ABSTRACT
Three brothers 9, 12, and 14 years of age were studied. The three of them fulfilled the diagnostic criteria of Marfan Syndrome that was made based on physical and ophthalmologic examination, these criteria included musculoskeletal abnormalities, subluxation of lens, myopia and aortic aneurysm. The three siblings died due to complications of the aortic aneurysm, which had an early onset as well as the other clinical manifestations of the disease. They were 2 brothers and one sister. There was neither mental or psychomotor retardation, nor metabolic disease in any of the patients. Family history did not show any clinical manifestation of the disease in parents or grandparents. We propose that the hereditary pattern is recessive autosomic instead of dominant autosomic given the features of these cases and their history.
Subject(s)
Marfan Syndrome/genetics , Child , Child, Preschool , Female , Humans , Male , PedigreeABSTRACT
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.
Subject(s)
Bone Diseases, Developmental/epidemiology , Cross-Sectional Studies , Hospitals , Humans , Infant, Newborn , VenezuelaABSTRACT
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.
Subject(s)
Congenital Abnormalities/epidemiology , Female , Hospitals , Humans , Infant, Newborn , Male , Venezuela/epidemiologyABSTRACT
We present a newborn baby with a diagnosis of neonatal severe primary hyperparathyroidism, based on the concomitant presence of hypercalcemia, hypophosphatemia and elevated values of parathormone. A national and international review on the subject is made and the differential diagnosis of this rare entity is discussed.
Subject(s)
Hyperparathyroidism/congenital , Diagnosis, Differential , Humans , Hypercalcemia/congenital , Hypercalcemia/etiology , Hyperparathyroidism/complications , Hyperparathyroidism/diagnosis , Infant, Newborn , Male , Muscle Hypotonia/congenital , Muscle Hypotonia/diagnosis , Muscle Hypotonia/etiology , Parathyroid Hormone/bloodABSTRACT
Data from a program aiming to the detection of inborn errors of the erythrocyte metabolism (IEEM) in Northwestern Mexican populations are presented. 5,998 individuals were studied and divided in 5 groups: a) 1,022 full-term newborns without jaundice; b) 872 randomly selected full-term newborns; c) 3,243 full-term newborns with jaundice; d) 54 patients with hemolytic anemia, and e) 807 professional blood donors. In groups b, c and d screening for 9 out of 14 IEEM clearly associated with hemolysis was carried out by means of enzymatic fluorescent procedures. In groups a and e only G-6-PD deficiency was investigated. The results suggest that 0.34%, 0.77%, 24% and 0.37% of the individuals from groups b, c, d and e, respectively, have an IEEM. The frequency of G-6-PD deficiency was 0, 0.43%, 1.1%, 30.3% and 0.37% in the males from groups a, b, c, d and e, respectively. The IEEM as a cause of neonatal jaundice seem not to be a public health problem in the studied populations. Systematic screening for: 1) G-6-PD deficiency in newborns with jaundice and 2) IEEM in patients with hemolysis, is recommended.