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...
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: a review. Orphanet J Rare Dis. 2014;9:200. https://doi.org/10.1186/s13023-014-0200-y.Canalis, E., and Zanotti, S. (2014) Hajdu-Cheney syndrome: a review. Or- phanet J. Rare Dis. 9, 200Canalis E, Zanotti S (2014) Hajdu Cheney syndrome: a review. ...
病例报告了一例于2021年4月就诊的3岁女性患儿在诊治检查过程中发现有明显的骨质疏松,双肾囊肿,身材矮小、眼距增宽、鼻梁低平、毛发粗糙、前额突出、下颌短小,指、趾末端肢端溶解等临床表现,经实验室检查初步做出Hajdu‐Cheney 综合征(Hajdu‐Cheneysyndrome,HCS)诊断,针对此病例,杨烨博士提出对患儿进行追踪治疗,以长期...
病例报告了一例于2021年4月就诊的3岁女性患儿在诊治检查过程中发现有明显的骨质疏松,双肾囊肿,身材矮小、眼距增宽、鼻梁低平、毛发粗糙、前额突出、下颌短小,指、趾末端肢端溶解等临床表现,经实验室检查初步做出Hajdu‐Cheney 综合征(Hajdu‐Cheneysyndrome,HCS)诊断,针对此病例,杨烨博士提出对患儿进行追踪治疗,以长期...
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 ...
Genetics of the Hajdu-Cheney syndromeAnatoliaancient DNAarchaeologyEarly Bronze Agemortuary practicesmtDNAurbanismNo abstract is available for this article.doi:10.1002/art.1780300621Allan GibofskyJohn Wiley & Sons, Ltd.Arthritis & Rheumatology
(Hajdu-Cheney syndrome ,HCS ,OMIM 102500)又称原发性骨发育不良伴肢端溶骨症。最早分别由1948年Hajdu 及1965年Cheney 两位放射科医师进行了个案报道[1-2]。HCS 是一种罕见的常染色体显性遗传病,大多数病例呈散发性。其主要临床特点是进行性的局灶性骨质破坏,包括肢端骨溶解和全身骨质疏松。其他临床特点有...
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 ...