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PubMed · 10649796

New clinical findings in oculo-ectodermal syndrome.

M Silengo·M Lerone·M Seri·M Priolo·L Jarre
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Abstract

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.

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Abnormalities, MultipleChild, PreschoolEctodermEctodermal DysplasiaHairHumansIntellectual DisabilityMaleSeizuresSkullStrabismusSyndromeCase ReportsJournal Article

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M Silengo, M Lerone, M Seri, M Priolo, L Jarre. 2000. New clinical findings in oculo-ectodermal syndrome.. https://doi.org/10.1097/00019605-200009010-00008

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