Abstract
We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.
Original language | English |
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Journal | European Journal of Medical Genetics |
Volume | 61 |
Issue number | 8 |
Pages (from-to) | 473-477 |
ISSN | 1769-7212 |
DOIs | |
Publication status | Published - Aug 2018 |