Document Detail

Evaluation of newborns with skeletal dysplasias.
MedLine Citation:
PMID:  11262990     Owner:  NLM     Status:  MEDLINE    
Skeletal dysplasia are a relatively common and distinct group of genetic disorders. Even though abnormalities of bone growth are the major clinical manifestations, the pathological process may involve in any body system. Many of these disorders have dire consequences such as neonatal death and most will have life-long physical and psychosocial morbidity associated with them. Recent advances in genetic research have identified the genes underlying the primary defects in several common skeletal dysplasias such as achondroplasia and diastrophic dysplasia. While these advances are clearly important in developing better therapy and a cure for those conditions, the role of the pediatrician as the diagnostician has remained unchanged. In this article we describe how a systematic approach using the simplest of tools--clinical assessment and radiograph--can arrive at a diagnosis in most instances of newborns with skeletal dysplasias. The key features that are essential for establishing a diagnosis for most of the entities encountered in the newborn are described along with our general approach to the evaluation of the radiographs.
R I Macpherson; G S Pai
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  67     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-03-23     Completed Date:  2001-04-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  907-13     Citation Subset:  IM    
Department of Radiology, Medical University of South Carolina, Charleston, Soucth Carolina, USA.
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MeSH Terms
Achondroplasia / radiography
Bone Diseases, Developmental / radiography*
Infant, Newborn
Osteogenesis Imperfecta / radiography

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