Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L
Centre for Human Genetics, Liège University, Belgium.
Am J Med Genet. 1992 Jan 15;42(2):180-3. doi: 10.1002/ajmg.1320420209.
We report on a stillborn boy with frontonasal malformation (Sedano-Jiràsek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic.
我们报告了一名死产男婴，患有额鼻畸形（Sedano-Jiràsek D型 - DeMyer I型），伴有脑膨出、枕部脑膜膨出和足部轴前多指畸形。这种额鼻发育异常的形式此前在其他一些病例中也有记载，这些病例伴有轴后多指畸形、胫骨发育不全、眼球表层皮样囊肿、枕部脑膨出、胼胝体发育不全和Dandy-Walker畸形等各种不同组合。大多数病例为散发性。
