Subject(s)
Fetal Growth Retardation/classification , Fetal Growth Retardation/etiology , Growth Disorders/congenital , Growth Disorders/diagnosis , Growth Disorders/genetics , Growth Hormone , Human Growth Hormone/deficiency , Human Growth Hormone/pharmacology , Insulin-Like Growth Factor Binding Protein 1/pharmacology , /pharmacology , Receptors, Somatotropin , Hypothalamo-Hypophyseal System/growth & development , Somatomedins/deficiency , Gonadal Steroid Hormones , Thyroid Hormones , Molecular BiologyABSTRACT
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/congenital , Female , Growth Disorders/congenital , Humans , Incidence , India/epidemiology , Infant, Newborn , Male , Osteochondrodysplasias/epidemiology , Pregnancy , Prevalence , Ultrasonography, PrenatalABSTRACT
O presente trabalho relata as condiçöes físicas e sistêmicas de um paciente portador da Síndrome de Seckel. Analisa os dados gerais e bucais do mesmo incluindo dentes e gengiva. Esta condiçäo desnutricional gera o aparecimento facial semelhante a uma águia ou pássaro. No presente caso, a problemática periodontal näo é täo intensa. Modificaçöes dentais podem ser detectadas. Pequena altura, aspecto franzino e estrutura corporal deficientes säo as anotaçöes verificadas neste paciente
Subject(s)
Humans , Female , Child, Preschool , Nutritional Sciences , Oral Manifestations , Syndrome , White People , Growth Disorders/congenital , Growth Disorders/diagnosis , Nutritional SciencesABSTRACT
Se presentan dos casos, uno de hemihipertrofia corporal asociado a enfermedad de Thiemann y el otro una hemihipertrofia facial. Se revisa la literatura de hemihipertrofia de la enfermedad de Thiemann. Destacamos la importancia del primer caso, por que creemos que es el primero en la literatura mundial