先天性胫骨前外侧弓形弯曲伴同侧拇趾多指畸形并与脑囊肿相关：一种新的病症？
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
作者信息
Breckpot Jeroen, Thienpont Bernard, Vanhole Christine, Van Rossem Els, Van Schoubroeck Dominique, Fryns Jean-Pierre, Lagae Lieven, Buyse Gunnar, Devriendt Koen
机构信息
Center for Human Genetics, Department of Pediatric Neurology, University Hospital Leuven, Belgium.
出版信息
Clin Dysmorphol. 2009 Oct;18(4):195-200. doi: 10.1097/MCD.0b013e32832d06d7.
PMID:19617820
Abstract
We present two patients with congenital anterolateral bowing of the tibia with polydactyly who had, in addition, cerebral malformations including agenesis of the corpus callosum and a large cerebral cyst. We discuss phenotypic overlap with the acrocallosal syndrome.
摘要
我们报告了两名患有先天性胫骨前外侧弓形弯曲并伴有多指畸形的患者，此外，他们还存在脑畸形，包括胼胝体发育不全和一个大的脑囊肿。我们讨论了与顶胼胝体综合征的表型重叠。
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