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1.
Caries Res ; 47(4): 273-83, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23363935

RESUMO

Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1-5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs (PART1, ZSWIM6, CCNB1, and BTF3). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.


Assuntos
Mapeamento Cromossômico/métodos , Cromossomos Humanos Par 5/genética , Suscetibilidade à Cárie Dentária/genética , Cárie Dentária/genética , Estudos de Casos e Controles , Índice CPO , Cárie Dentária/prevenção & controle , Humanos , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Proteínas e Peptídeos Salivares/genética , Fatores de Transcrição/genética
2.
Am J Med Genet A ; 143A(24): 3216-27, 2007 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-18000905

RESUMO

The aim of this work was to search for unequal birth prevalence rates (BPRs) of cleft lip +/- cleft palate (CL/P), and cleft palate only (CPO), among different geographic areas in South America, and to analyze phenotypic characteristics and associated risk factors in each identified cluster. Included were 5,128 CL/P cases, 1,745 CPO cases, and 3,712 controls (like-sexed, non-malformed liveborn infant, born immediately after a malformed one, in the same hospital), over 4,199,630 consecutive births. They were ascertained between 1967 and 2004, in 190 maternity hospitals of the ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) network, in 102 cities of all 10 South American countries. Non-predefined geographical areas with significantly unusual cleft BPRs were identified with Kulldorf and Nagarwalla's spatial scan statistic, employing number of cases and births, and exact location of each hospital. Expected values were cleft BPRs registered for the entire ECLAMC hospital network. Syndromic and non-syndromic clefts were considered for cluster analysis, and phenotypic characterization, while only non-syndromic for risk factor analysis. Seven clusters for CL/P, and four for CPO, with unusual BPRs were identified. CL/P cases in high BPR areas were more severe than elsewhere in the sample, similar to a previous ECLAMC report on microtia. For CL/P, high BPR clusters were associated with high altitude above sea level, Amerindian ancestry, and low socioeconomic strata; low BPR clusters showed association with African Black ancestry. Advanced maternal age, a recognized risk factor for CPO, was also associated with the only identified geographic cluster for CPO.


Assuntos
Fenda Labial/diagnóstico , Fenda Labial/epidemiologia , Fissura Palatina/diagnóstico , Fissura Palatina/epidemiologia , Adulto , Análise por Conglomerados , Feminino , Geografia , Humanos , Lactente , Masculino , Modelos Estatísticos , Razão de Chances , Fenótipo , Prevalência , Fatores de Risco , Fatores Sexuais , América do Sul , Síndrome
3.
J Med Genet ; 43(6): e26, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16740910

RESUMO

BACKGROUND: Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS: Genotype based linkage disequilibrium analysis was conducted using the family based association test (FBAT) and the likelihood ratio test (LRT). We also carried out direct sequencing of the PVR and PVRL2 candidate genes based on their homology to PVRL1, a gene shown previously to cause Margarita Island clefting. Participants included 434 patients with cleft lip with or without cleft palate or cleft palate only and their mothers from eight countries in South America, 205 nuclear triads (father-mother-affected child) from Iowa, 541 nuclear triads from Denmark, and 100 patients with cleft lip and palate from the Philippines. RESULTS: An allelic variant in the PVR gene showed statistically significant association with both South American and Iowa populations (p = 0.0007 and p = 0.0009, respectively). Direct sequencing of PVR and PVRL2 yielded 26 variants, including two rare amino acid changes, one in each gene, which were not seen in controls. CONCLUSIONS: We found an association between a common variant in a gene at 19q and isolated clefting in two heterogeneous populations. However, it is unclear from our data if rare variants in PVR and PVRL2 are sufficient to cause clefting in isolation.


