Hajdu-Cheney综合征(Hajdu-Cheney syndrome,HCS)是一种罕见的遗传性结缔组织病,其特征是手脚肢端骨溶解,骨骼、牙齿和关节发育缺陷,引起明显的颅面和颅骨改变,并伴有严重的骨质疏松和身材矮小。1948年Hajdu第一次描述了这种疾病——一名37岁的会计在12年...
Gain-of-function NOTCH2 mutations can cause Hajdu Cheney syndrome (HCS), an untreatable disease characterized by osteoporosis and fractures, craniofacial developmental abnormalities, and acro-osteolysis. We have previously created a mouse model harboring a point 6955C>T mutation in the Notch2 locus ...
导读:Hajdu-Cheney综合征也称为遗传性骨发育不良并肢端溶骨症,是一种遗传性罕见的骨代谢疾病,以肢端末节骨质溶解,牙齿过早脱落,牙周炎有关。 Fig. 1 Photographs of the superior and inferior extremities of the patient with Hajdu—Cheney syndrome presented in this article demonstrating the extensive bone and...
Hajdu-Cheney综合征也称为遗传性骨发育不良并肢端溶骨症,是一种常染色体显性遗传骨骼疾病,特点是身材矮小,面容粗糙畸形,长骨弯曲,脊柱异常。 NOTCH2基因在相关数据库上主要报道与两种疾病相关。 Hajdu-Cheney syndrome 此疾病在数据库中有27个条目,都为无义或移码突变,主要集中在2000位氨基酸之后。 根据protein domain...
Hajdu-Cheney syndrome is a rare congenital disease with acro-osteolysis, osteoporotic changes of the spine and long bones of extremities and marked basilar invagination with an unusually deformed skull. Magnetic resonance imaging of a 32-year-old male revealed the deformed skull and almost horizontal...
Hadjdu-Cheney syndrome is a rare type of syndrome characterized by acro-osteolysis, dolichocephaly with multiple Wormian bones, absence of frontal sinuses and joint laxity. A case of this syndrome is presented. A histological study of the osteolytic lesion revealed destruction characterized by mic...
Two independent analyses published in Nature Genetics have uncovered a cluster of mutations in a key functional domain of NOTCH2 among patients with Hajdu–Cheney syndrome, a rare autosomal dominant condition characterized by marked bone loss. This discovery could potentially shed light on the ...
This syndrome is caused by NOTCH2 gene mutations, which cause an increase of osteoclast and osteoblast activity that leads to the increased bone resorption. Because of how rare the syndrome is and the vague onset of the symptoms, it can be challenging to make an early diagnosis. Case ...
MullerDepartmentsPhilippeDepartmentsGoupilleDepartmentsJ.-P.DepartmentsValatDepartmentsG.DepartmentsLoretteDepartmentsInformaworldActa RadiologicaMuller C, Goupille P, Valat J-P, Lorette G. Acro-osteolysis (Hajdu-Cheney syndrome). Acta Radiologica. 1994;35(2):201-....
Hajdu-Cheney综合征(Hajdu-Cheney syndrome,HCS)是一种罕见的代谢性骨病.自从 1948年Hajdu等[1]报道第一例散发性病例及1965年Cheney等[2]发现家族性发病的患者至今全... 叶强,刘承勇,魏清柱,... - 《临床放射学杂志》 被引量: 1发表: 2010年 一例鞍结节脑膜瘤伴豪谢综合征的术后护理 鞍结节脑膜瘤约占颅内...