Sujet(s)
Malformations multiples/génétique , Adulte , Enfant , Enfant d'âge préscolaire , Maladies du tissu conjonctif/génétique , Diagnostic différentiel , Ectopie du cristallin/génétique , Femelle , Anomalies morphologiques congénitales du pied/génétique , Troubles de la croissance/génétique , Anomalies morphologiques congénitales de la main/génétique , Humains , Inde , Mâle , Adulte d'âge moyen , SyndromeRÉSUMÉ
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.