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

• Published in: American journal of medical genetics. Part A Vol. 161A; no. 6; pp. 1470 - 1474
• Main Authors: Chacon-Camacho, Oscar F., Lopez-Martinez, Monica S., Vázquez, Johanna, Nava-Castañeda, Angel, Martin-Biasotti, Fernando, Piña-Aguilar, Raul E., Iñiguez-Soto, Marisol, Acosta-García, Job, Zenteno, Juan C.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.06.2013; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - pathology; Coloboma - diagnostic imaging; Coloboma - pathology; Computed tomography; craniofacial syndrome; Eyelid Neoplasms - diagnostic imaging; Eyelid Neoplasms - pathology; Eyelids - abnormalities; Eyelids - diagnostic imaging; Female; hamartoma; Hamartoma - diagnostic imaging; Hamartoma - pathology; Humans; Infant; Karyotyping; lipoma; Lipoma - diagnostic imaging; Lipoma - pathology; nasopalpebral lipoma-coloboma syndrome; Radiography; Smooth Muscle Tumor - diagnostic imaging; Smooth Muscle Tumor - pathology; telechantus
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.35916

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.