Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report
作者: Robert HilbrandsKathelijn KeymolenAlex MichotteMiriam MarichalFilip CoolsAnieta GoossensPeter In’t VeldJean De SchepperAndrew HattersleyHarry Heimberg
来源数据库: SJBM BioMed 文献
DOI: 10.1186/s12881-017-0419-2
关键词: PREMANENT NEONATAL DIABETES MELLITUSPANCREAS AGENESISHOLOPROSENCEPHALY
原始语种摘要: Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder. Although the sequences of a selected set of genes related to pancreas agenesis or HPE were wild-type, the patient’s phenotype suggests a genetic defect that emerges early in embryonic development of brain, gallbladder and pancreas. Developmental defects of the pancreas and brain can occur together. Identifying the...
全文获取路径: BMC 
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影响因子:2.536 (2012)

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关键词翻译
关键词翻译
  • agenesis 发育不全
  • gallbladder 胆囊
  • newborn 新生儿