Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature-Reference-Cited by-同舟云学术

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature

Published:2014-01-04 Issue:6 Volume:173 Page:799-804
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Kitaoka Taichi,Miyoshi Yoko,Namba Noriyuki,Miura Kohji,Kubota Takuo,Ohata Yasuhisa,Fujiwara Makoto,Takagi Masaki,Hasegawa Tomonobu,Jüppner Harald,Ozono Keiichi

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-013-2252-8.pdf

Reference22 articles.

1. Borochowitz Z, Gozal D, Misselevitch I, Aunallah J, Boss JH (1991) Familial Caffey's disease and late recurrence in a child. Clin Genet 40:329–335. doi: 10.1111/j.1399-0004.1991.tb03104.x

2. Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, Dallapiccola B (2007) Infantile cortical hyperostosis and COL1A1 mutation in four generations. Eur J Pediatr 170:1385–1390. doi: 10.1007/s00431-011-1463-0

3. Cho TJ, Moon HJ, Cho DY, Park MS, Lee DY, Yoo WJ, Chung CY, Choi IH (2008) The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). J Hum Genet 53:947–949. doi: 10.1007/s10038-008-0328-5

4. Couper RT, McPhee A, Morris L (2001) Indomethacin treatment of infantile cortical periostosis in twins. J Paediatr Child Health 37:305–308. doi: 10.1046/j.1440-1754.2001.00633.x

5. Cundy T (2012) Recent advances in osteogenesis imperfecta. Calcif Tissue Int 90:439–449. doi: 10.1007/s00223-012-9588-3

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