New clinical findings in oculo-ectodermal syndrome
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Updated: Nov 7, 2026

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development
Published on: March 24, 2011
1Dipartimento di Scienze Pediatriche e dell'Adolescenza, Universita' di Torino, Italy. silengo@pediatria.unito.it
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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