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Birth Defects Original Article Series 1975An analysis was made of over 30 demographic, biologic and medical variables in relation to risks of congenital malformations which occurred in the Collaborative... (Review)
Review
An analysis was made of over 30 demographic, biologic and medical variables in relation to risks of congenital malformations which occurred in the Collaborative Perinatal Project. The study population consisted of 46,689 single and multiple live births and fetal deaths about whom complete information was available on all study variables. Included in the analysis were 5 general malformation categories, 27 specific major, and 7 specific minor malformations. Several new associations were detected between epidemiologic factors and risks of specific malformations while other previously reported associations were confirmed by the present investigation. The analysis of general categories of malformations showed that multiple births had a higher frequency of major malformations than single births; whenever sex differences in incidence were noted, males, with few exceptions, had an excess of malformations over females; and maternal diabetes during pregnancy was associated with increased risk of major malformations in the fetus. Among specific findings of possible etiologic significance were that the risk for microcephaly was associated with infrequent prenatal visits and the presence of maternal hyperthyroidism; and unusually low weight gain and infrequent prenatal visits were associated with increased risk for lung hypoplasia. There was no significant effect of inbreeding of the fetus or mother on the risks of general or specific types of malformations. Anencephaly was more frequent among white than among Negro infants, whereas no difference in incidence was noted in spina bifida between the two racial groups. This finding points to an inconsistency in the hypothesis of common etiology for these malformations. Whites were also found to have significantly higher incidences over Negroes of pyloric stenosis, congenital dislocation of the hip, micrognathia, and pectus excavatum, while Negroes have higher incidences of metatarsus varus and inguinal hernia.
Topics: Cataract; Central Nervous System; Cleft Lip; Cleft Palate; Clubfoot; Congenital Abnormalities; Down Syndrome; Female; Heart Defects, Congenital; Hernia; Humans; Infant, Newborn; Lung; Male; Musculoskeletal Abnormalities; Prospective Studies; Pyloric Stenosis; Racial Groups; Regression Analysis; Risk; United States; Urogenital Abnormalities
PubMed: 130944
DOI: No ID Found -
Pediatric Surgery International Apr 2006Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during... (Review)
Review
Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.
Topics: Animals; Comorbidity; Congenital Abnormalities; Genetic Predisposition to Disease; Hirschsprung Disease; Humans; Incidence; Mice
PubMed: 16518596
DOI: 10.1007/s00383-006-1655-2 -
Acta Geneticae Medicae Et Gemellologiae 1976Among 1195 twins born in the Collaborative Perinatal Project, for whom information was available, 219 (18.33%) were found to have malformations, 179 (14.98%) single and...
Among 1195 twins born in the Collaborative Perinatal Project, for whom information was available, 219 (18.33%) were found to have malformations, 179 (14.98%) single and 40 (3.35%) multiple. The frequency of malformations among twins was significantly higher than that among singletons from the same population, but the difference was entirely contributed by MZ twins. This holds true for both major and minor malformations. The frequency among Negro twins was higher than among white, and among male twins higher than among female. Twins had more malformations of the central nervous, musculoskeletal, ear, respiratory, cardiovascular, and alimentary systems and fewer malformations of the genitourinary and integumentary systems than singletons. In a significant number of cases when one twin of a pair had a malformation, the cotwin also had a malformation though not necessarily the same as that of the first twin.
Topics: Abnormalities, Multiple; Congenital Abnormalities; Diseases in Twins; Female; Humans; Pregnancy; Twins, Dizygotic; Twins, Monozygotic
PubMed: 1036380
DOI: 10.1017/s0001566000014380 -
International Journal of Epidemiology Jun 2005Intracytoplasmic sperm injection (ICSI) is a method of assisted reproductive technology that involves the selection of a single sperm cell and the manual injection of... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Intracytoplasmic sperm injection (ICSI) is a method of assisted reproductive technology that involves the selection of a single sperm cell and the manual injection of this cell into the egg. The lack of relevant experimental studies, the nature of the technology involving non-natural selection of the fertilizing sperm, and possible damage to the egg have caused concern that ICSI could increase the risk of birth defects. Data from available cohort studies comparing ICSI with standard in vitro fertilization (IVF) should be combined to evaluate the risks involved with ICSI.
METHODS
We reviewed more than 2500 titles and abstracts containing keywords related to ICSI and identified 22 scientific articles with data on birth defects among ICSI-births. A total of four peer-reviewed, non-overlapping prospective cohort studies provided reliable and comparable data on birth defects both for children conceived by ICSI and children conceived by standard IVF. These studies included a total of 5395 children born after ICSI.
RESULTS
The pooled estimate of the risk of a major birth defect was a 1.12-fold increase after ICSI when compared with standard IVF (risk ratio = 1.12, 95% confidence interval (CI): 0.97-1.28, P = 0.12). There was no marked heterogeneity of risk ratios between these studies (P = 0.10). We found no significantly increased risks after ICSI for any of the categories cardiovascular defects, musculoskeletal defects, hypospadias, neural tube defects, or oral clefts.
CONCLUSIONS
Our analysis does not indicate that the ICSI-procedure represents significant additional risks of major birth defects in addition to the risk involved in standard IVF. The data was limited, particularly on risks of specific categories of defects.
