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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,...

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Autores principales: Cheruvu, Ved Prakash Rao, Khan, Manal M., Arora, Madhuri, Chaudary, Vikas
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
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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.
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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
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