Document Detail

Langer Mesomelic Dysplasia in Early Fetuses: Two Cases and a Literature Review.
MedLine Citation:
PMID:  23883335     Owner:  NLM     Status:  Publisher    
In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic dysplasia. A proper identification of the type of mesomelic dysplasia is important for genetic and reproductive counseling, estimation of child growth and prevention and/or treatment of complications. A competent pathologist could provide important diagnostic information, orienting or confirming the echographic or genetic suspect, sometimes suggesting diagnostic hypothesis concerning parental unidentified congenital syndromes.
Fabrizio Ambrosetti; Andrea Palicelli; Gaetano Bulfamante; Francesco Rivasi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-7-24
Journal Detail:
Title:  Fetal and pediatric pathology     Volume:  -     ISSN:  1551-3823     ISO Abbreviation:  Fetal Pediatr Pathol     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-7-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101230972     Medline TA:  Fetal Pediatr Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Anatomia Patologica, Oncologia, Reggio Emilia, Italy.
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