Progeria in siblings.
作者信息
Franklyn P P
出版信息
Clin Radiol. 1976 Jul;27(3):327-33. doi: 10.1016/s0009-9260(76)80082-7.
PMID:975740
Abstract
Progeria or 'prematurely old' is an autosomal recessive trait that appears insidiously at or after the age of 6 months. Two affected siblings are reported showing radiologically progressive attenuation of the clavicles and terminal phalanges, widening of cranial sutures and mandibular hypoplasia. Scleroderma was also present. Out of 59 previously published cases five had scleroderma before the age of 2 years. Only three families with affected siblings have been previously recorded.
摘要
相似文献
1
Progeria in siblings.
Clin Radiol. 1976 Jul;27(3):327-33. doi: 10.1016/s0009-9260(76)80082-7.
2
Mandibular bone erosion and scleroderma.
Arthritis Rheum. 1976 Nov-Dec;19(6):1371. doi: 10.1002/art.1780190626.
3
[Resorption of the mandible in scleroderma].[硬皮病中下颌骨的吸收]
Fogorv Sz. 1984 Apr;77(4):115-7.
4
Widening of periodontal ligament space and mandibular resorption in patients with systemic sclerosis.系统性硬化症患者牙周膜间隙增宽及下颌骨吸收
Dentomaxillofac Radiol. 2007 Oct;36(7):441-2. doi: 10.1259/dmfr/82985174.
5
Mandibular resorption due to systemic sclerosis. Case report of surgical correction of a secondary open bite deformity.系统性硬化症所致下颌骨吸收。继发开放性咬合畸形手术矫正的病例报告。
Int J Oral Maxillofac Surg. 1995 Aug;24(4):261-7. doi: 10.1016/s0901-5027(95)80025-5.
6
[Mandibular lesion in progressive systemic sclerosis].[进行性系统性硬化症中的下颌病变]
Nihon Hifuka Gakkai Zasshi. 1982 Sep;92(10):1091-3.
7
Asymptomatic osteolysis of ribs and clavicles in progressive systemic sclerosis.
Aust N Z J Med. 1982 Dec;12(6):627-9. doi: 10.1111/j.1445-5994.1982.tb02652.x.
8
Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases.
Skeletal Radiol. 1990;19(8):585-90. doi: 10.1007/BF00241281.
9
Bone resorption of the mandible in progressive systemic sclerosis.
Arthritis Rheum. 1975 Sep-Oct;18(5):507-12. doi: 10.1002/art.1780180514.
10
Progressive osteolysis in progeria.
Am J Roentgenol Radium Ther Nucl Med. 1967 May;100(1):75-9. doi: 10.2214/ajr.100.1.75.
引用本文的文献
1
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 -/- mice, a murine model of human progeria.Zmpste24基因敲除小鼠（一种人类早衰的小鼠模型）的骨骼肌收缩功能和神经肌肉性能
Age (Dordr). 2012 Aug;34(4):805-19. doi: 10.1007/s11357-011-9281-x. Epub 2011 Jun 29.
2
Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis.早衰症和沃纳综合征中的热不稳定酶：与蛋白质错误假说相悖的证据。
Am J Hum Genet. 1980 Jul;32(4):614-9.
3
Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases.
Skeletal Radiol. 1990;19(8):585-90. doi: 10.1007/BF00241281.
Zotero 插件