Assuntos
Cromossomos Humanos Par 19 , Fenda Labial/genética , Fissura Palatina/genética , Alelos , Sequência de Aminoácidos , Moléculas de Adesão Celular , Mapeamento Cromossômico , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Análise Mutacional de DNA , Feminino , Frequência do Gene , Variação Genética , Humanos , Iowa/etnologia , Desequilíbrio de Ligação , Masculino , Glicoproteínas de Membrana/química , Glicoproteínas de Membrana/genética , Proteínas de Membrana/genética , Dados de Sequência Molecular , Nectinas , Receptores Virais/genética , Alinhamento de Sequência , América do Sul/etnologia
4.
J Med Genet ; 40(6): 399-407, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12807959

RESUMO

MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and sequence highly conserved elements. The samples studied were drawn from a panethnic collection including people of European, Asian, and native South American ancestry. The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. These included missense mutations in conserved amino acids and point mutations in conserved regions not identified in any of 500 controls sequenced. Five different missense mutations in seven unrelated subjects with clefting are described. Evolutionary sequence comparisons of all known Msx1 orthologues placed the amino acid substitutions in context. Four rare mutations were found in non-coding regions that are highly conserved and disrupt probable regulatory regions. In addition, a panel of 18 population specific polymorphic variants were identified that will be useful in future haplotype analyses of MSX1. MSX1 mutations are found in 2% of cases of clefting and should be considered for genetic counselling implications, particularly in those families in which autosomal dominant inheritance patterns or dental anomalies appear to be cosegregating with the clefting phenotype.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Análise Mutacional de DNA/métodos , Proteínas de Homeodomínio/fisiologia , Fatores de Transcrição/fisiologia , Sequência de Aminoácidos/genética , Animais , Ásia , Estudos de Casos e Controles , Bovinos , Galinhas/genética , DNA/genética , Europa (Continente) , Variação Genética/genética , Genética Populacional/métodos , Proteínas de Homeodomínio/química , Proteínas de Homeodomínio/genética , Humanos , Desequilíbrio de Ligação/genética , Fator de Transcrição MSX1 , Camundongos , Dados de Sequência Molecular , Mutação/genética , Polimorfismo Genético/genética , Ratos , Alinhamento de Sequência/métodos , América do Sul , Síndrome , Fatores de Transcrição/química , Fatores de Transcrição/genética , Regiões não Traduzidas/genética , Proteínas de Xenopus/genética
5.
Environ Health Perspect ; 108(3): 193-7, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10706523

RESUMO

In this study, we analyze the association between industrial activity and the occurrence of 34 congenital anomalies. We selected 21 counties in Argentina during 1982-1994 and examined a total of 614,796 births in these counties in consecutive series. We used the International Standard Industrial Classification of All Economic Activities (United Nations, 1968) as an indicator of exposure to 80 specific industrial activities. Incidence rate ratios for each congenital anomaly were adjusted by the socioeconomic level of the county according to a census index of social deprivation. For a given exposure/anomaly association to be considered as significant and relevant, the exposure had to be a statistically significant risk for the occurrence of the anomaly and an increase in the birth prevalence rate of the congenital anomaly type involved had to be observed in those counties where the putative causal activity was being performed. Significant associations (p < 0.01) were identified between textile industry and anencephaly, and between the manufacture of engines and turbines and microcephaly. These observations are consistent with previous reports on occupational exposure, and their further investigation by means of case-control studies is recommended.


Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Exposição Ambiental/efeitos adversos , Indústrias/tendências , Argentina/epidemiologia , Coeficiente de Natalidade/tendências , Países em Desenvolvimento , Exposição Ambiental/análise , Maternidades , Humanos , Incidência , Indústrias/economia , Indústrias/estatística & dados numéricos , Recém-Nascido , Vigilância da População , Pobreza/estatística & dados numéricos , Pobreza/tendências , Prevalência , Sistema de Registros , Fatores de Risco , Fatores Socioeconômicos
6.
Am J Med Genet ; 52(3): 319-23, 1994 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-7810563

