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[Gorlin-Cohen syndrome (frontometaphyseal dysplasia)].

作者信息

Kleinsorge H, Böttger E

出版信息

Rofo. 1977 Nov;127(5):451-8. doi: 10.1055/s-0029-1230740.

DOI:10.1055/s-0029-1230740
PMID:144680
Abstract

The classical case of a Gorlin-Cohen-Syndrom (= fronto-metaphyseal dysplasis=FMD) is presented. The disease has been mentioned in literature for the first time in 1969 and has been described four times up to now. The characteristic features of this syndrome are very prominent supraorbital ridges with generalized bone dysplasia and joint deformities.

摘要

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引用本文的文献

1
Craniotubular bone disorders.颅骨管状骨疾病。
Pediatr Radiol. 1994;24(6):392-406. doi: 10.1007/BF02011904.
2
Frontometaphyseal dysplasia: autosomal dominant or X-linked?额骨干骺端发育不良：常染色体显性遗传还是X连锁遗传？
J Med Genet. 1980 Feb;17(1):53-6. doi: 10.1136/jmg.17.1.53.