Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review
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 th...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/2031701 |
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| author | Cybil S. Stingl Colleen Jackson-Cook Natario L. Couser |
| author_facet | Cybil S. Stingl Colleen Jackson-Cook Natario L. Couser |
| author_sort | Cybil S. Stingl |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3fb374f3bc3043ce9dfa63808a8e5111 |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-3fb374f3bc3043ce9dfa63808a8e51112025-08-20T02:08:04ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/20317012031701Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature ReviewCybil S. Stingl0Colleen Jackson-Cook1Natario L. Couser2Virginia Commonwealth University School of Medicine, Richmond, VA, USADepartment of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USADepartment of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USAThe 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.http://dx.doi.org/10.1155/2020/2031701 |
| spellingShingle | Cybil S. Stingl Colleen Jackson-Cook Natario L. Couser Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review Case Reports in Pediatrics |
| title | Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review |
| title_full | Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review |
| title_fullStr | Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review |
| title_full_unstemmed | Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review |
| title_short | Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review |
| title_sort | ocular findings in the 16p11 2 microdeletion syndrome a case report and literature review |
| url | http://dx.doi.org/10.1155/2020/2031701 |
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