Orioli I M, Castilla E E, Barbosa-Neto J G
J Med Genet. 1986 Aug;23(4):328-32. doi: 10.1136/jmg.23.4.328.
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.
本研究旨在确定围产期可识别的骨骼发育异常在出生时的患病率。利用拉丁美洲先天性畸形协作研究（ECLAMC）1978年至1983年期间349470例出生（活产和死产）的数据库，观察到粗患病率为2.3/10000。然而，一些登记不足的迹象表明，实际值约为观察值的两倍。最常见的骨骼发育异常类型是软骨发育不全，患病率在0.5至1.5/10000例出生之间，致死性发育异常/软骨发育不全组（0.2至0.5/10000例出生），以及成骨不全（0.4/10000例出生）。常染色体显性软骨发育不全的突变率估计为每代每个配子1.72至5.57×10⁻⁵。
