Pyknodysostosis: Visceral manifestations and simian crease

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 a...

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Veröffentlicht in:	Indian journal of pediatrics 2004-05, Vol.71 (5), p.453-455
Hauptverfasser:	ARVIND RUP SINGH, KAUR, Anupam, NAND KISHORE ANAND, SHARMA, Sudesh, JAI RUP SINGH
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Biological and medical sciences Cathepsin K Cathepsins - genetics Child Craniofacial Dysostosis - complications Craniofacial Dysostosis - diagnosis Diseases of the osteoarticular system Female Follow-Up Studies Hand Deformities, Congenital - complications Hand Deformities, Congenital - diagnosis Hepatomegaly - complications Hepatomegaly - diagnosis Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Risk Assessment Splenomegaly - complications Splenomegaly - diagnosis
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