey on birth defects was done in 2,348 medical institutions around the nation, the birth defect prevalence of livebirths in 2005-2006 was calculated. This study was based on the medical insurance claims database of the National Health Insurance Corporation. The number of livebirths in Korea was 883,184 from 2005-2006, and 25,335 cases of birth defects were notified to our study, equivalent to a prevalence of 286.9 per 10,000 livebirths. Anomalies of the circulatory system were the most common defects, accounting for 43.4% of birth defects with a prevalence of 124.5 per 10,000 livebirths. It was followed by the musculoskeletal system anomalies, the digestive system anomalies, and the urinary system anomalies. The five major birth defects based on the ranking of prevalence were atrial septal defect, ventricular septal defect, hydronephrosis, patent ductus arteriosus, and cleft lip/palate. Birth defects in livebirths were associated with a high proportion of low birthweight, prematurity, multiple births and advanced maternal age. The prevalence of birth defects in Korea is similar to or lower than those reported in developed countries. Our study suggests baseline data to explain the current status of birth defects and to establish a registry system of birth defects in Korea.

Major congenital anomalies: a five-year retrospective regional study in Turkey

We examined the distribution and demographic characteristics of congenital anomalies in a Turkish province for five years. The records of 63,159 live births between 2000 and 2004 were examined retrospectively. Major congenital anomalies were classified according to year, organ system, gender, family relationship, maternal age, mortality rate, and method of delivery. There were 183 cases of major birth defects among 63,159 live births, giving a prevalence of 2.9/1000. Anomalies of the central nervous system were the most common defect (31%), followed by cleft palate/lip (19%), musculoskeletal system anomalies (14%), and chromosomal anomalies (13%). Among the infants with major anomalies, 14% did not survive, 56% were delivered vaginally, and 25% were miscarried. There was a significant increase in rate of major congenital anomalies during the five-year period.