New clinical findings in oculo-ectodermal syndrome

We report a 2-year-old male with aplasia cutis congenita of the scalp, epib ulbar 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 thi s rare entity. Our case further expands the clinical spectrum of the syndro me to include mental retardation, seizures and microscopic hair changes. Cl in Dysmorphol 9:39-41 (C) 2000 Lippincott Williams & Wilkins.