Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old boy had bilateral corneal ulceration with the Goldenhar-Gorlin syndrome. Initially, the patient received subconjunctival and topical antibiotics with minimal effect. With subsequent treatment of atropine, sterile ophthalmic petrolatum ointment, and humidification of the patient's crib, ulcers in both eyes healed in two weeks without further problems. He had a neuroparalytic keratitis with corneal anesthesia and decreased tear production bilaterally. Our evidence suggested that aplasia or hypoplasia of the trigeminal nuclei was the probable cause.
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PMID:Neuroparalytic keratitis in Goldenhar-Gorlin syndrome. 61 77

We report a case of Goldenhar syndrome in a six week old infant. This patient had bilateral peribulbar choristoma, bilateral pre-auricular appendix and left superior palpebral coloboma with severe exposure keratitis. This condition necessitated an emergency surgical eyelid repair. The authors discuss the different clinical manifestations of this syndrome and therapeutic modalities, particularly the surgical treatment of choristoma and palpebral coloboma.
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PMID:[Goldenhar syndrome. Surgical emergency apropos of a case]. 129

Goldenhar syndrome is a rare, presumably inherited condition that has a multifactorial etiopathology that results in disturbances of blastogenesis. The syndrome is characterized by the presence of dermal epibulbar tumors, periauricular appendices, malformed ears, and vertebral anomalies, with occasional occurrence of cardiac, visceral, or central nervous system anomalies. This report describes a case of Goldenhar syndrome in a newborn who presented with all of the classic signs of Goldenhar syndrome associated with the rare occurrence of infectious keratitis and hydrocephalus.
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PMID:Infectious keratitis in a newborn with goldenhar syndrome. 2012 54