Imai T, Hattori H, Miyazaki M, Higuchi Y, Adachi S, Nakahata T
Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan.
Am J Med Genet. 2001 Apr 22;100(2):152-5. doi: 10.1002/ajmg.1231.
We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain.
我们描述了一名患有科芬-西里斯综合征的5个月大男婴，即所谓的丹迪-沃克变异型（小脑蚓部发育不全伴第四脑室囊性扩张，但后颅窝无增大），以及胼胝体部分发育不全。在科芬-西里斯综合征中曾有丹迪-沃克畸形和巨大枕大池的报道，但未提及丹迪-沃克变异型。我们所描述的婴儿中存在丹迪-沃克变异型，这证实了丹迪-沃克复合体的完整连续谱可出现在科芬-西里斯综合征中。该综合征尚未明确的基因可能与后脑发育有关。
