关键词: 9p deletion syndrome Craniofacial abnormality Craniosynostosis Germinal matrix haemorrhage Neonatal hyperinsulinemic hypoglycemia Thalamic infarction Ventriculomegaly

Mesh : Abnormalities, Multiple / genetics pathology Chromosome Deletion Chromosome Disorders / genetics pathology Chromosomes, Human, Pair 9 / genetics Humans Hyperinsulinism / genetics pathology Hypoglycemia / genetics pathology Infant Male

来  源:   DOI:10.1016/j.ejmg.2018.03.009

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.
摘要:
我们报告了一个患有9p缺失综合征的小男孩的临床和神经放射学发现,包括丘脑梗塞和生发基质出血以及新生儿高胰岛素性低血糖的新发现。在该患者中发现的低血糖事件和心室肥大以前仅在两名患者中报告过,而丘脑梗死和生发基质出血是新的特征。
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