This study aimed to identify the ocular features of Turkish children born with this deletion syndrome. Sixteen children were reviewed (seven female and nine male) aged four months to 18 years. Two children died before the age of one year. All children had facial dysmorphism and retardation in neurodevelopment milestones. History of recurrent respiratory tract infections was noted in 93.7%. Eleven had velopharyngeal insufficiency. Nine had hypoparathyroidism, congenital cardiac disease and long-term infection; five had extremity abnormalities; four had urogenital anomalies and pathological short stature; three had history of bone fractures and obesity; and two had hypoparathyroidism. All had at least one ocular abnormality including increased tortuosity of retinal vasculature, narrow palpebral fissure, eyelid hooding, posterior embryotoxon, telecanthus, etc. Refractive errors were found in 11 patients and strabismus in six. The authors report a wide range of ocular abnormalities and recommend that patients need comprehensive eye examination for appropriate treatment and follow-up.
22q11.2 deletion syndrome
Reviewed by Fiona Rowe
Ocular findings in children with 22q11.2 deletion syndrome.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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