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,...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2023-06-01
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| Series: | Indian Journal of Plastic Surgery |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1768796 |
| _version_ | 1797783594992664576 |
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| author | Ved Prakash Rao Cheruvu Manal M. Khan Madhuri Arora Vikas Chaudary |
| author_facet | Ved Prakash Rao Cheruvu Manal M. Khan Madhuri Arora Vikas Chaudary |
| author_sort | Ved Prakash Rao Cheruvu |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T00:28:06Z |
| format | Article |
| id | doaj.art-73ef60949bcf4d61aa389dccf409772a |
| institution | Directory Open Access Journal |
| issn | 0970-0358 1998-376X |
| language | English |
| last_indexed | 2024-03-13T00:28:06Z |
| publishDate | 2023-06-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | Indian Journal of Plastic Surgery |
| spelling | doaj.art-73ef60949bcf4d61aa389dccf409772a2023-07-11T00:17:51ZengThieme Medical Publishers, Inc.Indian Journal of Plastic Surgery0970-03581998-376X2023-06-01560327627910.1055/s-0043-1768796Nasopalpebral Lipoma sine Coloboma Syndrome—First Case ReportVed Prakash Rao Cheruvu0Manal M. Khan1Madhuri Arora2Vikas Chaudary3Department of Burns and Plastic Surgery, All India Institute of Medical Sciences Bhopal, Bhopal, Madhya Pradesh, IndiaDepartment of Burns and Plastic Surgery, All India Institute of Medical Sciences Bhopal, Bhopal, Madhya Pradesh, IndiaDepartment of Burns and Plastic Surgery, All India Institute of Medical Sciences Bhopal, Bhopal, Madhya Pradesh, IndiaDepartment of Burns and Plastic Surgery, All India Institute of Medical Sciences Bhopal, Bhopal, Madhya Pradesh, IndiaThe 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1768796abnormalitiescolobomalipoma |
| spellingShingle | Ved Prakash Rao Cheruvu Manal M. Khan Madhuri Arora Vikas Chaudary Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report Indian Journal of Plastic Surgery abnormalities coloboma lipoma |
| 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 |
| topic | abnormalities coloboma lipoma |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1768796 |
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