Profile
International Journal of Pediatrics & Neonatal Care Volume 1 (2015), Article ID 1:IJPNC-101, 2 pages
http://dx.doi.org/10.15344/2455-2364/2015/101
Case Report
A Case of Intracranial Hemorrhage in a Neonate with Osteogenesis Imperfecta Type III with a Novel Mutation in COL1A2

Shin-Hee Kim1 and Won-Ho Hahn2*

1Department of Pediatrics, College of Medicine, Catholic University, Republic of Korea
2Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Republic of Korea
Dr. Won-Ho Hahn, Department of Pediatrics, Soon Chun Hyang University Seoul Hospital, 59, Daesagwan-ro, Yongsan-gu, Seoul, Republic of Korea, 140-887, Tel: +82-2-709-9147, Fax: +82-2-794-5471; E-mail: dr.hahn.md@gmail.com
13 November 2014; 10 January 2015; 12 January 2015
Kim SH, Hahn WH (2015) A Case of Intracranial Hemorrhage in a Neonate with Osteogenesis Imperfecta Type III with a Novel Mutation in COL1A2. Int J Pediatr Neonat Care 1: 101. doi: http://dx.doi.org/10.15344/2455-2364/2015/101

References

  1. Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. Lancet 363: 1377- 1385 [CrossRef] [Google Scholar] [PubMed]
  2. Shapiro JR, Stover ML, Burn VE, McKinstry MB, Burshell AL, et al. ( 1992) An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. J Clin Invest 89: 567-573 [CrossRef] [Google Scholar] [PubMed]
  3. Germain-Lee EL (2011) A new culprit in osteogenesis imperfecta. J Bone Miner Res 26: 2795-2797 [CrossRef] [Google Scholar] [PubMed]
  4. Wheeler VR, Cooley NR Jr, Blackburn WR (1988) Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature. Pediatr Pathol 8: 55-64 [CrossRef] [Google Scholar] [PubMed]
  5. Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL (1992) Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. Eur J Radiol 14: 1-10 [CrossRef] [Google Scholar] [PubMed]
  6. Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101-116 [CrossRef] [Google Scholar] [PubMed]
  7. Petruzzellis M, De Blasi R, Lucivero V, Sancilio M, Prontera M, et al. (2007) Cerebral aneurysms in a patient with osteogenesis imperfecta and exon 28 polymorphism of COL1A2. AJNR Am J Neuroradiol 28: 397-398 [Google Scholar] [PubMed]
  8. Sillence DO (1994) Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation. Pediatr Radiol 24: 427-430 [CrossRef] [Google Scholar] [PubMed]
  9. Albayram S, Kizilkilic O, Yilmaz H, Tuysuz B, Kocer N, et al. (2003) Abnormalities in the cerebral arterial system in osteogenesis imperfecta. AJNR Am J Neuroradiol 24: 748-750 [Google Scholar] [PubMed]
  10. Faqeih E, Roughley P, Glorieux FH, Rauch F (2009) Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. Am J Med Genet A 149A: 461-465 [CrossRef] [Google Scholar] [PubMed]