RESUMO

Anencephaly is Suspected to cluster in the municipality of Cubatão (Brazil), and is attributed to industrial pollution. We surveyed malformations prospectively in 10,000 births, in 3 consecutive series, corresponding to 3 maternity hospital in Cubatão, under working definitions and norms taken from the ECLAMC (Latin American Collaborative Study of Congenital Malformations). The sample from Cubatão had a higher proportion of black racial ancestry, and lower frequencies for stillbirths and for immediate neonatal death, than in the rest of South America. The birth prevalence of malformations varied between the 3 hospitals in Cubatão, due to differences in ascertainment of minor defects. A higher-than-expected prevalence rate in Cubatão was observed only for postaxial polydactyly, probably due to a higher proportion of black racial ancestry, while lower-than-expected rates were obtained for congenital dislocation of the hip, and for babies with multiple congenital anomalies patterns, both of them attributed to underascertainment of minor defects. These observations do not support the suspicion of an elevated birth prevalence rate for anencephaly, neural tube defects, or any other major congenital malformation in Cubatão.


Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Poluição Ambiental/efeitos adversos , Anencefalia/epidemiologia , Anencefalia/etiologia , População Negra/genética , Brasil/epidemiologia , Análise por Conglomerados , Anormalidades Congênitas/genética , Feminino , Humanos , Recém-Nascido , Masculino , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/etiologia , Polidactilia/epidemiologia , Polidactilia/genética , Gravidez
7.
Am J Med Genet ; 82(3): 219-24, 1999 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-10215544

RESUMO

It was recently shown that hand postaxial polydactyly differed from foot postaxial polydactyly. The aim of this work was to test whether thumb and hallux duplication also had different clinical and epidemiological characteristics, depending on limb involvement. We studied 920 newborn infants with first digit duplication, ascertained among 3,444,374 births by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), from 1967 to 1995. Since biphalangeal thumb duplication or hallux duplication can occur in families with triphalangeal thumb or polysyndactylous propositi, these groups were also analyzed. The 715 isolated (nonsyndromal) cases (prevalence 2.08 per 10,000) were subdivided into five groups: thumb duplication (N = 568; prevalence: 1.65/10,000); hallux duplication (N = 82; prevalence: 0.24); thumb and/or hallux duplication plus syndactyly (polysyndactyly) (N = 37; prevalence: 0.11); triphalangeal thumb (N = 24; prevalence: 0.07), and thumb duplication plus hallux duplication (N = 4; prevalence: 0.01). Both thumb and hallux duplication groups showed a significant excess of males, and right sidedness was also more frequent in both of them, though without statistical significance for hallux duplication. Thumb duplication was more often unilateral (94.7% versus hallux duplication of 81.5%), and its prevalence was higher in Bolivia (3.37/10,000) than in the other 10 Latin-American countries included (1.62/10,000). In a subseries of 405 preaxial polydactylies with matched controls, a logistic regression analysis showed that birth weight and gestational age had an effect on the calculated risk of having an infant with thumb duplication, while first trimester vaginal bleeding had only a borderline effect. None of the polydactyly groups showed abnormal values for twinning, perinatal mortality, ethnicity, maternal education, parental ages, parity, parental subfertility, or consanguinity. There were 70/405 familial cases. Their pedigrees were compatible with autosomal dominant inheritance with a 9% penetrance for thumb duplication and hallux duplication and a 70% penetrance for triphalangeal thumb and polysyndactyly. Inheritance of thumb duplication and probably the untested inheritance of hallux duplication were also compatible with a four-locus multiplicative model. The observed differences in laterality, geographical distribution, birth weight, gestational age, and first trimester vaginal bleeding between thumb duplication and hallux duplication groups suggested that apparent preaxial polydactyly type 1 is a causally heterogeneous group.


Assuntos
Hallux/anormalidades , Polidactilia/genética , Polegar/anormalidades , Peso ao Nascer , América Central , Feminino , Humanos , Modelos Genéticos , Polidactilia/epidemiologia , Gravidez , Complicações Cardiovasculares na Gravidez , Prevalência , Análise de Regressão , Fatores de Risco , Hemorragia Uterina
8.
Am J Med Genet ; 22(4): 695-702, 1985 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-3907353

