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...
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 ...
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...
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...
Muller C, Goupille P, Valat J-P, Lorette G. Acro-osteolysis (Hajdu-Cheney syndrome). Acta Radiologica. 1994;35(2):201-.Muller C, Goupille P, Valat JP, Lorette G (1994) Acro-osteolysis (Hajdu-Cheney syndrome). Acta Radiol 35:201...
Hajdu-Cheney syndrome; Acroosteolysis dominant type; Serpentine fibula polycystic kidney syndrome; Orpha number: 955 Definition Hajdu-Cheney syndrome (HCS) is a rare inherited connective tissue disease characterized by acroosteolysis of hands and feet, developmental defects of bones, teeth and joints ...
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disor... MA Simpson,MD Irving,E Asilmaz,... -...
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...
Hajdu-Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2leading to the...doi:10.1007/s11914-016-0311-6Canalis, ErnestoZanotti, StefanoSpringer USCurrent Osteoporosis ReportsE. Canalis and S. Zanotti, "Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations," ...
Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular...