Document Detail


Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?
MedLine Citation:
PMID:  12910489     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Osteolysis syndromes are characterized by resorption of affected bones with associated swelling and pain. Various forms of multicentric osteolysis syndromes including autosomal dominant and recessive carpal-tarsal osteolysis, Torg, François, Whyte-Hemingway, Hajdu-Cheney, Winchester, and other forms have been described. Most present in pre-school years with extensive involvement and destruction of multiple bones. We present a sister-pair, both of whom presented in early teenage, i.e., 13 and 15.5 years, respectively, with bilateral ankle, knee, and later, wrist pain. Radiological examination revealed bilateral osteolysis of tali, scaphoids, and patellae, and short fourth metacarpals in both sisters. Further investigation revealed absence of renal involvement, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides, and presence of chronic synovitis in both sisters. Both parents and a younger brother were without radiographic or clinical evidence of the disease and there was no history of consanguinity. Thus, our sister-pair presented with the same carpal and tarsal bone involvement at a much later age, with evidence of chronic synovitis, along with short fourth metacarpals (brachydactyly type E changes) and without renal disease, suggesting a new syndrome with probable autosomal recessive inheritance.
Authors:
Jasvinder A Singh; Calvin B Williams; William H McAlister
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-11     Completed Date:  2004-04-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  118-25     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Division of Rheumatology, Minneapolis VA Medical Center and University of Minnesota, Minneapolis, Minnesota 55417, USA. sing0198@umn.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Arthritis, Juvenile Rheumatoid / diagnosis
Bone Resorption / genetics
Female
Genes, Recessive
Humans
Metacarpus / abnormalities,  pathology*,  radiography
Osteolysis, Essential / genetics*,  pathology,  radiography
Patella / pathology*,  radiography
Scaphoid Bone / pathology*,  radiography
Siblings
Syndrome
Synovitis / genetics*,  radiography
Talus / pathology*,  radiography*

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


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