Document Detail


[Fibrodysplasia ossificans progressiva (FOP): Case report].
MedLine Citation:
PMID:  23224318     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by fibrotic tissue proliferation and calcification that affect body soft tissues, especially after minor traumas. Joint ankylosis and restrictive respiratory failure can be observed in the most extreme cases of the disease. Because of its rarity, diagnosis is often late and many medical actions, such as biopsy, can result iatrogenic and worsen the prognosis. Diagnosis in the neonatal period may be difficult. There is a little number of cases diagnosed at early ages. The following case concerns a child born from a mother with fibrodysplasia ossificans progressiva who had signs of the disease at birth. The presence of bilateral deformed and unusually large hallux, generally accompanied by a short and stiff neck, may help in the diagnostic process.
Authors:
Alejandro Damián Ángel Rossi
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Archivos argentinos de pediatría     Volume:  110     ISSN:  1668-3501     ISO Abbreviation:  Arch Argent Pediatr     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372460     Medline TA:  Arch Argent Pediatr     Country:  Argentina    
Other Details:
Languages:  spa     Pagination:  e129-31     Citation Subset:  IM    
Affiliation:
Servicio de Pediatría, Hospital Español de Rosario, Rosario, Santa Fe, Argentina.
Vernacular Title:
Fibrodisplasia osificante progresiva (FOP): Informe de un caso.
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