Van der hoeve syndrome (osteogenesis imperfecta; osteopsathyrosis; ekman syndrome; lobstein syndrome; spurway syndrome; vrolik syndrome; eddowes syndrome; brittle bone disease)

General: Autosomal dominant.

Ocular: Glaucoma; blue sclera; keratoconus; cataract; optic nerve atrophy; retinopathy; retinal detachment.

Clinical: Brittle bones; deafness; hyperflexibility of ligaments; dental defects; developmental delay.

al Gazali LI, et al. A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents. Clin Dysmorphol 1994;3:55-62.

Buyse M, Bull MJ. A syndrome of osteogenesis imperfecta, microcephaly, and cataracts. Birth Defects 1975; 14:95-98.

Madigan WP, et al. Retinal detachment in osteogenesis imperfecta. J Pediatr Ophthalmol Strabismus 1994; 31:268-269.

Ruedemann AD. Osteogenesis imperfecta congenita and blue sclerotics. Arch Ophthalmol 1953; 49:6.

Tobelem G, et al. C2 deficiency, platelet aggregation reduction and Lobstein disease in the same family. Biomedicine 1974; 2 1:190-l93.