Colombo P, Bianchi G A, Meregalli V
Divisione di Pediatria, Sezione di Neonatologia, USSL 61, Carate Brianzo, Milano.
Minerva Pediatr. 1996 Mar;48(3):105-11.
The authors report the case, non forming part of any known syndrome, of a newborn with encephalocele, high cranial schisis, ocular anomalies, cleft palate and congenital clubfoot. The photographic documentation of the malformations is not possible due to a technical error in taking the photographs (lack of light in the room). Alterations to cerebral nervous tissue were histologically and cytologically characterised by immaturity and block of normal development during the early stages. For this reason the alteration of primary neuro-ectodermal tissue appears to be the initial factor with secondary involvement of anatomically and functionally contiguous fields and tissues, such as cranial bones and the eyes. The alteration of the nervous system resulted in the incapacity of the fetus to make fetal movements, making it vulnerable to extrinsic compression, above all uterine pressure. This led to the adoption of fixed postures with articular blockage most evident in the lower limbs (congenital clubfoot). The pathogenic noxa was not identified.
作者报告了一例不属于任何已知综合征的新生儿病例，该新生儿患有脑膨出、高位颅骨裂、眼部异常、腭裂和先天性马蹄内翻足。由于拍照技术失误（房间光线不足），无法对畸形进行摄影记录。组织学和细胞学检查显示，早期阶段的脑神经组织改变具有不成熟和正常发育受阻的特征。因此，原发性神经外胚层组织的改变似乎是最初因素，随后在解剖学和功能上相邻的区域和组织，如颅骨和眼睛，出现继发性受累。神经系统的改变导致胎儿无法进行胎动，使其易受外部压迫，尤其是子宫压力的影响。这导致胎儿采取固定姿势，关节阻滞在下肢最为明显（先天性马蹄内翻足）。致病因素尚未确定。
