Bone dysplasias in 1.6 million births in Argentina

Duarte, Santiago; Rocha, María Eugenia; Bidondo, María Paz; Liascovich, Rosa; Barbero, Pablo; Groisman, Boris

doi:10.1016/j.ejmg.2018.12.008

Cited by 13 publications

(12 citation statements)

References 13 publications

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“…The most frequent SD were Ach, TD and OI with a prevalence of 0.5, 0.3 and 0.2 per 10,000 live births, respectively (Mellado, Pardo, Velozo, unpublished data). These prevalence rates are lower compared to those previously reported for Latin America (Barbosa-Buck et al, 2012;Duarte et al, 2019), but they could be underestimated, probably because the registry only considers live births from birth to discharge from the hospital, and might have not included those cases with milder or less typical clinical manifestations.…”

Section: Sd In Chilecontrasting

confidence: 66%

Skeletal dysplasias in Latin America

Cavalcanti

Fano

Mellado

et al. 2020

American J of Med Genetics Pt C

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Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.

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Section: Sd In Chilecontrasting

confidence: 66%

Skeletal dysplasias in Latin America

Cavalcanti

Fano

Mellado

et al. 2020

American J of Med Genetics Pt C

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“…While the estimates for North Africa and the Middle East, and for Sub-Saharan Africa may reflect the genuine birth prevalence, they should be interpreted in the context of these limitations. However, achondroplasia birth prevalence has been linked to race, ethnicity, and social factors (Orioli et al, 1995;Waller et al, 2008;Wilkin et al, 1998), such as advanced paternal age (Duarte et al, 2018). Also, there is growing (though inconclusive) evidence that higher incidences of congenital abnormalities can be due to prenatal exposure to environmental pollution (e.g., air-and water-pollution as a result of urbanization and industrialization; Dolk & Vrijheid, 2003;Vrijheid et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Foreman

Kessel²,

Hoorn³

et al. 2020

American J of Med Genetics Pt A

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Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta‐analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer‐reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta‐analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta‐analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I2 of 84.3) was present and some indication of publication bias was detected, based on visual asymmetry of the Doi plot with a Furuya‐Kanamori index of 2.73. Analysis of pooled data from the current literature yields a worldwide achondroplasia birth prevalence of approximately 4.6 per 100,000, with considerable regional variation. Careful interpretation of these findings is advised as included studies are of broadly varying methodological quality.

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“…Limitations to this study include the report period is until hospital discharge without a systematic follow‐up; absence of a screening protocol for syndromic features; and heterogeneity in the access to genetic testing and evaluation by a clinical geneticist (Duarte et al, ). These factors may explain the low proportion of syndromic LRD, and the high proportion of patients with associated CA (39.2%) when comparing to the literature (20–30%) (Bedard et al, ).…”

Section: Discussionmentioning

confidence: 99%

Congenital limb reduction defects in 1.6 million births in Argentina

Alberto¹,

Barbero

Liascovich

et al. 2020

American J of Med Genetics Pt A

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The objectives of this study were to describe the birth prevalence of limb reduction defects (LRD) in Argentina, their clinical features, and to review the literature on this topic. The data source was the National Network of Congenital Anomalies of Argentina, a surveillance system that has been operative since 2009. Data were collected from November 1, 2009 to December 31, 2016. 1,663,610 births and 702 affected patients were registered during this period. The prevalence of LRD was 4.22/10,000 births (CI 95%: 3.93-4.54). In 15,094 stillbirths, prevalence was 30.80/10,000 (CI 95%: 22.31-40.65). Perinatal mortality (stillbirths plus early neonatal deaths) was 24.6%, mostly explained by postnatal deaths. LRD were classified according to different variables, including Gold's anatomic classification. Then, 41.0% of patients had transverse terminal defects and 50.2% had longitudinal defects. We found multiple and syndromic clinical presentation to be associated with both preaxial LRD and lethality. The prevalence of LRD was lower and perinatal mortality was higher in our study compared to that of previously published studies. Because there is heterogeneity in the inclusion and exclusion criteria among publications, a greater effort should be made in order to include similar populations and to use a unified anatomic classification and nomenclature.

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Bone dysplasias in 1.6 million births in Argentina

Cited by 13 publications

References 13 publications

Skeletal dysplasias in Latin America

Skeletal dysplasias in Latin America

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Congenital limb reduction defects in 1.6 million births in Argentina

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