An abnormal development of the forebrain, holoprosencephaly, is the most common cranial abnormality in infants with Trisomy 13. The embryology and implications of holoprosencephaly are described.

胰岛素耐量试验（ITT）是CAI诊断金标准，用胰岛素诱发低血糖导致HPA轴的激活，评价垂体前叶功能，可同时进行GH评估。方法是基线和静脉注射0.1 U/kg常规胰岛素后15、30、45、60、90和120 ...

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However, a 300 kb deletion of 18p11.31, including the TGIF1 gene, was identified and is likely the cause of the holoprosencephaly seen in the fetus.

Among associated malformations, facial clefts and cardiac defects are the most common ones (each about 30% of infants with associated malformations), followed by anophthalmia or microphthalmia (14%), ...

Diabetes is a leading cause of global mortality and disability, and its economic burden is substantial. This Review focuses on type 2 diabetes, which makes up 90–95% of all diabetes cases. Type 2 ...

5 The prevalence of FCD ranges from 5% to 25%.6 PSIS is associated with a wide range of midline defects, including septo-optic dysplasia, characterised by septogenesis, agenesis of the corpus callosum ...

The Snelling-Smith family, from Basildon, have faced a torrid three weeks with three of their children spending Christmas in intensive care ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...