Institute of Pediatrics, Clinical Genetics Center, University of Debrecen, Hungary.
Am J Med Genet A. 2011 Mar;155A(3):634-7. doi: 10.1002/ajmg.a.33837. Epub 2011 Feb 22.
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome.
我们报告了一例 SBBYS 型眼睑裂狭小-智力低下综合征的女性患者。她的主要发现包括明显的发育迟缓、眼睑裂狭小、上睑下垂、腭裂、外耳道狭窄、牙齿小且畸形、甲状腺功能减退、听力障碍和关节受限。我们进行了脑弥散张量磁共振成像（MRI）和追踪检查，结果显示髓鞘形成不当和白质完整性受损。细胞遗传学分析、端粒荧光原位杂交和比较基因组杂交未能发现异常。目前尚不确定 MRI 检查结果是否仅针对该患者，还是属于 SBBYS 综合征的一部分。
