Pyknodysostosis: visceral manifestations and simian crease.
Indian J Pediatr
;
2004 May; 71(5): 453-5
Article
in English
| IMSEAR
| ID: sea-82004
ABSTRACT
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Splenomegaly
/
Abnormalities, Multiple
/
Female
/
Humans
/
Hand Deformities, Congenital
/
Cathepsins
/
Child
/
Follow-Up Studies
/
Risk Assessment
/
Craniofacial Dysostosis
Type of study:
Etiology study
/
Observational study
/
Prognostic study
/
Risk factors
Language:
English
Journal:
Indian J Pediatr
Year:
2004
Type:
Article
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