SKELETAL DYSPLASIAS -
group of conditions in which skeleton is abnormally formed during development.
Thus, essentially all bones of skeleton are affected.
( when only a group of bones is affected.. the term SKELETAL DYSOSTOSIS is used)
Most of these people have \'short stature\'.
SKELETAL DYSPLASIAS is a vast group of discrete disorders.
To familiarise,... here are some of disorders which fall under this group -
Achondroplasia.
Cleidocranial dysplasia.
Craniosynostosis.
Epiphyseal dysplasias (includes marfans, infantile cortical hyperostosis, holt-oram syndr,nail patella syndr,etc etc).
Osteopenic dysplasias (ehler danlos syndr).
Sclerosing dysplasias (includes osteopetrosis, osteopoikilosis, diaphyseal dysplasia, pyknodysostosis, etc etc).
Mucopolysaccharidoses.
Most of these people have \'short stature\'.
SKELETAL DYSPLASIAS is a vast group of discrete disorders.
To familiarise,... here are some of disorders which fall under this group -
Achondroplasia.
Cleidocranial dysplasia.
Craniosynostosis.
Epiphyseal dysplasias (includes marfans, infantile cortical hyperostosis, holt-oram syndr,nail patella syndr,etc etc).
Osteopenic dysplasias (ehler danlos syndr).
Sclerosing dysplasias (includes osteopetrosis, osteopoikilosis, diaphyseal dysplasia, pyknodysostosis, etc etc).
Mucopolysaccharidoses.
Most common among these is ACHONDROPLASIA, while potentially most lethal is OSTEOGENESIS
IMPERFECTA.
DIAPHYSEAL DYSPLASIA ( this case )
-cortical thickening and sclerosis of long bones.skull may be involved.
-symmetric affection
-involving only the diaphysis ( metaphysis and epiphysis spared )
-long bones affected. pelvic, carpal and tarsal bones spared.
-progressive, though slow. (hence, may cause raised intracranial pressure and encroachment on cranial nerves with time)
MUCOPOLYSACCHARIDOSES
Here too, there may be widening of long bones and calcarial thickening, however, there are other pathognomic features which ought to be there for diagnosis.
IMPERFECTA.
DIAPHYSEAL DYSPLASIA ( this case )
-cortical thickening and sclerosis of long bones.skull may be involved.
-symmetric affection
-involving only the diaphysis ( metaphysis and epiphysis spared )
-long bones affected. pelvic, carpal and tarsal bones spared.
-progressive, though slow. (hence, may cause raised intracranial pressure and encroachment on cranial nerves with time)
MUCOPOLYSACCHARIDOSES
Here too, there may be widening of long bones and calcarial thickening, however, there are other pathognomic features which ought to be there for diagnosis.
HYPOTHYROIDISM.
cortical thickening and shortening of long bones and relative macrocephaly may occur, Other features differentiates it.
recommended link for \'SKELETAL DYSPLASIAS\' - http://www.rad.washington.edu/mskbook/dysplasia.html