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单词 marfan syndrome
释义

> as lemmas

Marfan syndrome
attributive and in the genitive, esp. in Marfan syndrome. A heritable disorder of connective tissue resulting in abnormalities of the skeletal, ocular, and cardiovascular systems (typically arachnodactyly, subluxation of the lens, and defects of the mitral and aortic valves), caused by mutations in the fibrillin gene on chromosome 15. Also absol. and in the genitive, used absol.
ΚΠ
1935 Arch. Ophthalmol. 13 744 (heading) Arachnodactyly (dystrophia mesodermalis congenita, typus Marfanis; Marfan's syndrome; dolichostenomelia).
1945 W. E. Nelson Textbk. Paediatrics (ed. 4) 1184 Arachnodactyly, abnormal length of the extremities and particularly of the fingers and toes, represents a congenital anomaly which is frequently combined with luxation of the lens (Marfan's syndrome) and other malformations.
1973 Nature 5 Oct. 264/2 Marfan syndrome, which is inherited as an autosomal dominant trait with variable expressivity, results from a diffuse or generalized disorder of connective tissues.
1978 Practitioner May 775/1 During recent years incomplete variants of Marfan's syndrome termed formes frustes have been described which lack some of the classical features.
1986 National Enquirer (U.S.) 25 Mar. 46/1 Dr. Schwartz says Lincoln had Marfan's.
1991 Daily Tel. 29 July 10/8 The discovery will be invaluable for hunting down sufferers in affected families who can be helped if Marfan is accurately diagnosed.
extracted from Marfann.
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