Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma.
AuthorsOscar F Chacon-Camacho, Monica S Lopez-Martinez, Johanna Vázquez, Angel Nava-Castañeda, Fernando Martin-Biasotti, Raul E Piña-Aguilar, Marisol Iñiguez-Soto, Job Acosta-García, Juan C Zenteno
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 6 Pg. 1470-4 (Jun 2013) ISSN: 1552-4833 [Electronic] United States
PMID23636874 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2013 Wiley Periodicals, Inc.

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