[Prevalence of bone dysplasias in newborns at the Ruíz y Páez Hospital in Bolívar City. Venezuela. 1978-1990].

Abstract

A congenital malformations surveillance program in effect at the Ruiz y Páez Hospital in Ciudad Bolívar since April 1978, has allowed us to detect 25 patients with osteochondrodysplasias (OCD) in a total of 70,152 newborns, up to August 1990, for a prevalence of one case of OCD every 2,806 newborns. The clinical entities found were: Achondroplasia, Thanatophoric Dysplasia, Osteogenesis Imperfecta II-A, Camptomelic Dysplasia, Kniest Dysplasia, Conradi-Hunnerman syndrome, Parenti-Fracaro type Achondrogenesis and Jeune Asphyxiating Thoracic Dysplasia. The results presented in this paper indicate that this type of diseases represent a relatively important group of nosological entities adding up to more than 200 new annual cases in the country. This relatively high frequency, the different inheritance mechanisms involved, the variable complications and the high morbidity and mortality rate of these diseases, make the patients affected, a problematic group not receiving, in general, adequate medical attention regarding diagnosis, genetic counselling and treatment.