TY - JOUR
T1 - Phenotype variability in Hajdu-Cheney syndrome
AU - Regev, Miriam
AU - Pode-Shakked, Ben
AU - Jacobson, Jeffrey M.
AU - Raas-Rothschild, Annick
AU - Goldstein, David B.
AU - Anikster, Yair
N1 - Publisher Copyright:
© 2018 Elsevier Masson SAS
PY - 2019/1
Y1 - 2019/1
N2 - 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 involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood. We report herein two unrelated patients of Turkish/Lebanese Jewish and Ashkenazi Jewish descent, each presenting with distinct clinical challenges and subsequently distinct diagnostic odysseys leading to their molecular diagnosis. These illustrative clinical descriptions underscore the wide phenotypic variability of HCS, and further contribute to the current knowledge regarding this rare entity.
AB - 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 involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood. We report herein two unrelated patients of Turkish/Lebanese Jewish and Ashkenazi Jewish descent, each presenting with distinct clinical challenges and subsequently distinct diagnostic odysseys leading to their molecular diagnosis. These illustrative clinical descriptions underscore the wide phenotypic variability of HCS, and further contribute to the current knowledge regarding this rare entity.
KW - Hajdu Cheney syndrome
KW - NOTCH2
KW - Phenotypic variability
UR - http://www.scopus.com/inward/record.url?scp=85046828219&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2018.04.015
DO - 10.1016/j.ejmg.2018.04.015
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C2 - 29698804
AN - SCOPUS:85046828219
SN - 1769-7212
VL - 62
SP - 35
EP - 38
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 1
ER -