Document Detail


Langer's mesomelic dysplasia: a case report.
MedLine Citation:
PMID:  23863349     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Langer's mesomelic dysplasia is a rare cause of disproportionate dwarfism. The affected children have a normal intellect and life span and are usually seen later in life for management of skeletal deformities. The diagnosis is usually established on clinical and anthropometric analyses supported with relevant radiological investigations. Plain radiographs and full-length scanograms are sufficient in establishing the diagnosis. Further genetic studies are sometimes performed for confirmation, as Leri Weill dyschondrosteosis and Langer's mesomelic dysplasia are inherited because of mutations in the short stature homeobox (SHOX) gene. The literature is sparse with less than a hundred cases reported, and this case adds to the available data on this rare syndrome.
Authors:
Vineet Aggarwal; Neeti Aggarwal; Bargavee Venkat
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-7-16
Journal Detail:
Title:  Journal of pediatric orthopedics. Part B     Volume:  -     ISSN:  1473-5865     ISO Abbreviation:  J Pediatr Orthop B     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-7-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9300904     Medline TA:  J Pediatr Orthop B     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Departments of aOrthopedics bRadiodiagnosis, Indira Gandhi Medical College, Shimla, India.
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