Document Detail


Langer Mesomelic Dysplasia in Early Fetuses: Two Cases and a Literature Review.
MedLine Citation:
PMID:  23883335     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Fabrizio Ambrosetti; Andrea Palicelli; Gaetano Bulfamante; Francesco Rivasi
Related Documents :
17073995 - Case of acrodermatitis continua accompanied by psoriatic arthritis.
8247935 - Soaring suppurative sea shells from the sea shore: pseudomonas aeruginosa and klebsiell...
18178765 - Tophaceous gout in a patient with rheumatoid arthritis.
18350455 - Mycobacterium chelonae peritonitis in a patient on peritoneal dialysis.
7719825 - Acetabulum pedis. part ii: talocalcaneonavicular joint socket in clubfoot.
14762715 - Melanotic oncocytic metaplasia of the nasopharynx: a report of seven cases and review o...
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:  -    
Affiliation:
Anatomia Patologica, Oncologia, Reggio Emilia, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Irritant nail dermatitis of chemical depilatory product presenting with koilonychia.
Next Document:  Idiopathic Arterial Calcification of Infancy- Peritoneal Dialysis for Treatment of Hypertension.