Maria da Graça Dutra

Fundação Oswaldo Cruz

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Eduardo E. Castilla

Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno

Jorge S. López‐Camelo

Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno

Iêda M. Orioli

Universidade Federal do Rio de Janeiro

Pierpaolo Mastroiacovo

Università Cattolica del Sacro Cuore

Gioacchino Scarano

Azienda Ospedaliera G.Rummo

Guido Cocchi

Policlinico S.Orsola-Malpighi

Mónica Rittler

Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno

Osvaldo M. Mutchinick

Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

Marian K. Bakker

Utrecht University

María‐Luisa Martínez‐Frías

Universidad Complutense de Madrid

Cooperative Institutions

Weatherford College

Indianapolis Zoo

Triangle

National Center on Birth Defects and Developmental Disabilities

National Institute on Population Medical Genetics

John Wiley & Sons (United States)

Universidade Federal do Rio de Janeiro

Ben-Gurion University of the Negev

Consejo Nacional de Investigaciones Científicas y Técnicas

Western Cape Department of Health

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Clinical epidemiology of skeletal dysplasias in South America

American Journal of Medical Genetics Part A (2012)

Cecília O. Barbosa‐Buck Iêda M. Orioli Maria da Graça Dutra Jorge S. López‐Camelo Eduardo E. Castilla

Abstract Currently accepted birth prevalence for osteochondrodysplasias (OCD) of about 2/10,000 is based on few studies from small series of cases. We conducted a study based on more than 1.5 million births. OCD cases were detected from 1,544,496 births occurring and examined in 132 hospitals of ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 2000 and 2007. Cases were detected and registered according to a pre‐established protocol, and then ranked in four diagnostic evidence levels (DEL), according to available documentation. For the analysis of risk factors, a healthy control sample born in the same period was used. OCD was diagnosed in 492 newborns, resulting in a prevalence per 10,000 of 3.2 (95% CI: 2.9–3.5). Perinatal lethality (stillbirths plus early neonatal deaths) occurred in 50% of cases. Prenatal ultrasound diagnosis was made in 73% of cases (n = 359). Among 211 cases from the best documented group (DEL‐1) and according to international classification, 33% of cases fit into the G‐25 (osteogenesis imperfecta), 29% in Group‐1 ( FGFR3 ), and 8% in Group‐18 (Bent bones). The prevalence of the main OCD types were: OI—0.74 (0.61–0.89); thanatophoric dysplasia—0.47 (0.36–0.59); and achondroplasia—0.44 (0.33–0.55). Paternal age (31.2 ± 8.5), parity (2.6), and parental consanguinity rate (5.4%) were higher in cases than in controls ( P < 0.001). In conclusion, the OCD overall prevalence of 3.2 per 10,000 found seems to be more realistic than previous estimates. This study also confirmed the high perinatal mortality, and the association with high paternal age, parity, and parental consanguinity rate. © 2012 Wiley Periodicals, Inc.

Achondroplasia

Congenital malformations

10.1002/ajmg.a.35246

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Citations (87)

Farms characterization for the risk of the foot-and-mouth virus introduction in Rio Grande do Sul cattle.

Veterinaria em foco (2007)

Maria da Graça Dutra Diego Viali dos Santos

Foot (prosody)

Source

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Citations (1)

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

The Cleft Palate-Craniofacial Journal (2008)

Mónica Rittler Jorge S. López‐Camelo Eduardo E. Castilla Eva Bermejo Guido Cocchi

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.

10.1597/06-250.1

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Citations (58)

Awareness of the Benefit of Periconceptional Folic Acid Supplementation in South America

Public Health Genomics (2000)

Eduardo E. Castilla Maria da Graça Dutra Jorge S. López‐Camelo Mónica Rittler Iêda M. Orioli

Awareness of the benefit of periconceptional supplementation with folic acid was surveyed in 2,810 postpartum women by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) during 1996. While 48.8% of the women claimed to know that some vitamins were good for the baby in gestation, only 0.5% mentioned folic acid. Although 13.9% of the women declared to know about the beneficial role of folic acid, only 2.2% were able to mention a correct list of foods rich in folic acid. Women delivering in private (n = 1,065) hospitals had taken vitamins, including folic acid, and had heard about its beneficial role more frequently than those within the public system (n = 1,745). Nevertheless, the public series had a larger proportion of vitamin users who started taking vitamins during the first month of gestation. Women aged 20–34 years rated better than both age extremes in stating they had taken vitamins, in actually having taken vitamins, and in having taken vitamins including folic acid. There was no significant difference between age groups, as to the time of pregnancy when vitamins were started, nor to the women`s knowledge about beneficial vitamins. Adolescent women had the lowest awareness rate concerning folic acid (11%), when compared with the two older groups (15%). Based on these results, staple food fortification seems to be the recommended strategy for the prevention of birth defects in South America.