RESUMO

We present data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC) on prevalence rates and etiologic factor associations in neural tube defects. Two series of data are analyzed: the A series, including 740,139 consecutive infants born in the 1967-1979 period suitable for secular trend analysis and case-control study of risk factors; and the B series, including 255,834 consecutive stillborn and liveborn infants of the 1980-1982 period suitable for prevalence rate analysis. Anencephaly was registered in 6.0/10,000 births, A spina bifida aperta in 6.2/10,000 births, and cephalocele in 2.4/10,000 births. A stable secular trend was observed for the frequency of all three neural tube defect types. Spina bifida was more frequent in Chile than in the rest of South America. No differences in prevalence rates were seen between tropical and non tropical areas. Parental consanguinity and environmental prenatal factors including maternal illnesses, drug intake, and radiation exposure were found in association with anencephaly and spina bifida.


Assuntos
Defeitos do Tubo Neural/epidemiologia , Anencefalia/epidemiologia , Deficiência de Vitaminas/complicações , Clima , Geografia , Humanos , Risco , América do Sul , Espinha Bífida Oculta/epidemiologia
9.
Am J Med Genet ; 58(2): 106-12, 1995 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-8533798

RESUMO

Congenital "healed" cleft lip (CHCL) is an unusual anomaly including a paramedian "scar" of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and "collapsed" nostril. Twenty-five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America. Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family. The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery. CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre-occurrence of CHCL in two families suggests a familial predisposition to this phenomenon.


Assuntos
Cicatriz/genética , Fenda Labial/epidemiologia , Fenda Labial/genética , Adulto , Estudos de Casos e Controles , Cicatriz/epidemiologia , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Prevalência
10.
Am J Med Genet ; 63(4): 529-36, 1996 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-8826430

RESUMO

This study departed from a preconceived definition of VACTERL, including more than one of these six anomalies in the same infant: V (vertebral anomalies), A (anal atresia), C (congenital heart disease), TE (tracheoesophageal fistula or esophageal atresia), R (reno-urinary anomalies), and L (radial limb defect). Under this definition, 524 infants were ascertained by ECLAMC from almost 3,000,000 births examined from 1967 through 1990. Observed association rates among VACTERL components as well as between VACTERL and other defects were compared against randomly expected values obtained from 10,084 multiply malformed infants (casuistic method) from the same birth sample. Conclusions were: 1) Cardiac defects are not a part of VACTERL. 2) Single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies that are secondary to VACTERL components (intestinal and respiratory anomalies, and oligohydramnios sequence defects) are frequent enough to be considered an "extension" of VACTERL, and cardiac defects should be included in this category. 3) Neural tube defects are negatively associated with VACTERL which could not be explained by selection bias or any other operational artifact. High embryonic lethality or mutually exclusive pathogenetic mechanisms could be suitable explanations. 4) Results were not clear enough to determine whether VACTERL should be defined by at least two or three component defects.


Assuntos
Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/etiologia , Anus Imperfurado/complicações , Anus Imperfurado/epidemiologia , Cromossomos Humanos Par 18 , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Atresia Esofágica/complicações , Atresia Esofágica/epidemiologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros , Modelos Biológicos , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/epidemiologia , Trissomia
11.
Am J Med Genet ; 73(2): 162-9, 1997 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-9409866

