摘要
全前腦畸型是一種少見的腦部顏面先天畸型，產前超音波診斷非常簡單，單一腦室與融合視丘是超音波的診斷標準，單一腦室有時會被誤診為水腦症，但是兩者之預後與治療相差甚多，必須詳細鑑別診斷。
並列摘要
Holoprosencephaly is a rare craniofacial anomaly resulting from incomplete division of embryonic prosencephaly or forebrain during the third week of fetal development. Midbrain, pons, medulla and cerebellum that originate from embryonic midbrain and hindbrain are nor-mal in this anomaly. Depending on severity of development arrest, the holoprosencephaly is di-vided into alobar, semilobar and lobar types. The alobar type is most severe from with a common ventricle and absence of cerebral division. Associated facial anomalies of alobar type fall into five groups: cyclopia, cebocephaly, ethmocephaly, median cleft lip with hypotelorism and bi-lateral cleft lip with hypotelorism. The typical craniofacial feature (proboscis, hypotelorism, fused thalamus, a single ven-tricle and absence of medline echo) were all demonstrated well by ultrasound examination at 25th gestational week. The prognosis for alobar holoprosencphaly is uniform poor with most infant dying in first year of life. Early diagnosis and termination of pregnancy is the best obstetric management.
延伸閱讀
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