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Am J Med Genet A ; 161A(6): 1470-4, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23636874

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.


Subject(s)
Abnormalities, Multiple/diagnostic imaging , Coloboma/diagnostic imaging , Eyelid Neoplasms/diagnostic imaging , Hamartoma/diagnostic imaging , Lipoma/diagnostic imaging , Smooth Muscle Tumor/diagnostic imaging , Abnormalities, Multiple/pathology , Coloboma/pathology , Eyelid Neoplasms/pathology , Eyelids/abnormalities , Eyelids/diagnostic imaging , Female , Hamartoma/pathology , Humans , Infant , Karyotyping , Lipoma/pathology , Radiography , Smooth Muscle Tumor/pathology
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