Oscar F. Chacon-Camacho and Monica S. Lopez-Martinez contributed equally to the conduct of this research and are to be considered first authors.
Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case
Version of Record online: 1 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1470–1474, June 2013
How to Cite
2013. Nasopalpebral lipoma-coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case. Am J Med Genet Part A 161A:1470–1474., , , , , , , , .
- Issue online: 22 MAY 2013
- Version of Record online: 1 MAY 2013
- Manuscript Accepted: 1 FEB 2013
- Manuscript Received: 11 DEC 2012
- nasopalpebral lipoma-coloboma syndrome;
- craniofacial syndrome;
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.