TY - JOUR T1 - The birth prevalence rates for the skeletal dysplasias. JF - Journal of Medical Genetics JO - J Med Genet SP - 328 LP - 332 DO - 10.1136/jmg.23.4.328 VL - 23 IS - 4 AU - I M Orioli AU - E E Castilla AU - J G Barbosa-Neto Y1 - 1986/08/01 UR - http://jmg.bmj.com/content/23/4/328.abstract N2 - 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. ER -