Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the correction of lagophthalmos due to leprosy neuritis temporalis muscle transfer (TMT) is used to provide a motor to assist in lid closure. This study of TMT in 51 eyes was carried out to assess the effectiveness of TMT in achieving lid closure and corneal protection. The average lid gap preoperatively on light closure was 7.3 mm which was reduced to 3.2 mm on final follow-up. The average lid gap pre-operatively on tight closure was 5.3 mm which was reduced to 0.4 mm at final follow-up. It is possible to train patients with partial or total anesthesia of the cornea in a visual THINK-BLINK reflex. The common complications encountered were ectropion in 6 eyes (12%) and ptosis in 3 eyes (6%).
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PMID:Temporalis muscle transfer in the correction of lagophthalmos due to leprosy. 912 30

We report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears. One sibling had a cleft palate. Initially, blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected; however, mutation of the FOXL2 gene was not detected. Moreover, the patients' father and paternal grandmother had experienced recurrent episodes of unilateral brachial neuritis and were diagnosed to have hereditary neuralgic amyotrophy (HNA). HNA is a rare, inherited form of brachial neuritis whose phenotypic spectrum may include hypotelorism, cleft palate and other minor dysmorphisms. HNA maps to chromosome 17q25 and is associated with mutations in the SEPT9 gene. After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack. Both children were shown to have inherited the paternal SEPT9 mutation. Wider recognition of HNA as a syndromic disorder may facilitate its diagnosis in affected young persons who may not yet have manifested episodes of brachial neuritis.
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PMID:Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. 1849 87