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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

New clinical findings in oculo-ectodermal syndrome.

We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.[1]


  1. New clinical findings in oculo-ectodermal syndrome. Silengo, M., Lerone, M., Seri, M., Priolo, M., Jarre, L. Clin. Dysmorphol. (2000) [Pubmed]
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