The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 28 (1) , 69-75
- https://doi.org/10.1111/j.1399-0004.1985.tb01220.x
Abstract
A South African family of Indian stock was investigated in which 4 brothers and 2 cousins had a severe form of osteogenesis imperfecta (OI) together with blindness due to hyperplasia of the vitreous, corneal opacity and secondary glaucoma. The syndromic association of OI and ocular problems of this type was not previously reported, and this condition seems to be a newly recognized entity. The pedigree is consistent with autosomal recessive inheritance.Keywords
This publication has 3 references indexed in Scilit:
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- Genetic heterogeneity in osteogenesis imperfecta.Journal of Medical Genetics, 1979
- Autosomal recessive inheritance of osteogenesis imperfectaClinical Genetics, 1975