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日本人类胎儿和新生儿尸检人群中的颅面及口腔畸形。

Craniofacial and oral malformations in an autopsy population of Japanese human fetuses and newborns.

作者信息

Akimoto N, Ikeda T, Satow Y, Lee J Y, Okamoto N

出版信息

J Craniofac Genet Dev Biol Suppl. 1986;2:213-33.

PMID:3491114
Abstract

A review of the autopsy records of the Department of Pathology of Nagasaki University and the Department of Geneticopathology of Hiroshima University from 1944 through 1982 revealed that during this period there were 11,050 cases of fetuses and newborns, including 432 cases with craniofacial and oral malformations and 22 cases with amniogenous malformations. Among the cranial malformations, there were 202 (46.8%) anencephaly cases, 38 (8.8%) holoprosencephaly, 28 (6.48%) hydrocephaly, 27 (6.25%) meningoencephalocele, and 13 other cranial malformations (seven microcephaly and two each of macrocephaly, dolichocephaly, and iniencephaly). Among the oral malformations, there were 25 (5.78%) cleft lip cases, 23 (5.32%) cleft palate, and 76 (17.6%) cleft lip and palate. Among the facial malformations, there were 12 (2.78%) anomicrophthalmia cases, 37 (8.56%) ear malformations, 15 (3.47%) micrognathia, and 8 (1.85%) nose malformations. One cranial malformation was found that was complicated with anencephaly and holoprosencephaly. Of 307 cranial malformations, 38 (12.4%) were complicated with oral malformations and 4 (4.6%) with facial malformations. Among the 124 cases of oral malformations, 38 (30.6%) were complicated with cranial malformations. The complicating cranial malformations were anencephaly in 16 cases, holoprosencephaly in seven, hydrocephaly in six, meningoencephalocele in seven, other cranial malformations in two, and with facial malformations in 19 cases. Among the 72 cases of facial malformations, 14 were complicated with cranial malformations and 19 with oral malformations. Four cases showed three or more cranial, facial, and/or oral malformations at the same time. Recently, experimental embryological studies have shown that the neural crest cell-derived mesectoderm participates largely in the morphogenesis of the face and the cardiovascular system. It may be said that neural crest cells are deeply involved in the teratogenesis.

摘要

对长崎大学病理学系和广岛大学遗传病理学系1944年至1982年的尸检记录进行回顾发现,在此期间有11050例胎儿和新生儿,其中432例患有颅面和口腔畸形,22例患有羊源性畸形。在颅骨畸形中,无脑儿病例有202例(46.8%),前脑无裂畸形38例(8.8%),脑积水28例(6.48%),脑膜脑膨出27例(6.25%),还有13例其他颅骨畸形(7例小头畸形,大头畸形、长头畸形和枕部脊柱裂畸形各2例)。在口腔畸形中,唇裂病例有25例(5.78%),腭裂23例(5.32%),唇腭裂76例(17.6%)。在面部畸形中,小眼畸形病例有12例(2.78%),耳部畸形37例(8.56%),小颌畸形15例(3.47%),鼻畸形8例(1.85%)。发现1例颅骨畸形合并无脑儿和前脑无裂畸形。在307例颅骨畸形中,38例(12.4%)合并口腔畸形,4例(4.6%)合并面部畸形。在124例口腔畸形中,38例(30.6%)合并颅骨畸形。合并的颅骨畸形中,无脑儿16例,前脑无裂畸形7例,脑积水6例,脑膜脑膨出7例,其他颅骨畸形2例,合并面部畸形19例。在72例面部畸形中,14例合并颅骨畸形,19例合并口腔畸形。4例同时出现三种或更多的颅骨、面部和/或口腔畸形。最近,实验胚胎学研究表明,神经嵴细胞衍生的中外胚层在很大程度上参与面部和心血管系统的形态发生。可以说神经嵴细胞与致畸作用密切相关。

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Craniofacial and oral malformations in an autopsy population of Japanese human fetuses and newborns.日本人类胎儿和新生儿尸检人群中的颅面及口腔畸形。
J Craniofac Genet Dev Biol Suppl. 1986;2:213-33.
2
Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly.端脑小头畸形:颅面解剖结构以及与前脑无裂畸形和无脑畸形的形态学比较。
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