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

Research output: Contribution to journalArticle

4 Citations (Scopus)

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

Fingerprint

Lipoma
Eyelids
Coloboma
Tomography
Nasopalpebral lipoma coloboma syndrome
Telecanthus

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., ... 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

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

In: American Journal of Medical Genetics. Part A, Vol. 161, No. 6, 06.2013, p. 1470-1474.

Research output: Contribution to journalArticle

Chacon-Camacho, OF, Lopez-Martinez, MS, Vázquez, J, Nava-Castañeda, A, Martin-Biasotti, F, Piña-Aguilar, RE, Iñiguez-Soto, M, Acosta-García, J & Zenteno, JC 2013, 'Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case', American Journal of Medical Genetics. Part A, vol. 161, no. 6, pp. 1470-1474. https://doi.org/10.1002/ajmg.a.35916
Chacon-Camacho OF, Lopez-Martinez MS, Vázquez J, Nava-Castañeda A, Martin-Biasotti F, Piña-Aguilar RE et al. Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. American Journal of Medical Genetics. Part A. 2013 Jun;161(6):1470-1474. https://doi.org/10.1002/ajmg.a.35916
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. / Nasopalpebral lipoma-coloboma syndrome : clinical, radiological, and histopathological description of a novel sporadic case. In: American Journal of Medical Genetics. Part A. 2013 ; Vol. 161, No. 6. pp. 1470-1474.
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