Clinical features of type 2 Stickler syndrome

Clinical features of type 2 Stickler syndrome.

T he Stickler syndromes (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment. The majority of patients and pedigrees exhibit the type 1 or ‘‘membranous’’ vitreous phenotype 11 and harbour mutations in the gene for type II collagen (COL2A1...

ONLINE MUTATION REPORT Clinical features of type 2 Stickler syndrome

T he Stickler syndromes (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment. The majority of patients and pedigrees exhibit the type 1 or ‘‘membranous’’ vitreous phenotype 11 and harbour mutations in the gene for type II collagen (COL2A1...

Clinical and Molecular genetics of Stickler syndrome.

Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common ophthalmological features include paravascular ...

Marshall/Stickler syndrome.

Clinical features of Tourette syndrome and tic disorders

Childhood is an important period of human life. Now children do not only need physical care and attention, but the attention and training should include all aspects of social development, emotional, and intellectual personality encompassing. In the meantime, according to the course of the disease is important. Disorders of childhood and adolescence can delay or even prevent the social developme...