Premium
The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome
Author(s) -
Beighton P.,
Winship I.,
Behari D.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb01220.x
Subject(s) - osteogenesis imperfecta , corneal opacity , medicine , autosomal recessive inheritance , blindness , glaucoma , pediatrics , genetics , ophthalmology , biology , optometry , pathology , cornea , gene
We have investigated a South African family of Indian stock 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. To the best of our knowledge the syndromic association of OI and ocular problems of this type has not previously been reported, and we believe that this condition is a newly recognised entity. The pedigree is consistent with autosomal recessive inheritance.