Skeletal Dysplasias in the Newborn: Diagnostic Evaluation and Developmental Genetics
نویسنده
چکیده
منابع مشابه
Skeletal dysplasias in a hospital in southern India.
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 ca...
متن کاملSpondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.
متن کاملMorphogenetic and regulatory mechanisms during developmental chondrogenesis: new paradigms for cartilage tissue engineering.
Cartilage is the first skeletal tissue to be formed during embryogenesis leading to the creation of all mature cartilages and bones, with the exception of the flat bones in the skull. Therefore, errors occurring during the process of chondrogenesis, the formation of cartilage, often lead to severe skeletal malformations such as dysplasias. There are hundreds of skeletal dysplasias, and the mole...
متن کاملDiagnostic Accuracy of Paediatric Skull Radiograph Versus Whole Skeletal Survey in Skeletal Dysplasias And Dysostoses in High Risk Groups
The objective of this study was to evaluate the diagnostic value of skull radiograph alone in young children in screening of skeletal dysplasias and dysostoses in comparison with whole skeletal survey. It is a retrospective study which includes 1000 high risk children who undergone whole skeletal survey. 20 patients were diagnosed as dysplasia/dysostoses out of which 18 patients had skull abnor...
متن کاملA Review of the Principles of Radiological Assessment of Skeletal Dysplasias
There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent...
متن کامل