Kniest Dysplasia (Metatropic Dwarfism Type II)
General: Autosomal dominant disease; Swiss cheese pattern on cartilage biop 131b19b sy specimen; due to either alteration metabolism of proteoglycans or abnormality in collagen synthesis; both sexes affected; collagen type II collagenopathy; produced by a single amino acid substitution in the type II collagen triple helix.
Ocular: Retinal detachment; severe myopia; cataracts; dislocated lenses; blepharoptosis; vitreoretinal degeneration; vitreous traction; congenital glaucoma; hypertelorism; mild synophrys; epicanthal folds; perivascular lattice degeneration, white without pressure.
Clinical: Severe short stature; typical facies with flat nasal bridge; cleft palate; hearing loss; joint contractures; lordosis; kyphosis.
Douglas GR. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1986; 100:860-861.
Maumenee IH, Traboulsi EI. The ocular findings m Kniest dysplasia. Am J Ophthalmol 1985; 100:155-l60.
Regenbogen LS, Co seas GJ, eds. Ocular-auditory syndromes. New York: Masson, 1985; 153-l56.
Wilkin DJ, et al. A single amino acid substitution (G 103D) in the type II collagen triple helix produces Kniest dysplasia. Hum Mol Genet 1994; 3:1999-2003.
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