Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.
Orphanet J Rare Dis
; 11: 14, 2016 Feb 10.
Article
em En
| MEDLINE
| ID: mdl-26860746
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Diabetes Mellitus Tipo 1
/
Epífises
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
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Child, preschool
/
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Orphanet J Rare Dis
Assunto da revista:
MEDICINA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Reino Unido