Cargando…
Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report
The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas,...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2023
|
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332910/ https://www.ncbi.nlm.nih.gov/pubmed/37435343 http://dx.doi.org/10.1055/s-0043-1768796 |
_version_ | 1785070538226401280 |
---|---|
author | Cheruvu, Ved Prakash Rao Khan, Manal M. Arora, Madhuri Chaudary, Vikas |
author_facet | Cheruvu, Ved Prakash Rao Khan, Manal M. Arora, Madhuri Chaudary, Vikas |
author_sort | Cheruvu, Ved Prakash Rao |
collection | PubMed |
description | The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas, broad forehead, widow's peak, abnormal eyebrow pattern, telecanthus, broad nasal bridge, maxillary hypoplasia, and ophthalmological abnormalities. We report a case of a milder variant of the nasopalpebral lipoma-coloboma syndrome that we have termed “nasopalpebral lipoma sine coloboma syndrome.” Such a milder variant is not reported hitherto in the literature. We also describe the surgical correction of the deformity in a case that presented in adulthood, with a satisfactory and pleasing aesthetic outcome. |
format | Online Article Text |
id | pubmed-10332910 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103329102023-07-11 Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report Cheruvu, Ved Prakash Rao Khan, Manal M. Arora, Madhuri Chaudary, Vikas Indian J Plast Surg The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas, broad forehead, widow's peak, abnormal eyebrow pattern, telecanthus, broad nasal bridge, maxillary hypoplasia, and ophthalmological abnormalities. We report a case of a milder variant of the nasopalpebral lipoma-coloboma syndrome that we have termed “nasopalpebral lipoma sine coloboma syndrome.” Such a milder variant is not reported hitherto in the literature. We also describe the surgical correction of the deformity in a case that presented in adulthood, with a satisfactory and pleasing aesthetic outcome. Thieme Medical and Scientific Publishers Pvt. Ltd. 2023-05-19 /pmc/articles/PMC10332910/ /pubmed/37435343 http://dx.doi.org/10.1055/s-0043-1768796 Text en Association of Plastic Surgeons of India. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited. |
spellingShingle | Cheruvu, Ved Prakash Rao Khan, Manal M. Arora, Madhuri Chaudary, Vikas Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report |
title |
Nasopalpebral Lipoma
sine
Coloboma Syndrome—First Case Report
|
title_full |
Nasopalpebral Lipoma
sine
Coloboma Syndrome—First Case Report
|
title_fullStr |
Nasopalpebral Lipoma
sine
Coloboma Syndrome—First Case Report
|
title_full_unstemmed |
Nasopalpebral Lipoma
sine
Coloboma Syndrome—First Case Report
|
title_short |
Nasopalpebral Lipoma
sine
Coloboma Syndrome—First Case Report
|
title_sort | nasopalpebral lipoma
sine
coloboma syndrome—first case report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332910/ https://www.ncbi.nlm.nih.gov/pubmed/37435343 http://dx.doi.org/10.1055/s-0043-1768796 |
work_keys_str_mv | AT cheruvuvedprakashrao nasopalpebrallipomasinecolobomasyndromefirstcasereport AT khanmanalm nasopalpebrallipomasinecolobomasyndromefirstcasereport AT aroramadhuri nasopalpebrallipomasinecolobomasyndromefirstcasereport AT chaudaryvikas nasopalpebrallipomasinecolobomasyndromefirstcasereport |