Kjaer I, Keeling J, Russell B, Daugaard-Jensen J, Fischer Hansen B
Department of Orthodontics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Denmark.
Am J Med Genet. 1997 Dec 31;73(4):387-92. doi: 10.1002/(sici)1096-8628(19971231)73:4<387::aid-ajmg3>3.0.co;2-l.
In this study we analyzed palate structure in holoprosencephaly and correlated it with the facial malformations. Eleven human holoprosencephalic fetuses (three cyclopic, two ethmocephalic, one cebocephalic, four with median cleft lip, and one with short philtrum) at 17-23 weeks of gestation and three children (age 2 1/2, 6 and 7 years) with a single central incisor were studied. Photographic and radiographic methods were used. We found that in holoprosencephaly palate structure is abnormal. The severity of this malformation decreases with decreasing severity of facial malformation. Thus, the study shows a close relationship between the facial and the palatal malformation. In all phenotypes the premaxillary area is malformed. From this region, a fan-shaped field along the midpalatal suture is involved in all facial phenotypes, the fan being broadest in cyclopia and narrowest in the short philtrum malformation. A similar fan-shaped field can be discerned in the face, where the broadest fan also indicates the greatest severity with cyclopia, and the narrowest fan the least severe median lip malformation. In the palate field, the anteroposterior furrows seemingly demarcate the field. The findings may be of importance for the future evaluation of palatal malformations in children.
在本研究中，我们分析了前脑无裂畸形中的腭部结构，并将其与面部畸形相关联。研究了11例妊娠17 - 23周的人类前脑无裂畸形胎儿（3例独眼畸形、2例筛骨脑畸形、1例鼻独眼畸形、4例正中唇裂和1例人中短）以及3例有一颗中央门牙的儿童（年龄分别为2岁半、6岁和7岁）。采用了摄影和放射学方法。我们发现，在前脑无裂畸形中，腭部结构异常。这种畸形的严重程度随着面部畸形严重程度的降低而减轻。因此，该研究表明面部畸形与腭部畸形之间存在密切关系。在所有表型中，上颌前部区域均发育异常。在所有面部表型中，从该区域沿着腭中缝有一个扇形区域受累，该扇形在独眼畸形中最宽，在人中短畸形中最窄。在面部也可辨别出类似的扇形区域，其中最宽的扇形也表明独眼畸形的严重程度最高，最窄的扇形表明正中唇畸形的严重程度最低。在腭部区域，前后沟似乎划分了该区域。这些发现可能对未来评估儿童腭部畸形具有重要意义。
