Skeletal characterization in a patient with Hajdu-Cheney syndrome undergoing total knee arthroplasty
Sign Up to like & getrecommendations! Published in 2021 at "Osteoporosis International"
DOI: 10.1007/s00198-021-05914-6
Abstract: Hajdu-Cheney syndrome (HCS) is a rare genetic connective tissue disorder caused by gain-of-function mutations in the NOTCH2 gene. We report a 38-year-old male HCS patient with a history of multiple pathologic fractures, poor bone stock… read more here.
Keywords: cheney syndrome; hajdu cheney; knee arthroplasty; total knee ... See more keywords
Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis.
Sign Up to like & getrecommendations! Published in 2018 at "Bone"
DOI: 10.1016/j.bone.2018.06.020
Abstract: Osteoarthritis is a joint disease characterized by cartilage degradation, altered gene expression and inflammation. NOTCH1 and NOTCH2 receptors and the JAGGED1 ligand regulate chondrocyte biology; however, the contribution of Notch signaling to osteoarthritis is controversial.… read more here.
Keywords: osteoarthritis; cheney syndrome; hajdu cheney; 1ecan mutants ... See more keywords
Phenotype variability in Hajdu-Cheney syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.04.015
Abstract: 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… read more here.
Keywords: hajdu cheney; variability; cheney syndrome; diagnosis ... See more keywords
Hajdu-Cheney Syndrome: Report of a Case in Spain
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12030566
Abstract: This paper describes the case of a 54-year-old woman diagnosed with Hajdu–Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an… read more here.
Keywords: hajdu cheney; cheney syndrome; report case; case ... See more keywords
Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231911374
Abstract: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant manifestation of a congenital genetic disorder caused by a mutation in the NOTCH2 gene. NOTCH signaling has variations from NOTCH 1 to 4 and maintains homeostasis by… read more here.
Keywords: hcs; cheney syndrome; hajdu cheney; progress current ... See more keywords
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Chinese Medical Journal"
DOI: 10.4103/0366-6999.219141
Abstract: Hajdu‐Cheney syndrome (HCS) is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis, wormian bones, and abnormal bone fractures.[1]… read more here.
Keywords: chinese family; notch homolog; cheney syndrome; hajdu cheney ... See more keywords