title: Pycnodysostosis associated with spondylolysis.
abstract: We report 23 years of observation of a patient with pycnodysostosis associated with progressive spondylolysis. There have been very few papers describing the development of spondylolysis associated with pycnodysostosis as confirmed by serial X-ray examinations. The diagnosis was made by the patient's typical bird-like face, plain radiological findings, and repeated tibial fractures. At the age of 8 years, spondylolysis of L4 was observed. The spondylolysis had increased in number to 4 by the age of 24 years, that is, L2 through L5.
authors.affiliation: Department of Orthopaedic Surgery, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan.
authors.forename: Miyuki Sakuma
authors.initials: MS
authors.lastname: Zenke
authors.forename: Masahito
authors.initials: M
authors.lastname: Hatori
authors.forename: Satoshi
authors.initials: S
authors.lastname: Tago
authors.forename: Masami
authors.initials: M
authors.lastname: Hosaka
authors.forename: Shoichi
authors.initials: S
authors.lastname: Kokubun
mesh_terms: D000328:Adult; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D011859:Radiography; D013169:Spondylolysis / Q000150:complications* / Q000000981:diagnostic imaging; D013577:Syndrome; D013978:Tibial Fractures / Q000209:etiology; D014034:Toes / Q000002:abnormalities*