Literature DB >> 7864039

Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome.

J Gardner1, D Viljoen.   

Abstract

We have investigated 2 young South African girls with aplasia cutis congenita, epibulbar dermoids, and strabismus. This unique association of anomalies was first documented in two unrelated boys by Toriello et al. [1993: Am. J. Med. Genet. 45:764-766]. Our clinical and histological findings are markedly similar, and we think this to be the second report of individuals with this rare syndrome.

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Year:  1994        PMID: 7864039     DOI: 10.1002/ajmg.1320530403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.

Authors:  Fajish Habib; Mahmoud F Elsaid; Khalid Yacout Salem; Khalid Omer Ibrahim; Khalid Mohamed
Journal:  Qatar Med J       Date:  2014-12-09

2.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

3.  Ocular manifestations of ectodermal dysplasia.

Authors:  Daphna Landau Prat; William R Katowitz; Alanna Strong; James A Katowitz
Journal:  Orphanet J Rare Dis       Date:  2021-05-01       Impact factor: 4.303

  3 in total

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