Comprehensive Skeletal Dysplasias and Disorders Panel Plus
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منابع مشابه
A new concept of skeletal dysplasias.
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth and malformations of bone and cartilage. The clinical severity ranges from mildly affected short stature to lethal forms. Spranger classified approximately 200 different skeletal dysplasias in 1992, based on the clinical and radiographic features and the mode of genetic transmission. Etiopathogen...
متن کاملSkeletal 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 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 کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
متن کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
متن کامل