Article
Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.
Journal of medical genetics - 1 Sept 1999
Hoveyda N, Shield J P, Garrett C, Chong W K, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson M H
Abstract excerpt
Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the...
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