Literature DB >> 23636874

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

Oscar F Chacon-Camacho1, 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.   

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.
Copyright © 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID: 23636874     DOI: 10.1002/ajmg.a.35916

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Diagnosis and treatment of upper eyelid lipoma: A case report.

Authors:  Marta Starnoni; Giorgio De Santis; Roberto Pasini; Massimo Pinelli
Journal:  Am J Ophthalmol Case Rep       Date:  2020-08-18

2.  Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.

Authors:  Oscar F Chacón-Camacho; Nara Sobreira; Jing You; Raul E Piña-Aguilar; Vanessa Villegas-Ruiz; Juan C Zenteno
Journal:  Am J Med Genet A       Date:  2016-05-03       Impact factor: 2.802

Review 3.  Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Authors:  Hatem A Tawfik; Mohamed H Abdulhafez; Yousef A Fouad
Journal:  Ophthalmic Plast Reconstr Surg       Date:  2015 Jan-Feb       Impact factor: 1.746

4.  Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.

Authors:  Tamer Mansour; Sainan Wei; Michael Netzloff; Tarek Mohamed; Brian Schutte; Said A Omar
Journal:  AJP Rep       Date:  2015-05-15
  4 in total

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