title: Pyknodysostosis: visceral manifestations and simian crease.
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.
authors.affiliation: Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.
authors.forename: Arvind Rup
authors.initials: AR
authors.lastname: Singh
authors.forename: Anupam
authors.initials: A
authors.lastname: Kaur
authors.forename: Nand Kishore
authors.initials: NK
authors.lastname: Anand
authors.forename: Jai Rup
authors.initials: JR
authors.lastname: Singh
mesh_terms: 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*
chemical_list: D002403:Cathepsins; C534130:CTSK protein, human; D056657:Cathepsin K