RESUMO
Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32-1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature.
Assuntos
Anormalidades Congênitas/epidemiologia , Doenças em Gêmeos/epidemiologia , Cooperação Internacional , Vigilância da População/métodos , Gêmeos Unidos , Gêmeos Monozigóticos , América/epidemiologia , Austrália/epidemiologia , Pesquisa Biomédica/tendências , China/epidemiologia , Anormalidades Congênitas/patologia , Doenças em Gêmeos/patologia , Estudos Epidemiológicos , Europa (Continente)/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Prevalência , Sistema de Registros , Razão de Masculinidade , Gêmeos Unidos/patologiaRESUMO
Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies.
Assuntos
Anormalidades Congênitas/epidemiologia , Ectromelia/epidemiologia , Cooperação Internacional , Vigilância da População/métodos , Adulto , América/epidemiologia , Austrália/epidemiologia , Pesquisa Biomédica/tendências , China/epidemiologia , Anormalidades Congênitas/patologia , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/patologia , Ectromelia/patologia , Estudos Epidemiológicos , Europa (Continente)/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Idade Materna , Gravidez , Prevalência , Sistema de Registros , Adulto JovemRESUMO
OBJECTIVES: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are different conditions. DESIGN AND SETTINGS: Included were 1416 cleft cases (CL = 131, CLP = 565, CP = 720), among 8304 live- and stillborn infants with multiple congenital anomalies, from 6,559,028 births reported to the International Clearinghouse for Birth Defects Surveillance and Research by 15 registries between 1994 and 2004. Rates of associated anomalies were established, and multinomial logistic regressions applied to identify significant associations. RESULTS: Positive associations with clefts were observed for only a few defects, among which anencephaly, encephaloceles, club feet, and ear anomalies were the most outstanding. Anomalies negatively associated with clefts included congenital heart defects, VATER complex (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia), and spina bifida. CONCLUSION: The strong association between all types of clefts and anencephaly seems to be attributable to cases with disruptions; the association between CP and club feet seems to be attributable to conditions with fetal akinesia. Some negative associations may depend on methodologic factors, while others, such as clefts with VATER components or clefts with spina bifida, may depend on biological factors. The different patterns of defects associated with CL and CLP, indicating different underlying mechanisms, suggest that CL and CLP reflect more than just variable degrees of severity, and that distinct pathways might be involved.
Assuntos
Anormalidades Múltiplas/epidemiologia , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anencefalia/epidemiologia , Anus Imperfurado/epidemiologia , Pé Torto Equinovaro/epidemiologia , Anormalidades Congênitas/epidemiologia , Orelha/anormalidades , Encefalocele/epidemiologia , Saúde Global , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido , Rim/anormalidades , Vigilância da População , Sistema de Registros/estatística & dados numéricos , Disrafismo Espinal/epidemiologia , Coluna Vertebral/anormalidades , Natimorto/epidemiologia , Fístula Traqueoesofágica/epidemiologiaAssuntos
Anormalidades Múltiplas/genética , Mutação , Osteocondrodisplasias/patologia , Proteínas/genética , Anormalidades Múltiplas/patologia , Argentina , Chile , Análise Mutacional de DNA , Saúde da Família , Feminino , Transtornos do Crescimento/patologia , Guam , Haplótipos , Humanos , Deficiência Intelectual/patologia , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Linhagem , Polimorfismo de Nucleotídeo Único , Espanha , SíndromeRESUMO
OBJECTIVES: To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS). STUDY DESIGN: Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in Spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals. RESULTS: Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85). CONCLUSIONS: Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration.
Assuntos
Síndrome de Goldenhar/epidemiologia , Gravidez em Diabéticas/complicações , Adulto , Estudos de Casos e Controles , Feminino , Síndrome de Goldenhar/etiologia , Humanos , Incidência , Recém-Nascido , Masculino , Razão de Chances , Gravidez , Sistema de Registros , Fatores de Risco , Espanha/epidemiologiaRESUMO
El presente documento tiene como propósito establecer un Centro de Control e Información de Intoxicaciones para brindar información integral e implementar acciones de promoción, prevención, concientización y asistencia de intoxicaciones a la población