title: The birth prevalence rates for the skeletal dysplasias.
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.
mesh_terms: D000130:Achondroplasia / Q000453:epidemiology* / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000453:epidemiology* / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000453:epidemiology / Q000235:genetics; D013020:South America; D013796:Thanatophoric Dysplasia / Q000453:epidemiology / Q000235:genetics