Hoveyda N, Shield J P, Garrett C, Chong W K, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson M H
Department of Paediatrics, Luton and Dunstable Hospital, UK.
J Med Genet. 1999 Sep;36(9):700-4.
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 third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. Prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.
经典型新生儿糖尿病被定义为足月儿出生后六周内出现的高血糖症。小脑发育不全较为罕见。我们报告了一个近亲结婚的家族中出现的三例新生儿糖尿病、小脑发育不全/发育不全以及畸形病例。这种异常组合此前尚未有过描述。其中两例是姐妹，第三例是女性堂妹。遗传模式表明这是一种此前未被描述的常染色体隐性疾病。通过显示小脑缺失和严重的宫内生长受限，有可能对该家族中的这种疾病进行产前诊断。
