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MeSH Review:

Hajdu-Cheney Syndrome

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High impact information on Hajdu-Cheney Syndrome

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome [1].
The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950) [1].
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene [2].
Occlusal rehabilitation of a patient with hereditary multicentric osteolysis [3].
To our knowledge, this is the first report describing GH deficiency and neuropathy in Hajdu-Cheney syndrome [4].

References

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Martignetti, J.A., Aqeel, A.A., Sewairi, W.A., Boumah, C.E., Kambouris, M., Mayouf, S.A., Sheth, K.V., Eid, W.A., Dowling, O., Harris, J., Glucksman, M.J., Bahabri, S., Meyer, B.F., Desnick, R.J. Nat. Genet. (2001) [Pubmed]
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene. Al-Aqeel, A.I. Saudi medical journal. (2005) [Pubmed]
Occlusal rehabilitation of a patient with hereditary multicentric osteolysis. Liljeström, M.R., Närhi, T.O. The Journal of prosthetic dentistry. (2003) [Pubmed]
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. Siklar, Z., Tanyer, G., Dallar, Y., Aksoy, F.G. Journal of pediatric endocrinology & metabolism : JPEM. (2000) [Pubmed]

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