Matsoukas Syndrome (Oculo-Cerebro-Articulo-Skeletal Syndrome) 7
General: Autosomal dominant; 323g61d some of the features are found in Larsen syndrome, Schwartz syndrome, Hallermann-Streiff syndrome, Mietens syndrome, and Stickler syndrome; both sexes affected; onset at birth.
Ocular: Microphthalmia; myopia; increased pupillary distance; cataract; corneal sclerosis with vascular pericorneal net.
Clinical: Small stature; multiple joint dislocations; mental retardation; high palate; small mouth.
Matsoukas J, et al. A newly recognized dominantly inherited syndrome: short stature, ocular and articular anomalies, mental retardation. Helv Paediatr Acta 1973; 28:383.
Schwartz O, Jumpel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962; 68:52.
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