RESUMO

This work analyzed the incidence of risk factors in 138 cases presenting two or more of five components defining VATERL, with no other recognized unrelated anomalies: vertebral anomalies, anal atresia, esophageal atresia with or without tracheoesophageal fistula, renal anomalies, and preaxial defects of the upper limbs, including polydactyly of the thumb. The 138 infants were ascertained among 1,811,461 births examined in the 1967-1994 period by the Latin-American Collaborative Study of Congenital Malformations: ECLAMC. One healthy and one malformed control newborn infant were matched to each VATERL case. The birth prevalence rates (per 100,000 births) for VATERL were significantly lower in Venezuela (3.1) than in the other eight countries (8.8) (P < 0.001). Venezuela also had lower rates for all five VATERL defects, even after excluding the 138 VATERL cases. VATERL cases were preferentially males (male proportion 0.6261) (P < 0.02), and, when compared with healthy controls, they had a higher perinatal mortality rate (63.7%) (P < 0.005), a higher frequency of fetal losses in previous pregnancies (12.6%) (P < 0.05), and lower mean birthweights (2,361.79 +/- 809.63 g) (P < 0.005). VATERL cases showed a higher rate than matched malformed controls for prenatal exposures to drugs and physical agents (P < 0.02 and P < 0.05, respectively), although no specific pharmacological or physical group was involved. The lower birth prevalence rates found in Venezuela, for VATERL as well as for each of the five congenital anomalies involved in this association, seem to be biologically meaningful. Since we could not identify a potential risk factor, nor a common cause of underascertainment unique to the Venezuelan subsample and common to all six hospitals, no hypothesis can be advanced here for this phenomenon. Nevertheless, this unequal geographic distribution strongly suggests a common etiopathogenicity for the five congenital anomalies involved in the VATERL association.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anus Imperfurado/epidemiologia , Atresia Esofágica/epidemiologia , Rim/anormalidades , Deformidades Congênitas dos Membros/epidemiologia , Coluna Vertebral/anormalidades , Estudos de Casos e Controles , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Prevalência , Fatores de Risco , América do Sul/epidemiologia
12.
Am J Med Genet ; 27(2): 337-43, 1987 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-3605219

RESUMO

We present descriptive epidemiologic data on ambiguous genitalia (AG), obtained in the period 1967-1982 by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) through 70 participating hospitals located in 34 cities of 9 South American countries. The observed prevalence rate for isolated AG was about 1/20,000 births, with at least 1/4 and probably as much as 1/2 due to congenital adrenal hyperplasia. When AG cases associated with other congenital anomalies were also considered, the overall frequency of AG was 1/6,900 total births (1/10,000 for live and 1/350 for stillbirths). The prevalence rates were homogeneously distributed among the different countries, and there was a stable secular trend. AG was more frequent in nontropical than in tropical areas of South America, and there was a significant seasonal variation with its acrophase in August (winter). A case-control analysis of 14 risk factors showed an association of AG with a prenatal history of acute maternal illnesses. These data do not support an etiological relationship between AG and hypospadias.


Assuntos
Genitália/anormalidades , Feminino , Humanos , Recém-Nascido , Cariotipagem , Masculino , Morbidade , Fenótipo , Estações do Ano , América do Sul
13.
Am J Med Genet ; 59(2): 209-17, 1995 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-8588588

RESUMO

The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congénitas series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 +/- 6.74 years in the IPIMC, and 37.19 +/- 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 +/- 7.08 years in the IPIMC, and 36.41 +/- 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 +/- 9.25 years, but not in the IPIMC, 32.26 +/- 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area.


Assuntos
Acondroplasia/genética , Osteogênese Imperfeita/genética , Displasia Tanatofórica/genética , Acondroplasia/epidemiologia , Adulto , Ordem de Nascimento , Estudos de Casos e Controles , Feminino , Mutação em Linhagem Germinativa , Humanos , Recém-Nascido , Itália/epidemiologia , Masculino , Idade Materna , Pessoa de Meia-Idade , Mosaicismo , Osteogênese Imperfeita/epidemiologia , Idade Paterna , Gravidez , Sistema de Registros , Fatores de Risco , América do Sul/epidemiologia , Displasia Tanatofórica/epidemiologia
14.
Am J Med Genet ; 92(1): 62-8, 2000 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-10797425

