Kulkarni M L, Samuel K, Bhagyavathi M, Sureshkumar C
Department of Pediatrics, J.J.M. Medical College, Karnataka.
Indian Pediatr. 1995 Jun;32(6):657-65.
A hospital based study of skeletal dysplasias was conducted over a period of 2 years in Davangere, Karnataka, in which 169 cases of skeletal dysplasias were studied. One hundred were osteochondrodysplasias and were grouped according to international classification of osteochondrodysplasias. Among the individual cases, osteogenesis imperfecta (13 cases) had the maximum representation. Several cases of rare disorders were also identified. Eighty eight cases of skeletal dysplasias were in the pediatric age group and of these 41 were newborns. The incidence of skeletal dysplasia among newborns was 19.6 per 10,000 deliveries and lethal dysplasias 5.2 per 10,000 deliveries. In 7 cases of skeletal dysplasia, an antenatal diagnosis was possible by ultrasonography.
在卡纳塔克邦达万盖雷进行了一项为期两年的基于医院的骨骼发育异常研究，共研究了169例骨骼发育异常病例。其中100例为骨软骨发育不良，并根据国际骨软骨发育不良分类进行分组。在个别病例中，成骨不全（13例）占比最大。还发现了几例罕见疾病。88例骨骼发育异常病例属于儿童年龄组，其中41例为新生儿。新生儿中骨骼发育异常的发病率为每10000例分娩19.6例，致死性发育异常为每10000例分娩5.2例。在7例骨骼发育异常病例中，通过超声检查有可能进行产前诊断。
