Search results for " Eyelid Diseases"
showing 2 items of 2 documents
Frontal sinus osteoma and palpebral abscess: Case report
2005
Osteomas of the paranasal sinuses are slow-growing, benign tumours most frequently found in the frontal sinus with an incidence that varies from 47% to 80% of the cases; there are often no symptoms and they are diagnosed by chance during an x-ray examination. The symptoms are usually headaches and those secondary to ocular or neurological complications. The therapy to be preferred is surgery. The authors describe a case of frontal osteoma complicated by frontal sinusitis and palpebral abscess.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…