Topics: Cardiovascular Abnormalities; Congenital Abnormalities; Fertilization in Vitro; Humans; Hypospadias; Male; Mouth Abnormalities; Musculoskeletal Abnormalities; Neural Tube Defects; Risk Factors; Sperm Injections, Intracytoplasmic
PubMed: 15561745
DOI: 10.1093/ije/dyh363 -
Mayo Clinic Proceedings Jun 1965
Review
Topics: Bone Diseases; Congenital Abnormalities; Humans; Musculoskeletal System
PubMed: 14299796
DOI: No ID Found -
Congenital Anomalies May 2022The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal...
The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal malformations with diabetes mellitus in pregnancy in the literature evidence of the past 50 years. Literature on maternal diabetes and skeletal malformation was searched by two independent authors by following PRISMA guidelines. Strict inclusion and exclusion criteria were followed. After quality assessment, 21 original articles were included. The frequency of congenital malformation, skeletal malformation was extracted from the included studies. 11,574 congenital anomalies were detected diabetic mothers. 1182 skeletal anomalies were noted in 20,11 552 diabetic mothers. The skeletal malformation was noted in 20.4% of total anomalies. The most common skeletal malformation was the defect of the spine (39.9%). The limb deficiency was found in 32.8% of the infants of diabetic mothers. The skeletal malformations were higher, that is, 24.6% in pre-gestational diabetes. The incidence of skeletal malformation from the evidence was 1.5% (range: 0.03-4.27%) in maternal diabetes. Pre-gestation diabetes is more frequently associated with skeletal malformations, which is 1.9% (range: 0.07-5.89%). The association of congenital malformations and skeletal malformations in diabetic pregnancy is significant and hence, effective management of diabetes in childbearing age is essential to reduce this incidence and related long-term morbidity.
Topics: Congenital Abnormalities; Diabetes, Gestational; Female; Humans; Infant; Musculoskeletal Abnormalities; Pregnancy; Pregnancy in Diabetics
PubMed: 35319786
DOI: 10.1111/cga.12463 -
American Journal of Medical Genetics.... Aug 2017Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with...
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA.
Topics: Abnormalities, Multiple; Anal Canal; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Esophageal Atresia; Esophagus; Female; Fetus; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; Male; Pregnancy; Spine; Stillbirth; Trachea
PubMed: 28577344
DOI: 10.1002/ajmg.a.38303 -
Texas Heart Institute Journal Jan 2023Sternal cleft accompanied by pectus excavatum is a rare type of congenital anomaly of the chest wall. Surgical correction is a suitable approach to restore the heart,...
Sternal cleft accompanied by pectus excavatum is a rare type of congenital anomaly of the chest wall. Surgical correction is a suitable approach to restore the heart, large vessels, and respiratory dynamics early. This is a report of the successful surgical correction of upper sternal cleft anomaly accompanied by pectus excavatum in a child. The pectus excavatum was corrected without the use of any prosthesis. The cleft was closed by primary approximation with enough dissected pectoralis major muscle and partial thymectomy, mobility, and flexibility ensured by pectus correction. The integrity of the sternum and the chest wall was normal at the end of the 12-month follow-up period.
Topics: Child; Humans; Funnel Chest; Sternum; Musculoskeletal Abnormalities; Heart
PubMed: 36735607
DOI: 10.14503/THIJ-21-7721 -
The American Journal of Case Reports Oct 2022BACKGROUND Sternal cleft is a greatly rare congenital thoracic deformity, arising from a failure of the sternal bars fusion process that should be completed in the fetal... (Review)
Review
BACKGROUND Sternal cleft is a greatly rare congenital thoracic deformity, arising from a failure of the sternal bars fusion process that should be completed in the fetal period, the incidence of which is less than 0.15%. CASE REPORT Herein, we present a case report of a newborn girl having a superior congenital sternal cleft. After the baby was born, scar-like tissue was found in the middle of the chest and extended to the root of the umbilical cord. Based on the imaging data, this newborn was diagnosed with sternal cleft belonging to the superior sternal cleft and not associated with other congenital deformities. CONCLUSIONS As a rare congenital thoracic deformity, postpartum diagnosis of the sternal cleft mainly is currently based on medical imaging, including thoracic computed tomography (CT), three-dimensional (3D) reconstruction CT, and magnetic resonance imaging (MRI). Sternum cleft not only affects the aesthetic appearance but also leads to the destruction of the bone structure of the thorax, resulting in opposing thoracic movements. Therefore, early diagnosis and early treatment play significant roles in the treatment of this congenital sternal deformity. Regardless of whether there are clinical symptoms of sternal cleft, primary repair surgery must be done as soon as possible and during the neonatal period is best, in which simple surgical techniques achieve remarkable effects.
Topics: Infant, Newborn; Female; Humans; Sternum; Musculoskeletal Abnormalities; Tomography, X-Ray Computed; Radiography
PubMed: 36269683
DOI: 10.12659/AJCR.937443 -
Journal of Child Neurology Feb 2017Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be...
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Developmental Disabilities; Face; Female; Forearm; Hand Deformities, Congenital; Hip Dislocation, Congenital; Histone-Lysine N-Methyltransferase; Humans; Hypertrichosis; Male; Musculoskeletal Abnormalities; Mutation; Myeloid-Lymphoid Leukemia Protein; Syndrome
PubMed: 27777327
DOI: 10.1177/0883073816674095