Abstract
Background: Skeletal dysplasia and osteochondrodysplasia refer to a genetically and clinically heterogeneous group of disorders of skeletal development and growth. Their prevalence is about 1 in 4000 births. Skeletal dysplasia is prevalent worldwide and its prevalence varies in different parts of the world and even in the same country varies from region to region. The objective is to study the prevalence of skeletal dysplasia based on clinico-radiological features. Subjects and Methods: A hospital retro prospective based study of skeletal dysplasia’s was conducted over a period of 2 years in which 100 cases of skeletal dysplasia’s were studied and were grouped according to international classification of osteochondrodysplasia’ s revised in 2006. Results: 100 cases of skeletal dysplasia’s were detected by various modes of examination like clinical, radiological (radiographs, USG, CT scan, MRI, echocardiography), genetic and biochemical tests. Among 100 cases 22 cases showed clinico-radiologically concordance, 45 cases showed clinico-radiological complement and 40 cases showed clinico-radiological discordance. Conclusion: Our study makes an important observation that only clinical evaluation detected only 20% of skeletal dysplasia’s; and hence the importance of clinic-radiological evaluation in the proper diagnosis of skeletal dysplasia’s.
Highlights
Dysplasia is a developmental abnormality; in the pathology, size, shape and organization of adult cells. [1] Osteochondrodysplasia s are a broad category of heterogeneous disorders comprising of bone or cartilage abnormalities or structure
Few dysplasia’s become fatal at perinatal level. They arise in non-lethal dysplasia with extreme small height or inability to attain longitudinal development or certain physical deformities in the early childhood
Dysplasia may be accurately identified based on the combination of clinical and family history, physical assessment, radiological evaluation and molecular and biochemical testing
Summary
Dysplasia is a developmental abnormality; in the pathology, size, shape and organization of adult cells. [1] Osteochondrodysplasia s are a broad category of heterogeneous disorders comprising of bone or cartilage abnormalities or structure. Skeletal dysplasia varies from dysostoses that include malformations of single or several bones attributable to pathological in-utero blastogenesis and remain unchanged throughout the lifespan phenotypically. Few dysplasia’s become fatal at perinatal level. They arise in non-lethal dysplasia with extreme small height or inability to attain longitudinal development or certain physical deformities in the early childhood. Dysplasia may be accurately identified based on the combination of clinical and family history, physical assessment, radiological evaluation and molecular and biochemical testing. While certain dysplasia’s can quickly be identified on the basis of some features or what are regarded as textbook results, a careful approach to diagnostics is important. We discuss the radiological method for the diagnosis of nonlethal dysplasia and identify the radiological features of many significant and more severe non-lethal dysplasia’s afterwards
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