RESUMO
BACKGROUND: Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC and the role of AB, minimizing subjectivity. METHODS: Data were obtained from the ECLAMC maternity hospitals network database. A total of 450 live and stillborn infants, born during 1967-2013, with AB or the LBWC were selected. A hierarchical cluster analysis was used to classify cases into homogeneous groups (sharing similar associated defects); robustness of the classification was confirmed with a discriminant analysis. The frequency of associated defects was compared among groups; those whose frequency differed significantly were included in a logistic regression to establish their association within each group. RESULTS: The cluster analysis identified two groups: a body wall defect (BWD) predominating in one, AB in the other. These groups were further divided into: BWD (cases with only BWD), AB (with only AB), BWD + AB, and NONE (with neither). Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD + AB. CONCLUSIONS: The results, obtained with the least possible subjectivity, indicated that BWD and BWD + AB are different conditions. Since BWD specifically associates with amelia, we propose that this defect and not any limb deficiency should be considered as inclusion criterium and that it should be included in the BWD acronym as LBWC.
Assuntos
Anormalidades Múltiplas , Síndrome de Bandas Amnióticas , Bases de Dados Factuais , Ectromelia , Natimorto/epidemiologia , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/patologia , Síndrome de Bandas Amnióticas/epidemiologia , Síndrome de Bandas Amnióticas/patologia , Ectromelia/epidemiologia , Ectromelia/patologia , Feminino , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014. METHODS: This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends. RESULTS: The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010. CONCLUSION: The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604-611, 2016. © 2016 Wiley Periodicals, Inc.
Assuntos
Ectromelia/epidemiologia , Argentina/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Prevalência , Estudos RetrospectivosAssuntos
Anormalidades Múltiplas/genética , Ectromelia/genética , Deformidades Congênitas do Pé/genética , Genes Dominantes , Deformidades Congênitas da Mão/genética , Nariz/anormalidades , Anormalidades Múltiplas/epidemiologia , Ectromelia/epidemiologia , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas da Mão/epidemiologia , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-IdadeRESUMO
La sirenomelia es una anomalía congénita extremadamente rara, se caracteriza por tener extremidades inferiores fusionadas o la presencia de un único y rudimentario miembro inferior. Se presenta un caso de sirenomelia, que se diagnosticó al nacer; con el objetivo de describir las características clínicas, epidemiológicas y ultrasonográficas de esta anomalía congénita, se plantea como posible causa un fenómeno vascular disruptivo. El oligoamnios severo durante el segundo trimestre del embarazo constituye uno de los signos ultrasonográficos de sospecha para sirenomelia
The sirenomelia is a very uncommon congenital anomaly characterized by fusion of lower extremities or the presence of an only and rudimentary lower limb. This is the case of sirenomelia diagnosed at birth to describe the clinical, epidemiological, ultrasonographic features of this congenital anomaly considering that the possible cause if a disruptive vascular phenomenon. The severe oligohydramnios during the second trimester of pregnancy is one of the suspected ultrasonographic signs for the sirenomelia
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Ectromelia/epidemiologia , Ectromelia , Relatos de CasosRESUMO
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.
Assuntos
Ectromelia/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Extremidade Superior/anatomia & histologia , Extremidade Superior/embriologia , Ectromelia/epidemiologia , Ectromelia/história , Feminino , História do Século XVIII , História do Século XIX , História Antiga , Humanos , Incidência , Masculino , Polidactilia/diagnóstico , Polidactilia/epidemiologia , Polidactilia/história , Deformidades Congênitas das Extremidades Superiores/epidemiologia , Deformidades Congênitas das Extremidades Superiores/história , Índias Ocidentais/epidemiologiaRESUMO
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
BACKGROUND: One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. METHODS: An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, comparison with comprehensively collected local, South American, and worldwide data, cluster analysis, and search for risk factors. RESULTS: All four Cali sirenomelia cases were born to mothers living in a 2 km(2) area, in neighboring communes, within the municipality of Cali. Considering the total births of the city of Cali as the denominator, and based on ECLAMC baseline birth prevalence rates (per 100,000) for sirenomelia (2.25, 95% CI: 2.66, 3.80), the cluster for this congenital abnormality was unlikely to have occurred by chance (observed/expected ratio = 5.77; 95% CI: 1.57-14.78; p = .002). No consistent common factor was identified, but vicinity to an open landfill as the cause could not be rejected. Another ECLAMC hospital in San Justo, Buenos Aires, Argentina, reported three further cases but these did not seem to constitute a nonrandom cluster. CONCLUSIONS: The methodology used to evaluate the two possible clusters of sirenomelia determined that the Cali sirenomelia cluster was unlikely to have occurred by chance whereas the sirenomelia cluster from San Justo seemed to be random.
