title: Short stature in child with early-onset diabetes.
abstract: We present a girl who initially presented at 12 weeks of age with antibody negative diabetes. Genetic screening for common mutations of monogenic diabetes was negative. She was noted to have short stature at 8 years of age (height <0.4 centile), as well as overlapping toes and distal abnormalities of her fingers. On reevaluation, further investigation revealed an EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. This case highlights the importance of close follow up of patients with neonatal diabetes for the development of syndromic features that may lead to a unifying diagnosis.
authors: Department of Paediatric Endocrinology, Children's University Hospital, Temple Street, Dublin, Ireland.
authors: C P
authors: CP
authors: Hawkes
authors: S M
authors: SM
authors: McGlacken-Byrne
authors: N P
authors: NP
authors: Murphy
mesh_terms: D002648:Child; D057210:Delayed Diagnosis; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D019892:eIF-2 Kinase / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C460640:EIF2AK3 protein, human; D019892:eIF-2 Kinase
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