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Foot Deformities in Hajdu-Cheney Syndrome

Discussion in 'Pediatrics' started by NewsBot, Dec 16, 2017.

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  1. NewsBot

    NewsBot The Admin that posts the news.

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    Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature.
    Shah AB et al
    J Orthop Case Rep. 2017 Sep-Oct;7(5):11-15. doi: 10.13107/jocr.2250-0685.876.
     
  2. Admin2

    Admin2 Administrator Staff Member

    Hajdu–Cheney syndrome

    Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome,[1] is an extremely rare autosomal dominant congenital disorder[2][3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 70 cases have been reported worldwide since the discovery of the syndrome in 1948.

    1. ^ Online Mendelian Inheritance in Man (OMIM) 102500
    2. ^ Crifasi, P. A.; Patterson, M. C.; Bonde, D.; Michels, V. V. (Jun 1997). "Severe Hajdu-Cheney syndrome with upper airway obstruction". American Journal of Medical Genetics. 70 (3): 261–266. doi:10.1002/(SICI)1096-8628(19970613)70:3<261::AID-AJMG9>3.0.CO;2-Z. PMID 9188663. 
    3. ^ Brennan AM, Pauli RM (May 2001). "Hajdu--Cheney syndrome: evolution of phenotype and clinical problems". Am. J. Med. Genet. 100 (4): 292–310. doi:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4. PMID 11343321. 
     
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