[The pycnodysostosis (author's transl)].
作者信息
Kemperdick H, Lehr H J
出版信息
Monatsschr Kinderheilkd (1902). 1975 Feb;123(2):52-7.
PMID:1121304
Abstract
Two own observations of pycnodysostosis initiated our description of this disease. Inherited as an autosomal recessive trait the syndrome is characterized by a medium degree generalized osteosclerosis, open craniial sutures and fontanels until adult lige, hypoplastic mandibles with deficiency of the angle, prominence of the forehead and occiput, hypoplasia of the paranasal sinuses, commonly observed dysproportionate dwarfism, acro-osteolysis and increased bone fragility. Contrary to osteopetrosis the prognosis is good.
摘要
相似文献
1
[The pycnodysostosis (author's transl)].
Monatsschr Kinderheilkd (1902). 1975 Feb;123(2):52-7.
2
Pycnodysostosis. Orthopedic aspects with a description of 14 new cases.致密性骨发育不全。骨科方面及14例新病例描述
Clin Orthop Relat Res. 1992 Jul(280):263-76.
3
A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis.致密性骨发育不全、锁骨颅骨发育不全、骨硬化症和肢端骨质溶解症的对比研究。
S Afr Med J. 1974 May 18;48(24):1011-8.
4
Osteopetrosis (marble bone disease)--agenesis of paranasal sinuses.骨质石化症（大理石骨病）——鼻窦发育不全。
J Laryngol Otol. 1988 Nov;102(11):1047-51. doi: 10.1017/s0022215100107236.
5
Pycnodysostosis of Maroteaux and Lamy. Osteopetrosis acro-osteolytica.马罗泰克斯和拉米氏致密性成骨不全。肢端骨质溶解症性骨硬化症。
Acta Paediatr Belg. 1977 Jan-Mar;30 Suppl 1:1-18.
6
Pycnodysostosis: oral and cranio-facial findings of 2 cases.
J Osaka Univ Dent Sch. 1980 Dec;20:317-36.
7
Radiographic observations of pyknodysostosis. Report of a case.致密性成骨不全症的影像学观察。病例报告。
Oral Surg Oral Med Oral Pathol. 1977 Sep;44(3):476-82. doi: 10.1016/0030-4220(77)90419-4.
8
[A case of pycnodysostosis--observation of the skull by CT scan].[致密性骨发育不全1例——头颅CT扫描观察]
No To Shinkei. 1987 Jul;39(7):621-6.
9
[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.
10
[Marble bones disease--a contribution to its course (author's transl)].大理石骨病——关于其病程的一份报告（作者译）
Monatsschr Kinderheilkd. 1982 Feb;130(2):105-9.
引用本文的文献
1
Pycnodysostosis with Heterozygous beta-thalassemia.致密性骨发育不全合并杂合子β地中海贫血
Pediatr Radiol. 1977 Mar 17;5(3):164-71. doi: 10.1007/BF00973984.
Zotero 插件