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 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.
Singh
Arvind Rup
AR
Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.
Kaur
Anupam
A
Anand
Nand Kishore
NK
Singh
Jai Rup
JR
D000015:Abnormalities, Multiple / Q000175:diagnosis; D056657:Cathepsin K; D002403:Cathepsins / Q000235:genetics; D002648:Child; D003394:Craniofacial Dysostosis / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis*; D006529:Hepatomegaly / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D018570:Risk Assessment; D013163:Splenomegaly / Q000150:complications / Q000175:diagnosis*
D002403:Cathepsins; C534130:CTSK protein, human; D056657:Cathepsin K