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- W2035591808 abstract "Four patients are described with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two patients were siblings and one was the product of a consanguineous marriage. The disorder appears to be genetically determined, but the mode of inheritance has not been established. The disease was noticed in the patients' early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of the viscera or muscles and no immunologic abnormalities. The most important finding was markedly thickened fascia. This hereditary connective tissue disorder has all the characteristics of the tight-skin mouse." @default.
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- W2035591808 date "1989-11-01" @default.
- W2035591808 modified "2023-09-25" @default.
- W2035591808 title "Congenital fascial dystrophy: Stiff skin syndrome—a human counterpart of the tight-skin mouse" @default.
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- W2035591808 doi "https://doi.org/10.1016/s0190-9622(89)70280-2" @default.
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