Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case

Oscar F. Chacon-Camacho, 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

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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.

Original languageEnglish
Pages (from-to)1470-1474
Number of pages5
JournalAmerican Journal of Medical Genetics. Part A
Volume161
Issue number6
Early online date1 May 2013
DOIs
Publication statusPublished - Jun 2013

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Keywords

  • nasopalpebral lipoma-coloboma syndrome
  • lipoma
  • craniofacial syndrome
  • telechantus
  • hamartoma

Cite this

Chacon-Camacho, O. F., Lopez-Martinez, M. S., Vázquez, J., Nava-Castañeda, A., Martin-Biasotti, F., Piña-Aguilar, R. E., Iñiguez-Soto, M., Acosta-García, J., & Zenteno, J. C. (2013). Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. American Journal of Medical Genetics. Part A, 161(6), 1470-1474. https://doi.org/10.1002/ajmg.a.35916