RESUMO

Using a novel method for the analysis of infants with multiple malformations, we investigated the cluster of associated malformations called the OEIS (omphalocele, bladder exstrophy, imperforate anus, spine defect) complex among 5,260 infants with multiple malformations identified in four large registers of congenital malformations, corresponding to 5.84 million births. The existence of the OEIS complex was clearly demonstrated and malformations entering it could be defined. Other than the four classical malformations, omphalocele, bladder exstrophy, imperforate anus, and spine malformation, a strong association with spina bifida and intersex was stressed. Spine malformations occurred not only in the lumbosacral level but also more cranially, and an association also with upper spina bifida could be demonstrated. No specific association with any other malformation, including cardiac defects, was apparent. The OEIS complex is an unusually clearly defined entity among the various nonrandom associations which have been described.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anus Imperfurado , Extrofia Vesical , Hérnia Umbilical , Disrafismo Espinal , Anormalidades Múltiplas/classificação , Estudos de Coortes , Métodos Epidemiológicos , França/epidemiologia , Humanos , Recém-Nascido , Itália/epidemiologia , América do Sul/epidemiologia , Suécia/epidemiologia
15.
Am J Med Genet ; 4(3): 263-9, 1979.
Artigo em Inglês | MEDLINE | ID: mdl-229731

RESUMO

Pectoralis major muscle defect (PMD) was diagnosed in 27 infants from a series of 599,109 live births in South America (1/22,189). In all 27 cases the PMD was unilateral, mainly affecting the right side (20/27), and there were more male (19/27) than female cases. No familial cases and no parental consanguinity were recorded. A positive correlation was observed between PMD and sex hormone intake and vaginal bleeding in the first trimester of pregnancy. In 12 (1/49,925) of the 27 PMD cases hypoplasia and/or syndactyly of the ipsilateral hand was also diagnosed. The index-middle interdigital space was affected in all 11 cases with symbrachydactyly. Additional congenital anomalies were observed in 4/27 cases, and they were: hemangiomas, hypospadias, and clubfeet. Poland complex (12 cases), isolated PMD (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, syndactyly type, and sex ratio.


Assuntos
Músculos Peitorais/anormalidades , Sindactilia/complicações , Adulto , Brasil , Feminino , Hormônios Esteroides Gonadais/administração & dosagem , Humanos , Recém-Nascido , Masculino , Idade Paterna , Gravidez , Risco , Razão de Masculinidade , Sindactilia/embriologia , Sindactilia/epidemiologia , Síndrome
16.
Am J Med Genet ; 5(4): 357-64, 1980.
Artigo em Inglês | MEDLINE | ID: mdl-6249121

RESUMO

Syndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non-Latin-European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.


Assuntos
Frequência do Gene , Sindactilia/epidemiologia , População Negra , Brasil , Feminino , Humanos , Recém-Nascido , Masculino , Razão de Masculinidade , População Branca
17.
Am J Med Genet ; 86(1): 9-14, 1999 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-10440822

RESUMO

The birth prevalence of specific types of congenital anomalies at low and high altitudes in South America were compared after adjustment for prenatal growth, ethnicity, and socioeconomic status. The material includes all 1,668,722 consecutive births occurring in 53 hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), having registered at least 100 malformed/control pairs between 1967 and 1995. The lowland subsample (below 2,000 m above the sea level) included 46,729 case-control pairs, ascertained in 1,539,432 births from 49 hospitals in 38 cities. The highlands (above 2,000 m) comprised 3,498 case-control pairs from 129,301 births, occurring in four hospitals from three cities. Unconditional logistic regression was used to estimate the relative risks for the exposure at high altitudes, adjusted by ethnicity (Amerindian yes/no), type of health service (public/private), and birth weight (below/equal and greater than 2, 500 g). The adjusted relative risks showed significantly (P < 0.01) higher values in the high than in the lowlands for four types of defects: cleft lip [relative risks (RR): 1.57; 95% confidence interval (CI): 1.27-1.94], microtia (RR: 3.21; 95% CI: 2.35-4.79), preauricular tag (RR: 2.09; 95% CI: 1.86-2.36), branchial arch anomaly complex (RR: 1.79; 95% CI: 1.23-2.61), constriction band complex (RR: 1.92; 95% CI: 1.11-3.31), and anal atresia (RR: 1.61; 95% CI: 1.01-2.57). Conversely, lower risks in the highlands were registered for two neural tube defects: anencephaly (RR: 0.33; 95% CI: 0.20-0.54), spina bifida (RR: 0.57; 95% CI: 0.37-0.78), as well as for hydrocephaly (RR: 0.41; 95% CI: 0.22-0.77) and pes equinovarus (RR: 0.70; 95% CI: 0.51-0.96). Even though some of these differences may be caused by undetected confounders, the coincidental finding of four types of craniofacial defects with higher, and two types of neural tube defect with lower frequencies in the highlands, suggest a real biological foundation.


