Osteoporosis‐pseudoglioma syndrome
作者:
Anne de Paepe,
Jules G. Leroy,
Lieve Nuytinck,
Françoise Meire,
Jan Capoen,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1993)
卷期:
Volume 45,
issue 1
页码: 30-37
ISSN:0148-7299
年代: 1993
DOI:10.1002/ajmg.1320450110
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: osteoporosis;pseudoglioma;blindness;skeletal deformities;autosomal recessive;collagen type I
数据来源: WILEY
摘要:
AbstractTwo 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. © 1993 Wiley
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