释义 |
Rothmund-Thomson syndrome
Roth·mund syn·drome (rot'mūnd), atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth, hypogonadism; autosomal recessive inheritance. Synonym(s): poikiloderma atrophicans and cataract, poikiloderma congenitale, Rothmund-Thomson syndromeRothmund-Thomson syndrome (rŏth′mŏnd″tŏm′sĭn), RTSA rare autosomal recessive disease in which helicase is formed abnormally. Children affected by RTS have poikiloderma; deformities of bone, nails, and hair; premature aging; and a predisposition to cancer. Rothmund, August von, German physician, 1830-1906. Rothmund syndrome - atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth and hypogonadism. Synonym(s): poikiloderma atrophicans and cataract; poikiloderma congenitale; Rothmund-Thomson syndromeRothmund-Thomson syndrome - Synonym(s): Rothmund syndrome
Thomson, Matthew Sidney, English dermatologist, 1894-1969. Rothmund-Thomson syndrome - Synonym(s): Rothmund syndromeAcronymsSeeRTS |