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Osteoporosis-pseudoglioma syndrome

Anne De Paepe UGent, Juliaan Leroy, Lieve Nuytinck UGent, Françoise Meire UGent and Jan Capoen (1993) AMERICAN JOURNAL OF MEDICAL GENETICS. 45(1). p.30-37
abstract
Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents. The first patient, a 17-year-old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years. The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition. Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
COLLAGEN TYPE-I, OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE, SKELETAL DEFORMITIES, BLINDNESS, PSEUDOGLIOMA, OSTEOPOROSIS
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
Am. J. Med. Genet.
volume
45
issue
1
pages
30 - 37
Web of Science type
Article
ISSN
0148-7299
DOI
10.1002/ajmg.1320450110
language
English
UGent publication?
yes
classification
A1
id
201133
handle
http://hdl.handle.net/1854/LU-201133
date created
2004-01-14 13:42:00
date last changed
2010-09-10 14:44:45
@article{201133,
  abstract     = {Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents.
The first patient, a 17-year-old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years.
The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition.
Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles.},
  author       = {De Paepe, Anne and Leroy, Juliaan and Nuytinck, Lieve and Meire, Fran\c{c}oise and Capoen, Jan},
  issn         = {0148-7299},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS},
  keyword      = {COLLAGEN TYPE-I,OSTEOGENESIS IMPERFECTA,AUTOSOMAL RECESSIVE,SKELETAL DEFORMITIES,BLINDNESS,PSEUDOGLIOMA,OSTEOPOROSIS},
  language     = {eng},
  number       = {1},
  pages        = {30--37},
  title        = {Osteoporosis-pseudoglioma syndrome},
  url          = {http://dx.doi.org/10.1002/ajmg.1320450110},
  volume       = {45},
  year         = {1993},
}

Chicago
De Paepe, Anne, Juliaan Leroy, Lieve Nuytinck, Françoise Meire, and Jan Capoen. 1993. “Osteoporosis-pseudoglioma Syndrome.” American Journal of Medical Genetics 45 (1): 30–37.
APA
De Paepe, Anne, Leroy, J., Nuytinck, L., Meire, F., & Capoen, J. (1993). Osteoporosis-pseudoglioma syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS, 45(1), 30–37.
Vancouver
1.
De Paepe A, Leroy J, Nuytinck L, Meire F, Capoen J. Osteoporosis-pseudoglioma syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS. 1993;45(1):30–7.
MLA
De Paepe, Anne, Juliaan Leroy, Lieve Nuytinck, et al. “Osteoporosis-pseudoglioma Syndrome.” AMERICAN JOURNAL OF MEDICAL GENETICS 45.1 (1993): 30–37. Print.