title: Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.
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.
authors: Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
authors: R P
authors: RP
authors: Dias
authors: Department of Child Health, King's College Hospital, London, SE5 9RS, UK.
authors: C R
authors: CR
authors: Buchanan
authors: Department of Neurosurgery, Kings College Hospital, London, SE5 9RS, UK.
authors: N
authors: N
authors: Thomas
authors: Department of Paediatrics, St John's Hospital, Chelmsford, Essex, CM2 9BG, USA.
authors: S
authors: S
authors: Lim
authors: Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
authors: G
authors: G
authors: Solanki
authors: Department of Neuroradiology, Kings College Hospital, London, SE5 9RS, UK.
authors: S E J
authors: SE
authors: Connor
authors: Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.|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.
authors: T G
authors: TG
authors: Barrett
authors: Department of Child Health, King's College Hospital, London, SE5 9RS, UK. ritikakapoor@nhs.net.
authors: R R
authors: RR
authors: Kapoor
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D055815:Young Adult; D019892:eIF-2 Kinase / Q000235:genetics
chemical_list: C460640:EIF2AK3 protein, human; D019892:eIF-2 Kinase