Subject(s)
Abnormalities, Multiple , Connective Tissue Diseases , Abnormalities, Multiple/genetics , Abnormalities, Multiple/prevention & control , Adult , Child , Child, Preschool , Connective Tissue Diseases/genetics , Diagnosis, Differential , Ectopia Lentis/genetics , Female , Foot Deformities, Congenital/genetics , Growth Disorders/genetics , Hand Deformities, Congenital/genetics , Humans , India , Male , Middle Aged , SyndromeABSTRACT
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.
Subject(s)
Bone Diseases, Developmental/epidemiology , Growth Disorders/epidemiology , Bone Diseases, Developmental/congenital , Bone Diseases, Developmental/diagnostic imaging , Female , Growth Disorders/congenital , Growth Disorders/diagnostic imaging , Humans , Incidence , India/epidemiology , Infant, Newborn , Male , Osteochondrodysplasias/epidemiology , Pregnancy , Prevalence , Ultrasonography, PrenatalSubject(s)
Cleft Lip/pathology , Cleft Palate/pathology , Lip/abnormalities , Child, Preschool , Female , Humans , SyndromeABSTRACT
Russell-Silver syndrome, a syndrome of unknown etiology, is characterized by short stature of prenatal onset, triangular facies, asymmetry, variations in the pattern of sexual development, and other abnormalities, such as cafe-au-lait pigmentation, clinodactyly, and dental and oral abnormalities. We report three cases of Russell-Silver syndrome, all of which had dental anomalies. The clinical features of the syndrome are discussed.