title: Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.
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.
authors: Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.
authors: Oscar F
authors: OF
authors: Chacon-Camacho
authors: Monica S
authors: MS
authors: Lopez-Martinez
authors: Johanna
authors: J
authors: Vázquez
authors: Angel
authors: A
authors: Nava-Castañeda
authors: Fernando
authors: F
authors: Martin-Biasotti
authors: Raul E
authors: RE
authors: Piña-Aguilar
authors: Marisol
authors: M
authors: Iñiguez-Soto
authors: Job
authors: J
authors: Acosta-García
authors: Juan C
authors: JC
authors: Zenteno
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D003103:Coloboma / Q000000981:diagnostic imaging* / Q000473:pathology; D005142:Eyelid Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006222:Hamartoma / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008067:Lipoma / Q000000981:diagnostic imaging* / Q000473:pathology; D011859:Radiography; D018235:Smooth Muscle Tumor / Q000000981:diagnostic imaging* / Q000473:pathology