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Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
Joint Authors
Swan, L.
Coman, D.
Gole, G.
Sabesan, V.
Cardinal, J.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-10-21
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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 NOTCH2 upstream the PEST domain that lead to the development of a truncated and stable NOTCH2 protein which upregluates notch signaling.
We describe a hitherto undescribed missense mutation that is predicted to be pathogenic, with functional characterization remaining to be performed.
Serpentine fibula-polycystic kidney syndrome (SFPKS) is allelic to HCS and commonly associated with missense NOTCH2 mutations.
Our patient provides new ophthalmological manifestations of HCS and provides insight into the potential role of notch signaling in the anterior chamber development.
American Psychological Association (APA)
Swan, L.& Gole, G.& Sabesan, V.& Cardinal, J.& Coman, D.. 2018. Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1143302
Modern Language Association (MLA)
Swan, L.…[et al.]. Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Case Reports in Genetics No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1143302
American Medical Association (AMA)
Swan, L.& Gole, G.& Sabesan, V.& Cardinal, J.& Coman, D.. Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1143302
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143302