MARKEZANI SYNDROME

From Big Medical Encyclopedia

MARKEZANI SYNDROME (The island of Marchesani, is mute. ophthalmologist, 1900 — 1952; synonym: Veyll's syndrome — Markezani, a syndrome of a microspherophakia-brakhimorfii, an inborn hyperplastic mesodermal dismorfodistrofiya) — the hereditary malformation which is characterized by the low growth, an incomplete dislocation of a crystalline lens and a brachydactyly.

It is for the first time described in 1932 by J. Weill, and in 1939 Mr. of Markezani allocated it as an independent syndrome. According to Feynberg (S. Century of Feinberg, 1960), M. is inherited by page as a dominant character with low penetrance of a gene or as recessive with partial expressivity at heterozygotes; The Karyotype is normal; meets at related marriages. The M of page is the cornerstone systemic hereditary lesion of mesenchymal fabric, edges under the influence of unknown factors the page or in hypoplastic the direction can develop in the hyperplastic direction from the outcome in M., causing emergence of a syndrome of Marfan (see. Marfana syndrome ), for to-rogo, as well as for M. of page, eye and dismorfologichesky anomalies are characteristic.

Roentgenograms of brushes: at the left — shortening and a thickening of phalanxes of fingers of a brush at Markezani's syndrome; on the right — a normal brush (it is given for comparison).

Morphological changes from skin are absent, fibrosis of connecting fabric of a small egg is noted, in skeletal muscles it is sharply expressed cross to striation of fibers. Low growth, inborn defects of a shape of the head (brachycephaly), excessively developed muscles and hypodermic cellulose are characteristic of patients with M.S.; top and bottom extremities are so short that patients cannot clasp own head with hands. Fingers are reduced in sizes (brachydactyly), thick. Radiological the asymmetric squeezed skull with a hypoplastic upper jaw and eye-sockets comes to light, the wrong formation and an arrangement of teeth (it is frequent with lack of roots), shortening of metacarpal bones, shortening and a thickening of phalanxes of fingers of brushes (fig.) and feet is noted. Ophthalmologic myopias come to light sharp (see. Short-sightedness ), glaucoma (see), reduction of the sizes and anomaly of a form of a crystalline lens — a microspherophakia and an incomplete dislocation (see. Crystalline lens ), quite often nystagmus (see) and disturbance convergences of eyes (see). Mental development normal.

The symptomatic treatment, is directed to decrease in the increased intraocular pressure.

The forecast for life favorable, but development of glaucoma is possible.


Bibliography Makkyyusik V. A. Ancestral features of the person, the lane with English, page 514, M., 1976; Feinberg S. Century of Congenital mesodermal dysmorpho-dystro-phy (brachymorphic type), Radiology, v. 74, p. 218, 1960; McGavicJ.S. Weill-Marche-sani syndrome, Amer. J. Ophthal., v. 62, p. 820, 1966; McKusick V. A. Heritable disorders of connective tissue, St Louis, 1972; Marchesani O. Brachydaktylie und angeborene Kugellinse als Systemer-krankung, Klin. Mbl. Augenheilk., Bd 103, S. 392, 1939; Rennert O. M. The Marchesani syndrome, Amer. J. Dis. Child., v. 117, p. 703, 1969.


BB. E. Veltishchev.

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