Uras N, Sandal G, Oguz S, Aydemir O, Erdeve O, Dilmen U
Division of Neonatology, Zekai Tahir Burak Women's Education and Research Hospital, Ankara, Turkey.
Genet Couns. 2009;20(3):243-7.
Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe the findings in a Turkish newborn, presumed to be another example of the Toriello-Carey syndrome, which extends the phenotype of the syndrome.
一名土耳其新生儿患托列洛 - 凯里综合征:托列洛 - 凯里综合征的特征为胼胝体发育不全、眼距增宽、睑裂短小、鼻小且鼻孔前倾、下颌后缩、耳部异常、喉部和心脏畸形、短指畸形以及肌张力减退。我们描述了一名土耳其新生儿的检查结果,推测其为托列洛 - 凯里综合征的又一病例,这扩展了该综合征的表型。