Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is l...

Many inherited abnormalities of collagen are likely and may be listed under the following headings as proved, probable, or possible. Proved Ehlers-Danlos syndrome (EDS) (types III, IV, V, VI, VII); osteogenesis imperfecta (broadboned type); thanatophoric dwarfism; dermatosparaxis (animal equivalent of EDS VII); blotchy mice (animal equivalent of EDS V). Probable Marfan syndrome; pseudoxanthoma ...

Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with genetic etiology. The current classification skeletal distinguishes 461 diseases in 42 groups. incidence all is more than 1 every 5000 newborns. type dysplasia associated abnormalities affect the lethality, survival long-term prognosis dysplasias. It crucial to distinguish correctly diagnose disease es...