POSTER ABSTRACT
IRIA 2014
CASE SERIES OF SKELETAL
DYSPLASIAS
DR.M.MANI BHARATHI, II Year POSTGRADUATE, M.D.RADIODAIAGNOSIS,
INTRODUCTION
• Skeletal dysplasias are disorders of development of
bone caused by widespread disturbance of bone
growth, beginning during the early stages of fetal
development and evolving throughout life. There are
more than 400 disorders and are difficult to diagnose
correctly. History, clinical examination, radiological and
biochemical investigations all aid in the correct
diagnosis. Complete skeletal survey should be done
and observed for relative length of the long bones, size,
shape, proportions of each bone and mineralization
pattern of the metaphysis, physis, and epiphysis in light
of the patient's age and overall size
METHODS AND MATERIALS
• 13 patients were referred to Department of
Radio-diagnosis,SRM MC &RI with clinical
features pertaining to skeletal abnormalities
from the period of NOV 2013 - OCT 2014. All
the cases were evaluated and followed up.
RESULTS
• Various Skeletal dysplasias were found - 4 cases
of Pyknodysostosis, 1 case of Morquio`s
syndrome, 1 case of Hurler`s syndrome, 1case of
Achondroplasia, 1case of Spondylo-metaepiphyseal dysplasia, 1 case of Cleidocranial
Dysostosis, 1 case of Pachydermoperiostosis, 1
case of Osteopetrosis, 1 case of Apert`s
Syndrome and 1 case of Osteogenesis imperfecta.
Highest incidence was found in 11- 20 years age
group with male preponderance ( 2:1).
CONCLUSION
• Although skeletal dysplasias occur
infrequently, the recognition of these
disorders is important both for the patient and
for genetic counseling. The radiologist plays a
major role in making an accurate diagnosis;
however, representatives of other disciplines,
including clinicians, molecular biologists, and
pathologists, can also provide important
diagnostic information.