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颅面重复畸形(双面畸形)。

Craniofacial duplication (diprosopus).

作者信息

Turpin I M, Furnas D W, Amlie R N

出版信息

Plast Reconstr Surg. 1981 Feb;67(2):139-42.

PMID:7465661
Abstract

No congenital malformation in infants is more profound than anterior craniofacial duplication. The precise term for this rare anomaly is diprosopus, referring to a fetus with a single trunk, normal limbs, and varying degrees of facial duplication. A search of the world literature produced only 16 cases of diprosopus since 1864. Despite the rarity of this anomaly, three such infants were born in the Southern California area during the past year, making this the largest reported series to date. The three infants were born with two distinctly formed faces. Each had four separate eyes, two mouths, two noses, and two ears with a primitive ear or sinus tract at the plane of fusion. In addition, multiple congenital aberrations existed which involved a variety of internal organs. The pathogenesis of diprosopus is not well understood, but environmental stress early in embryologic development has been suggested as a possible factor. The apparent mechanism is a slowing of pregastrulation oxidation with resultant focal developmental arrests.

摘要

婴儿期没有哪种先天性畸形比前颅面部重复畸形更严重。这种罕见异常的确切术语是双面畸形,指的是具有单个躯干、正常四肢以及不同程度面部重复的胎儿。自1864年以来,检索世界文献仅发现16例双面畸形病例。尽管这种异常罕见,但在过去一年中,南加州地区有三名这样的婴儿出生,这是迄今为止报道的最大系列病例。这三名婴儿出生时都有两张明显形成的脸。每个婴儿都有四只独立的眼睛、两张嘴、两个鼻子和两只耳朵,在融合平面处有一个原始耳朵或窦道。此外,还存在涉及多种内部器官的多种先天性畸变。双面畸形的发病机制尚不完全清楚,但胚胎发育早期的环境压力被认为是一个可能的因素。明显的机制是原肠胚形成前氧化减缓,导致局部发育停滞。

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