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Orphanet J Rare Dis. 2016 Feb 10;11:14. doi: 10.1186/s13023-016-0397-z.

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

Author information

1
Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
2
Department of Child Health, King's College Hospital, London, SE5 9RS, UK.
3
Department of Neurosurgery, Kings College Hospital, London, SE5 9RS, UK.
4
Department of Paediatrics, St John's Hospital, Chelmsford, Essex, CM2 9BG, USA.
5
Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
6
Department of Neuroradiology, Kings College Hospital, London, SE5 9RS, UK.
7
Centre for Rare Diseases and Personalized Medicine, Institute of Biomedical Research (West), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, B15 2TT, UK.
8
Department of Child Health, King's College Hospital, London, SE5 9RS, UK. ritikakapoor@nhs.net.

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.

PMID:
26860746
PMCID:
PMC4748609
DOI:
10.1186/s13023-016-0397-z
[Indexed for MEDLINE]
Free PMC Article

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