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Open Access 01-12-2016 | Letter to the Editor

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

Authors: R. P. Dias, C. R. Buchanan, N. Thomas, S. Lim, G. Solanki, SEJ Connor, T. G. Barrett, R. R. Kapoor

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

Abstract

Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).

We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise.

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Title: Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
Authors: R. P. Dias
C. R. Buchanan
N. Thomas
S. Lim
G. Solanki
SEJ Connor
T. G. Barrett
R. R. Kapoor
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-016-0397-z

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Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

Abstract

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