Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome? Am J Med Genet A 2003 Aug 30;121A(2):118-25
Date
08/12/2003Pubmed ID
12910489DOI
10.1002/ajmg.a.20181Scopus ID
2-s2.0-0043195958 (requires institutional sign-in at Scopus site) 7 CitationsAbstract
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.
Author List
Singh JA, Williams CB, McAlister WHAuthor
Calvin B. Williams MD, PhD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentArthritis, Juvenile
Bone Resorption
Female
Genes, Recessive
Humans
Metacarpus
Osteolysis, Essential
Patella
Radiography
Scaphoid Bone
Siblings
Syndrome
Synovitis
Talus
