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European Journal of Pediatrics

, Volume 172, Issue 9, pp 1255–1257 | Cite as

Short stature in child with early-onset diabetes

  • C. P. Hawkes
  • S. M. McGlacken-Byrne
  • N. P. Murphy
Short Communication

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.

Keywords

Diabetes mellitus Bone Genetic diabetes Neonate Short stature Wolcott Rallison syndrome 

Notes

Conflict of interest

The authors have no conflicts of interest to declare.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • C. P. Hawkes
    • 1
  • S. M. McGlacken-Byrne
    • 1
  • N. P. Murphy
    • 1
  1. 1.Department of Paediatric EndocrinologyChildren’s University HospitalDublinIreland

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