Assuntos
Altitude , Anormalidades Congênitas/etiologia , Peso ao Nascer , Estudos de Casos e Controles , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/genética , Etnicidade/genética , Feminino , Serviços de Saúde , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Prevalência , Fatores de Risco , Classe Social , América do Sul/epidemiologia
18.
Am J Med Genet ; 10(1): 5-19, 1981.
Artigo em Inglês | MEDLINE | ID: mdl-7197467

RESUMO

Epidemiological variables in relation to hypospadias were analyzed in a case-control study of a liveborn population from six Latin American countries. the frequency of hypospadias was 7.6 per 10,000 livebirths (324/423,839). The cases were divided into three types: distal (72%), proximal (18.5%) and non-specified cases (9.5%). The control group consisted of the first nonmalformed child born after each of the patients and was matched by sex, place, and time of birth. Other coexisting malformations were found in 13.6% of cases. The Brazilian sample showed the highest incidence rate (17.7/10,00) and also the highest incidence of severe forms (5.0/10,000) as compared with the other countries. a circannual rhythm was detected using several different statistical procedures. Low mean birth weight, twinning, vaginal bleeding, and drug exposure during the 1st trimester (particularly sex hormones) were found to be risk factors. The more severe forms had a higher neonatal mortality rate and higher inbreeding when compared with the controls or milder forms. The heritability coefficient was 0.6772 +/- 0.0675. The possible role of maternal sex hormone intake and disturbances of human chorionic gonadotropin during the first trimester are discussed.


Assuntos
Hipospadia/epidemiologia , Peso ao Nascer , Consanguinidade , Doenças em Gêmeos , Métodos Epidemiológicos , Feminino , Humanos , Hipospadia/genética , Mortalidade Infantil , Recém-Nascido , América Latina , Masculino , Periodicidade , Gravidez , Complicações na Gravidez/epidemiologia , Risco , Diferenciação Sexual
19.
Am J Med Genet ; 101(1): 26-32, 2001 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-11343333

RESUMO

This study was undertaken to find a strict, unbiased epidemiological delineation of the VATER non-random association of congenital malformations and, based on registry information, to identify a group of probable VATER association infants suitable for etiological analyses. Information on 5,260 infants with multiple malformations was collected from four large registers of congenital malformations. Data were analyzed using a statistical method in which various putative confounders were controlled for. Our results indicate the existence of a distinct group of malformations corresponding to the VATER association: esophageal atresia, anal atresia, upper preaxial limb reduction defects, and costo-vertebral malformations. A subdivision into an upper and a lower group of VATER association was indicated, with heart malformations associated with the upper group and kidney malformations associated with the lower group. Restricting the inclusion criteria for VATER association to the above mentioned core malformations, few infants seem to belong to the VATER association, thus limiting the possibilities of carrying out etiological analyses. A relatively large number of infants may belong to a family of related conditions among which VATER association is a subgroup. In the search for risk factors, a strict definition of the VATER association is needed in order to not dilute the study material with irrelevant cases. The present study provides such strict inclusion criteria.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/etiologia , Anus Imperfurado , Interpretação Estatística de Dados , Feminino , França/epidemiologia , Cardiopatias Congênitas , Humanos , Recém-Nascido , Itália/epidemiologia , Rim/anormalidades , Masculino , Sistema de Registros , América do Sul/epidemiologia , Coluna Vertebral/anormalidades , Suécia/epidemiologia , Síndrome , Fístula Traqueoesofágica
20.
Am J Med Genet ; 32(3): 298-300, 1989 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2729348

RESUMO

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.


Assuntos
Anormalidades Múltiplas , Anormalidades Múltiplas/diagnóstico , Consanguinidade , Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Feminino , Genes Recessivos , Humanos , Lactente , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Síndrome
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