| Literature DB >> 23636874 |
Oscar F Chacon-Camacho1, 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.
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.Entities:
Mesh:
Year: 2013 PMID: 23636874 DOI: 10.1002/ajmg.a.35916
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802