Stingl Cybil S, Jackson-Cook Colleen, Couser Natario L
Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
Case Rep Pediatr. 2020 Apr 20;2020:2031701. doi: 10.1155/2020/2031701. eCollection 2020.
The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Abnormalities of the eye and ocular adnexa are also commonly associated findings seen in individuals with the 16p11.2 microdeletion syndrome, although these ophthalmic manifestations have not been well characterized. We conducted an extensive literature review to highlight the eye features in patients with the 16p11.2 microdeletion syndrome and describe a 5-year-old boy with the syndrome. The boy initially presented with intellectual disability, speech delay, and defiant behavior; diagnoses of attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) were established. He had a Chiari malformation type 1. His ophthalmic features included strabismus, hyperopia, and ptosis, and a posterior embryotoxon was present bilaterally. From a systematic review of prior reported cases, the most common eye and ocular adnexa findings observed were downslanting palpebral fissures, deep-set eyes, ptosis, and hypertelorism.
复发性16p11.2微缺失的特征是发育迟缓以及一系列先天性异常。已有充分报道表明，患有这种约593 kb间质性缺失的个体患自闭症谱系障碍（ASD）的易感性增加。眼睛和眼附属器异常也是16p11.2微缺失综合征患者常见的相关表现，尽管这些眼部表现尚未得到充分描述。我们进行了广泛的文献综述，以突出16p11.2微缺失综合征患者的眼部特征，并描述一名患有该综合征的5岁男孩。该男孩最初表现为智力残疾、语言发育迟缓及违抗行为；确诊患有注意力缺陷多动障碍（ADHD）和对立违抗障碍（ODD）。他患有1型Chiari畸形。他的眼部特征包括斜视、远视和上睑下垂，双侧均有后胚胎环。通过对先前报道病例的系统回顾，观察到最常见的眼睛和眼附属器表现为睑裂向下倾斜、眼深陷、上睑下垂和眼距增宽。
