van Dorp D B, Palan A, Kwee M L, Barth P G, van der Harten J J
Department of Ophthalmology, Free University of Amsterdam, The Netherlands.
Am J Med Genet. 1991 Jul 1;40(1):100-4. doi: 10.1002/ajmg.1320400121.
A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningo-encephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. This is the first male described so far with both coloboma and other midline defects. A detailed autopsy on an affected female fetus from the mother's second pregnancy is presented.
本文描述了一名患有乔伯特综合征的重度智力发育迟缓男童。他存在严重的神经学异常，包括丹迪-沃克畸形、胼胝体发育不全、枕部脑膜脑膨出以及双侧视神经缺损伴球后囊性肿物。这是目前所描述的首例同时患有视神经缺损和其他中线缺陷的男性患者。文中还展示了对母亲第二次妊娠中一名受影响女胎进行的详细尸检情况。
