[Prevalence of bone dysplasias in newborns at the Ruíz y Páez Hospital in Bolívar City. Venezuela. 1978-1990]. / Prevalencia de displasias esqueléticas en recién nacidos en el Hospital Ruíz y Páez de Ciudad Bolívar. Venezuela. Período 1978-1990.

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.

[Epidemiology of congenital malformations at the Ruiz and Páez Hospital of Bolívar City: a 10 years' experience]. / Epidemiología de malformaciones congénitas en el Hospital Ruiz y Páez de Ciudad Bolívar: una experiencia de 10 años.

From April 1978 to December 1988, we have studied the frequency of congenital malformations in newborns at the Ruiz y Páez University Hospital of Ciudad Bolivar. In that period 58,901 live births were observed, 1,821 of them presented at least one congenital malformation for a frequency of 30.9/1000. From January 1980 to December 1988, the number of stillbirths was 1097 with 44 of them congenitally malformed for a frequency of 40.1/1,000. Based on the data obtained, we consider that congenital malformations are a major public health problem that deserves national public programs to provide rational approaches to this situation. The frequency of each malformation and the characteristics of the control population are described. Some disadvantages of this type of investigation are considered, however, the need for other similar studies is emphasized in order to obtain a better understanding of the national status of the problem.