Assuntos
Ectromelia/epidemiologia , Análise por Conglomerados , Anormalidades Congênitas/epidemiologia , Ectromelia/classificação , Ectromelia/etiologia , Humanos , Prevalência , Fatores de Risco , América do Sul/epidemiologiaRESUMO
Sirenomelia and cyclopia share etiologic and pathogenic characteristics. A cluster of these two patterns of malformation in the city of Cali, Colombia, is described. Four sirenomelia and four cyclopia cases were born within a 165 days period in one hospital in Cali. The lapse between conception dates of first and last cases was shorter for sirenomelia (53 days) than for cyclopia (231 days). Based on ECLAMC (Latin American Collaborative Study of Congenital Malformations) published data, the observed/expected ratio (5.7) for both defects is statistically significant (P < 0.001). Mother's residence during the first trimester of pregnancy is concentrated in a same city quarter for four of the eight cases, close to a know polluting active landfill, and the other four cases, along the Cauca river, downstream from this landfill. Birth prevalence rates for two sentinel anomalies, that is, anal and esophageal atresia for sirenomelia and oral clefts for DeMyer holoprosencephaly spectra, were not higher in Cali than in the rest of ECLAMC material. The Computer Assisted Telephone Interviewing was applied to mothers of the 8 patients, and 32 matched controls. Seven of 295 variables were associated with sirenomelia, 3 of them related to house tap water, one to exposure to street drugs, one to physical injury, and 2 secondary to abnormal pregnancy outcome. None was associated with cyclopia. Results from hair dosage of heavy metals in the 8 patient's mothers were inconsistent. The time-space cluster is nonrandom for sirenomelia, and possibly random for cyclopia. The polluting landfill remains as a possible etiological factor.
Assuntos
Anormalidades Múltiplas/epidemiologia , Análise por Conglomerados , Ectromelia/epidemiologia , Anormalidades do Olho/epidemiologia , Exposição Materna , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/patologia , Adulto , Anus Imperfurado/etiologia , Anus Imperfurado/patologia , Fissura Palatina/etiologia , Fissura Palatina/patologia , Colômbia/epidemiologia , Ectromelia/etiologia , Ectromelia/patologia , Atresia Esofágica/etiologia , Atresia Esofágica/patologia , Anormalidades do Olho/etiologia , Anormalidades do Olho/patologia , Feminino , Humanos , Recém-Nascido , Masculino , Metais Pesados/análise , Gravidez , Características de Residência , Natimorto , Inquéritos e Questionários , Fatores de Tempo , Poluentes Químicos da ÁguaRESUMO
Starting from a data base of over one million births investigated in 11 countries as a part of the Latin American Study of Congenital Malformations, 1,428 babies with three or more malformations without known pathogenesis or cause were studied. The objective was to search for statistically significant associations between defects and the delineation of new syndromes. One hundred and twenty-one patients presented an association between malformations of the digestive and urogenital systems involving mainly anal, renal, and genital anomalies, while 21 of them had 3 or more VACTERL defects. The frequencies of these defects were intermediate between those observed for VACTERL or sirenomelia, supporting the idea that these conditions have a similar pathogenesis. Statistical approaches like this one may be helpful in identifying processes and biological entities that may be missed using simple clinical observations.