Work

The birth prevalence rates for the skeletal dysplasias.

Year: 1986

Type: article

Abstract: This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed. However, several indications of under-registration suggest that the real value is about twice that observed. The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence rate between 0.5 and 1.5/10 000 births, the thanatophoric dysplasia/achondrogenesis group (0.2 and 0.5/10 000 births), and osteogenesis imperfecta (0.4/10 000 births). The mutation rate for autosomal dominant achondroplasia was estimated at between 1.72 and 5.57 X 10(-5) per gamete per generation.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.23.4.328

Authors: I M Orioli, E E Castilla, J G Barbosa-Neto

Institutions: Universidade Federal do Rio de Janeiro, Hospital Federal dos Servidores do Estado, Instituto Multidisciplinario de Biología Celular

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Consejo Nacional de Investigaciones Científicas y Técnicas, Conselho Nacional de Desenvolvimento Científico e Tecnológico