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- Title
Camurati-Engelmann Hastalığı ve Osteoporoz: Olgu sunumu.
- Authors
rnek, Nurettin İrem; Gn, Kerem; Uludağ, Murat; Mısırlıoğlu, Tuğe zekli; Akarırmak, lk; Sarı, Hidayet; Zamberlan, Silvia
- Abstract
Progressive diaphyseal dysplasia, also known as Camurati-Engelmann disease (CED), is a rare autosomal dominant bone disorder caused by mutations in the transforming growth factor beta 1 (TGF- ?1) gene and characterized by cortical thickening of the diaphysis of tubular bones with sparing of the epiphysis and low bone mineral density. In this case report we presented a 23 year-old girl who has diagnosed as CED by genetic department and referred to our outpatient clinic with neck pain, dorsal pain, limbs pain and low bone mineral density.
- Subjects
BONE diseases; DYSPLASIA; OSTEOPOROSIS
- Publication
Turkish Journal of Osteoporosis / Turk Osteoporoz Dergisi, 2011, Vol 17, Issue 2, p59
- ISSN
2146-3816
- Publication type
Article