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    Pyknodysostosis: visceral manifestations and simian crease.

    Singh AR, Kaur A, Anand NK, Singh JR.

    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

    Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.

    Indian J Pediatr. 2004 May;71(5):453-5.

    PMID: 15163881 [PubMed - in process]

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