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Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case

Authors


  • Oscar F. Chacon-Camacho and Monica S. Lopez-Martinez contributed equally to the conduct of this research and are to be considered first authors.

Correspondence to:

Dr. Juan C. Zenteno, Research Unit, Institute of Ophthalmology, “Conde de Valenciana,” Chimalpopoca 14, Col. Obrera, Mexico City, CP 06800, Mexico.

E-mail: jczenteno@institutodeoftalmologia.org

Abstract

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. © 2013 Wiley Periodicals, Inc.

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