| خلاصه مقاله | SOME MAIN TYPES OF SKELETAL DYSPLASIA
cleidocranial dysplasia: these patients manifest with small face, wide head with hypertelorism, generalized joint laxity ,and also partial or complete absence of the clavicle .syndrome usually evident at birth and may be detected prenatally.
osteogenesis imperfecta: disorders of collagen synthesis that result in abnormal bone formation that are easily fractured. presentation include osteoporosis, and wormian bones and basilar invagination with brain stem compression.
based on relative bone fragility, bone deformity, stature, blue sclerae, dentinogenesis imperfecta, hearting loss and based on inheritance patern, sillence classification is done for this syndrome.
sclerosing bone dysplasia: a varied group of conditions that have common various patterns of increased bone density.
caffey disease: present with exuberant periosteal new bone in infants (especially around the mandible).
osteopetrosis: diminished osteocalstic function, and present with diffusely very dense but brittle bones and bone within bone appearance and sandwitch appearance is from its presentation.
pyknodysostosis: manifest as a short limbed dwarfism with diffuse osteosclerosis, frequent transverse fracture and also acroosteolysis.
progressive diaphyseal dysplasia: symmetric endosteal and periosteal cortical thickening and expansion of long bone diaphises, especially in the legs, notice that epiphysis are spared.
osteopolikilosis: present with multiple bone islands, clustered around joints.
in differentiation from blastic metastasis, metastases tend to spare the epiphysis ,whereas the bone islands of osteopoilkilosis are most densly concentrated in the epiphises.
melorhestosis; dense bone is deposited along of the otherwise normal bones and has dripping candle wax pattern, although life expectancy is not shortened in patients with melorhestosis , significant morbidity can occur, especially when the condition is present in childhood. |