Ontology highlight
ABSTRACT:
SUBMITTER: Swan L
PROVIDER: S-EPMC6215579 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Swan L L Gole G G Sabesan V V Cardinal J J Coman D D
Case reports in genetics 20181021
Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe manifestations of HCS in whom congenital glaucoma was a significant early feature, which has not been reported to date. HCS cases reported to date have involved truncating mutations in exon 34 of <i>NOTCH ...[more]