Literature DB >> 1756608

Nasopalpebral lipoma-coloboma syndrome.

A N Akarsu1, B S Sayli.   

Abstract

An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.

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Year:  1991        PMID: 1756608     DOI: 10.1111/j.1399-0004.1991.tb03106.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  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 2.  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

3.  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
  3 in total

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