Gonzalez-del Angel A, Carnevale A, Takenaga R
Department of Genetics, Instituto Nacional de Pediatría, Mexico, D.F.
Am J Med Genet. 1992 Dec 1;44(6):786-9. doi: 10.1002/ajmg.1320440613.
We report on a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old girl had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of occipital bone, while the mother showed a complete ossified cranial vault with flat posterior parietal region and prominent occiput. Both had a similar face characterized by frontal bossing, hypertelorism, downward slant of palpebral fissures, flat nasal bridge, and short midface. On reviewing the literature, we concluded that these cases may be a dominant transmitted ossification defect with characteristic face, different from the cranium bifidum-parietal foramina entity.
我们报告了一名患有颅顶膜内骨化延迟的女孩及其母亲。这名11个月大的女孩有一个巨大的骨化缺损,累及顶骨、颞骨鳞部和枕骨顶间区域,而其母亲的颅顶完全骨化,顶叶后部区域扁平,枕部突出。两人都有相似的面容,特征为额部隆起、眼距增宽、睑裂向下倾斜、鼻梁扁平以及中面部短小。在查阅文献后,我们得出结论,这些病例可能是一种具有特征性面容的显性遗传骨化缺陷,不同于颅裂-顶骨孔实体。