CLINICAL REPORT Nasopalpebral Lipoma-Coloboma Syndrome: Clinical, Radiological, and Histopathological Description of a Novel Sporadic Case Oscar F. Chacon-Camacho, 1 Monica S. Lopez-Martinez, 2 Johanna Va ´zquez, 3 AngelNava-Castan˜eda, 4 Fernando Martin-Biasotti, 5 Raul E. Pin˜a-Aguilar, 2 Marisol In ˜iguez-Soto, 4 Job Acosta-Garcı ´a, 5 and Juan C. Zenteno 1,6 * 1 Department of Genetics, Institute of Ophthalmology “Conde de Valenciana,”, Mexico City, Mexico 2 Department of Genetics, Centro Me ´dico Nacional “20 de Noviembre,” ISSSTE, Mexico City, Mexico 3 Departamento de Estomatologia Pediatrica, Hospital de Especialidades Pediatricas, Tuxtla Gutierrez-Chiapas, Mexico 4 Department of Oculoplastics, Institute of Ophthalmology “Conde de Valenciana,”, Mexico City, Mexico 5 Department of Radiology and Imaging, Institute of Ophthalmology “Conde de Valenciana,”, Mexico City, Mexico 6 Faculty of Medicine, Department of Biochemistry, National Autonomous University of Mexico (UNAM), Mexico City, Mexico Manuscript Received: 11 December 2012; Manuscript Accepted: 1 February 2013 Nasopalpebral lipoma-coloboma syndrome is an extremely un- common autosomal dominant condition characterized by con- genital 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 de- scribed. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma. Ó 2013 Wiley Periodicals, Inc. Key words: nasopalpebral lipoma-coloboma syndrome; lipoma; craniofacial syndrome; telechantus; hamartoma INTRODUCTION Nasopalpebral lipoma-coloboma syndrome (OMIM%167730) is an extremely uncommon autosomal dominant disease character- ized by bilateral congenital nasopalpebral lipomas, bilateral upper and lower eyelid colobomata, broad forehead, widow’s peak, flaring of medial eyebrows, telecanthus, and maxillary hypo- plasia [Penchaszadeh et al., 1982]. Additional features may include displaced or aplastic lacrimal punctae, persistent epiphora, aberrant eyelashes, conjunctival hyperemia, corneal and lens opacities, and divergent strabismus [Penchaszadeh et al., 1982]. This rare syn- drome was first described by Penchaszadeh et al. [1982], and to date only two familial and three sporadic cases have been reported [Penchaszadeh et al., 1982; Akarsu and Sayli, 1991; Bock-Kunz et al., 2000; Moreira Gonzalez and Jackson, 2003; Babu et al., 2011]. The etiology is unknown, but it has been hypothesized that a migration defect of the neural crest cells causes abnormal develop- ment of the craniofacial anatomy. In this work, the clinical, radiological, and histopathological features of an additional case of nasopalpebral lipoma-coloboma syndrome are reported. CLINICAL REPORT A 2-month-old Mexican female was referred to our hospital due to bilateral congenital eyelid malformation. She was the sixth child of nonconsanguineous and unaffected parents. Her mother was 29 and How to Cite this Article: Chacon-Camacho OF, Lopez-Martinez MS, Va ´zquez J, Nava-Castan ˜eda A, Martin- Biasotti F, Pin ˜a-Aguilar RE, In ˜iguez-Soto M, Acosta-Garcı´a J, Zenteno JC. 2013. Nasopalpebral lipoma-coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case. Am J Med Genet Part A 9999:1–5. Oscar F. Chacon-Camacho and Monica S. Lopez-Martinez contributed equally to the conduct of this research and are to be considered first authors. Ã 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 Article first published online in Wiley Online Library (wileyonlinelibrary.com): 00 Month 2013 DOI 10.1002/ajmg.a.35916 Ó 2013 Wiley Periodicals, Inc. 1