Food fortification

B vitamins

10.1159/000051107

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Citations (8)

Epidemiological analysis of rare polydactylies

American Journal of Medical Genetics (1996)

Eduardo E. Castilla Regina Lugarinho da Fonseca Maria da Graça Dutra Eva Bermejo Lourdes Cuevas

This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth series: the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (3,128,957 live and still births from the 1967 to 1993 period), and the Spanish Collaborative Study of Congenital Malformations: ECEMC (1,093,865 livebirths from April 1976 to September 1993, and 7,271 stillbirths from January 1980 to September 1993). All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 pre-established polydactyly types (observed number of cases in parentheses): Postaxial hexadactyly (5,345), Preaxial-I hexadactyly (1,018), Seven or more digits (57), synpolydactyly (15), crossed polydactyly (45), 1st digit triphalangism (33), 2nd digit duplication (39), 3rd digit duplication (18), 4th digit duplication (22), Haas polysyndactyly (3), and high degree of duplication (4). The birth prevalence rates observed in both series were similar except for postaxial polydactyly, which was more frequent in the ECLAMC (150.2/100,000) than in the ECEMC (67.4/100,000), as expected due to the higher African Black ethnic extraction of the South-American than of the Spanish populations. This similar frequency for the rare polydactylies (5.4 per 100,000 in South America and 5.7 in Spain), and for each one of the 9 categories, suggests that the values reported here are valid for most populations. The rare polydactylies are frequently syndromal: one third of them (77/236) were found in association with other congenital anomalies, 11.0% (26/236) in MCA cases and 21.6% (51/236) in recognized syndromes. © 1996 Wiley-Liss, Inc.

10.1002/(sici)1096-8628(19961111)65:4<295::aid-ajmg10>3.0.co;2-p

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Citations (54)

Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research

American Journal of Medical Genetics Part C Seminars in Medical Genetics (2011)

Osvaldo M. Mutchinick Leonora Luna‐Muñoz Emmanuelle Amar Marian K. Bakker Maurizio Clementi

Abstract 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. © 2011 Wiley Periodicals, Inc.

Etiology

10.1002/ajmg.c.30321

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Citations (193)

Folate awareness among South American women

The Lancet (1997)

Eduardo E. Castilla Maria da Graça Dutra

10.1016/s0140-6736(05)60180-8

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Citations (13)

Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies

British Journal of Dermatology (1981)

Eduardo E. Castilla Maria da Graça Dutra IEDA M. ORIOLI-PARREIRAS

Pigmented naevi (PN) were clinically diagnosed in 1083 newborn infants from a series of 531,831 consecutive livebirths examined in fifty-nine hospitals in South America. Isolated PN (IPN) were seen in 989 (0.2%) non-malformed infants, while PN associated with other congenital anomalies (APN) were observed in ninety-four (1.0%) malformed babies. Incidence rates calculated from the fifty-nine hospitals were very variable due to under-reporting, which might have been as high as 80%. The PN were classified by their location, number, size, texture, and colour. Observed locations were compared with random expected distributions based on the surface proportions of the newborn. IPN were preferentially found on the chest and abdomen, with a low concentration on the head and upper limbs. No examples were observed on soles or palms. IPN were single in 90% of cases. Size was small (1–9 mm) in 29%, medium (10–;40 mm) in 63%, and large (over 40 mm) in 8% of cases. Abnormal texture, (rugose, raised, and/or hairy) was found in 7–11% of IPN. Colour was brown in 68%, black in 21%, and of other colours in 11%. The large IPN tended to be multiple in number and abnormal in texture. Small IPN tended to be black. IPN on the chest and abdomen were more frequently small, non-black, and of normal texture; those found on the back tended to be black and abnormal in texture; black IPN were also frequent on the upper limbs; large IPN frequently affected the lower limbs. The APN did not differ from the IPN in their number, size, texture, or colour. APN were less common than expected on the back and upper limbs. An association was observed between the PN and the following four congenital anomalies: ear deformities, preauricular appendages, angiomas, and other skin anomalies. The differences in distribution of PN in the newborn infant and that in the adult that have been previously published suggest that most of the PN found in the adult are not congenital.

Texture (cosmology)

10.1111/j.1365-2133.1981.tb00954.x

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Citations (357)

Surveillance of adverse fetal effects of medications (SAFE-Med): Findings from the International Clearinghouse of Birth Defects Surveillance and Research

Reproductive Toxicology (2010)

Alessandra Lisi Lorenzo D. Botto Elisabeth Robert‐Gnansia Eduardo E. Castilla Marian K. Bakker

Odds

10.1016/j.reprotox.2010.03.005

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Citations (41)

Preferential Associated Anomalies in 818 Cases of Microtia in South America

American Journal of Medical Genetics Part A (2013)

Daniela V. Luquetti Timothy C. Cox Jorge S. López‐Camelo Maria da Graça Dutra Michael L. Cunningham

Abstract The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)‐ and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non‐related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia. © 2013 Wiley Periodicals, Inc.

Microtia

10.1002/ajmg.a.35888

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Citations (29)