Literature DB >> 17159512

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

Madelena M Martin1, Tai Lockspieler, Anne M Slavotinek.   

Abstract

Oculo-ectodermal syndrome is a rare condition characterized by aplasia cutis and epibulbar dermoids. We present the case of a 6-year-old girl with oculo-ectodermal syndrome, who was found to have an arachnoid cyst by head computed tomography. This is the third case of oculo-ectodermal syndrome with arachnoid cyst reported in the literature, and suggests that arachnoid cyst may be a phenotypic feature of oculo-ectodermal syndrome.

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Year:  2007        PMID: 17159512     DOI: 10.1097/MCD.0b013e328010b7f9

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  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

  1 in total

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