Branchio-oculo-facial syndrome (Q94130): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Síndrome brânquio-óculo-facial (BOFS) é uma síndrome genética caracterizada por baixo peso ao nascer e retardo de crescimento, fendas branquiais bilaterais que podem ser hemangiomatosas, às vezes com lesões cutâneas lineares atrás das orelhas (lesões "semelhantes a queimaduras"), estrabismo congênito, ductos nasolacrimais obstruídos, uma ponte nasal larga com uma ponta nasal achatada, um lábio superior protuberante com um filtro anormalmente largo e proeminente e boca cheia. | |||
| description / en | description / en | ||
Branchio-oculo-facial syndrome (BOFS) is a genetic syndrome characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. | |||
Revision as of 09:14, 16 August 2026
Branchio-oculo-facial syndrome (BOFS) is a genetic syndrome characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1471530044 |
||
| English | Branchio-oculo-facial syndrome |
Branchio-oculo-facial syndrome (BOFS) is a genetic syndrome characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. |
