Biomedical subjects

I Winship

Publications and source records attributed to I Winship.

21 records · Page 2Linked to original sources

PubMed1986

Epidermolysis bullosa in South Africa.

The term 'epidermolysis bullosa hereditaria' is applied to a heterogeneous group of mechanobullous diseases of which at least 19 different forms have been reported. Classification of these separate genetic entities into various subtypes is possible on clinical, genetic, biochemical and histopathological bases. Some forms are potentially lethal, while others are benign. Many of the subgroups are represented in South Africa, although little has been published locally on these conditions. On the basis of a wide-scale study in the RSA, the condition is reviewed in order to present current concepts and future developments of this rare but significant genodermatosis.

Diagnosis, Differential↗

PubMed1985

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.

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.

Blindness↗

PubMed1984

X-linked inheritance of ocular albinism with late-onset sensorineural deafness.

We have investigated a large Afrikaner kindred in which seven males had ocular albinism and late-onset sensorineural deafness (OASD). The pattern of inheritance of OASD is X-linked recessive. To the best of our knowledge, this association has not previously been reported and in order to establish syndromic identity we describe and discuss the condition in this article.

Adult↗