Volpe P, Campobasso G, De Robertis V, Rembouskos G
Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy.
Prenat Diagn. 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208.
Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies. Corpus callosum agenesis and septo-optic dysplasia are disorders of prosencephalic midline development, and usually have less severe presentations but still, affected subjects may suffer from neurodevelopmental retardation, and/or endocrinologic and visual disorders. In this article we report an up-to-date of pathogenesis, prenatal sonographic findings, differential diagnosis and prognosis of the aforementioned anomalies.
异常的腹侧诱导可能导致前脑结构的形成、分裂及中线发育障碍。全前脑畸形是前脑分裂受损的一种发育领域缺陷。根据畸形的严重程度，全前脑畸形最广泛接受的分类包括三种主要类型：无叶型、半叶型和叶型。以大脑半球沿中线融合为特征的脑畸形通常与面部异常相关。胼胝体发育不全和隔-视神经发育不良是前脑中线发育障碍，通常表现较轻，但受累个体仍可能患有神经发育迟缓及/或内分泌和视觉障碍。在本文中，我们报告了上述异常的发病机制、产前超声检查结果、鉴别诊断及预后的最新情况。
