Síndrome de Fraser: relato de caso nas vias lacrimais
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or...
| Authors: | , , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2014 |
| Country: | Brasil |
| Institution: | Universidade Federal de São Paulo (UNIFESP) |
| Repository: | Repositório Institucional da UNIFESP |
| Language: | Portuguese |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/8329 |
| Online Access: | http://dx.doi.org/10.5935/0034-7280.20140028 http://repositorio.unifesp.br/handle/11600/8329 |
| Access Level: | Open access |
| Keyword: | Lacrimal duct obstruction/congenital Dacryocystitis Syndrome Case reports Obstrução dos ductos lacrimais/congênito Dacriocistite Síndrome Relatos de casos |
| Summary: | Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). Child, female, nine month of life, evaluated in the lacrimal setor of Federal University of São Paulo. Child of consanguineous parents. Her physical examination showed total unilateral cryptophthalmos (left side), epiphora (right side) with mucopurulent discharge, depressed nasal bridge, low set ears, atresia of the external auditory canal, prominent labia majora and syndactyly of the fingers and toes. Ocular ultrasonography showed brachycephaly, absence of septu pellucidum prominence of the lateral ventricles, a major bone defect in the skull, the presence of thinning of the mantle tissue of the brain,a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the left eye. |
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