Genetics for ophthalmologists.
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Waardenbury syndrome is divided into three groups: Type I, with dystopia; Type II, and "pseudo-Waardenburg" syndrome, without dystopia; the third has unilateral congenital ptosis. Using Waardenburg's original variables a, b and c, ratios a/b and c/a, Cotterman's L function, newly described indices X and Y and some phenotypic manifestations, a confident neat separation of each type can be obtained. New cases of all types and electron micrographs of the hair pigment anomaly are described.
A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.
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CAT scanning of the orbit is greatly facilitated by the distinctly different absorption characteristics of the various orbital tissues. Intraorbital tumours can be defined accurately with respect to size, topographic position and extent. Differentiation between the benign or malignant character of orbital tumours is less well achieved by CAT scanning than by sonography; therefore sonography is needed as a complementary diagnostic modality.
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