Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical description of a 12-year-old girl with a number of congenital abnormalities including retarded growth and an asymmetric facies. All the clinical features observed are compatible with the CHARGE association. Ocular anomalies are important bilateral colobomata associated with nystagmus and strabismus. Three among four of the lacrymal canaliculi are missing. This anomaly has not yet been described in the CHARGE syndrome. The discussion refers to all the clinical observations especially the ophthalmological features.
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PMID:[Association of the CHARGE syndrome and imperforation of the lacrymal ducts]. 213 26

The common ocular manifestations of CHARGE syndrome include colobomatous defects in the eye, strabismus, nystagmus, and micropthalmia. Lacrimal drainage anomalies have been rarely reported and to the best of the authors' knowledge, only 5 such cases have been reported earlier. The present case describes CHARGE syndrome associated with bilateral complex congenital nasolacrimal duct obstruction with multiple prior attacks of acute dacryocystitis and left lower punctal agenesis, successfully managed with a right-sided dacryocystorhinostomy and awaiting a left dacryocystorhinostomy.Lacrimal drainage anomalies in CHARGE syndrome include complex CNLDO, punctal agenesis, and acute dacryocystitis.
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PMID:Lacrimal Drainage Anomalies in CHARGE Syndrome: Case Report and Review of Literature. 3159 46