[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.
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
相似文献
1
[Gorlin-Cohen syndrome (frontometaphyseal dysplasia)].
Rofo. 1977 Nov;127(5):451-8. doi: 10.1055/s-0029-1230740.
2
[Idiopathic multicentric osteolysis with craniodysplasis and mental retardation: a new syndrome? (author's transl)].
Rofo. 1977 Sep;127(3):255-61. doi: 10.1055/s-0029-1230695.
3
Frontometaphyseal dysplasia.
Radiol Clin North Am. 1972 Aug;10(2):225-43.
4
Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report.
J Foot Ankle Surg. 2000 Mar-Apr;39(2):131-5. doi: 10.1016/s1067-2516(00)80038-1.
5
Peripheral dysostosis.
Birth Defects Orig Artic Ser. 1974;10(12):510-12.
6
A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome.
Birth Defects Orig Artic Ser. 1975;11(4):127-35.
7
[Differential diagnosis of metaphyseal dysplasias and osteodysplasty (osteodysplasty of Melnick and Needles) (author's transl)].
Z Orthop Ihre Grenzgeb. 1978;116(6):810-9.
8
Frontometaphyseal dysplasia: neonatal radiographic diagnosis.
Am J Med Genet. 1995 May 22;57(1):1-5. doi: 10.1002/ajmg.1320570102.
9
Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.
AJR Am J Roentgenol. 1976 Dec;127(6):927-33. doi: 10.2214/ajr.127.6.927.
10
Cranio-carpo-tarsal dysplasia. A report of seven cases.
Radiology. 1977 Jun;123(3):719-22. doi: 10.1148/123.3.719.
引用本文的文献
1
Craniotubular bone disorders.
Pediatr Radiol. 1994;24(6):392-406. doi: 10.1007/BF02011904.
2
Frontometaphyseal dysplasia: autosomal dominant or X-linked?
J Med Genet. 1980 Feb;17(1):53-6. doi: 10.1136/jmg.17.1.53.
Zotero 插件