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隐性遗传的中间型骨硬化症。

Intermediate form of osteopetrosis with recessive inheritance.

作者信息

Kaibara N, Katsuki I, Hotokebuchi T, Takagishi K

出版信息

Skeletal Radiol. 1982;9(1):47-51. doi: 10.1007/BF00367382.

DOI:10.1007/BF00367382
PMID:7157018
Abstract

The clinical and radiographic features of the intermediate form of osteopetrosis in two sibs are presented in which the disorder appears to have been inherited as a recessive trait. Although this form of osteopetrosis has been poorly delineated, its recognition is practically important in order to give an accurate prognosis. This paper also presents an unusual complication of bilateral avascular necrosis of the femoral head in the younger sib. Radiographic changes of the femoral heads suggest those of Legg-Calvé-Perthes disease, though the possibility of avascular necrosis following unrecognized femoral neck fracture is not completely excluded.

摘要

本文介绍了两名同胞患中间型骨硬化症的临床和影像学特征,该疾病似乎以隐性性状遗传。尽管这种类型的骨硬化症尚未得到充分描述,但对其进行识别对于给出准确的预后至关重要。本文还介绍了较年轻同胞发生的双侧股骨头缺血性坏死这一罕见并发症。股骨头的影像学改变提示为莱-卡-佩病,但未被识别的股骨颈骨折后发生缺血性坏死的可能性也不能完全排除。

相似文献

1
Intermediate form of osteopetrosis with recessive inheritance.隐性遗传的中间型骨硬化症。
Skeletal Radiol. 1982;9(1):47-51. doi: 10.1007/BF00367382.
2
Evaluation of femoral head viability via bone scintigraphy in the postoperative pediatric patient.通过骨闪烁显像评估小儿术后股骨头的存活情况。
Pediatr Radiol. 2018 Mar;48(3):350-358. doi: 10.1007/s00247-017-4030-7. Epub 2017 Nov 27.
3
The pathology of Legg-Perthes disease and its comparison with aseptic necrosis.
Clin Orthop Relat Res. 1975 Jan-Feb(106):7-18. doi: 10.1097/00003086-197501000-00002.
4
A comparative study of histology in Perthes' disease and idiopathic avascular necrosis of the femoral head in adults (IANF).
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5
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.在一个家族中,由于COL2A1基因的p.Gly1170Ser突变,导致早发性髋关节骨关节炎、股骨头缺血性坏死或Legg-Calvé-Perthes病出现与发病年龄相关的表现。
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Avascular necrosis superimposed on Legg-Calvé-Perthes disease in a cardiac transplant patient.一名心脏移植患者并发Legg-Calvé-Perthes病的无血管性坏死。
Clin Orthop Relat Res. 1994 Jan(298):199-201.
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Legg-Perthes-Calvé disease: a new method for measurement of roentgenographic results of bilateral cases.莱格-佩尔茨-卡尔韦病:一种测量双侧病例X线检查结果的新方法。
J Pediatr Orthop. 1984 Aug;4(4):431-5.
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引用本文的文献

1
Legg-Calvé-Perthes disease in a child with osteopetrosis.一名患有骨硬化症儿童的莱-卡-佩病
Clin Pract. 2011 Dec 13;1(4):e139. doi: 10.4081/cp.2011.e139. eCollection 2011 Sep 28.
2
Radiography of successful bone marrow transplantation for osteopetrosis.
Skeletal Radiol. 2007 Jun;36 Suppl 1:S34-7. doi: 10.1007/s00256-006-0141-1. Epub 2006 Jun 24.
3
Case report 278. Osteopetrosis (tarsa type) with hemorrhagic cyst of the right sixth rib (proved) and the left second rib (presumptive).病例报告278。骨硬化症(跗骨型)伴右侧第六肋骨出血性囊肿(已证实)及左侧第二肋骨出血性囊肿(推测)。

本文引用的文献

1
Osteopetrosis.
Am J Surg. 1954 Jan;87(1):50-62. doi: 10.1016/0002-9610(54)90041-0.
2
Osteopetrosis: further heterogeneity.
J Pediatr. 1980 Oct;97(4):580-5. doi: 10.1016/s0022-3476(80)80012-6.
3
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.三姐妹患骨硬化症、肾小管酸中毒和基底节钙化。
Am J Med. 1980 Jul;69(1):64-74. doi: 10.1016/0002-9343(80)90501-x.
4
Skeletal Radiol. 1984;12(1):59-62. doi: 10.1007/BF00373179.
4
Variable osteoclast appearance in human infantile osteopetrosis.人类婴儿骨硬化症中破骨细胞的可变外观。
Calcif Tissue Int. 1988 Aug;43(2):67-76. doi: 10.1007/BF02555149.
Human osteopetrosis: a histological, ultrastructural, and biochemical study.
人类骨硬化症:一项组织学、超微结构及生物化学研究。
J Bone Joint Surg Am. 1980 Apr;62(3):384-99.
5
Osteopetrosis associated with proximal and distal tubular acidosis.
Acta Paediatr Scand. 1972 Jul;61(4):429-34. doi: 10.1111/j.1651-2227.1972.tb15859.x.
6
Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.骨硬化症。显性遗传良性型的临床、遗传、代谢及形态学研究。
Medicine (Baltimore). 1968 Mar;47(2):149-67.
7
[Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship].[骨硬化症与肾小管酸中毒。一个家族中出现这种关联的2例病例]
Arch Fr Pediatr. 1972 Mar;29(3):269-86.
8
Osteopetrosis in two brothers with severe mental retardation.两名患有严重智力障碍的兄弟患有的骨硬化症。
Birth Defects Orig Artic Ser. 1975;11(6):91-8.
9
Osteopetrosis in children: a report of 26 cases.儿童骨质石化症:26例报告
J Pediatr. 1977 Jul;91(1):43-7. doi: 10.1016/s0022-3476(77)80441-1.
10
Assay on the present clinical and nosographical aspects of osteopetrosis (Albers-Schönberg's disease): report of five cases.骨硬化症(阿尔伯斯-尚伯格病)的当前临床与疾病分类学研究:五例报告
Panminerva Med. 1978 Oct-Dec;20(4):213-22.