title: New clinical findings in oculo-ectodermal syndrome.
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.
authors.affiliation: Dipartimento di Scienze Pediatriche e dell'Adolescenza, Universita' di Torino, Italy. silengo@pediatria.unito.it
authors.forename: M
authors.initials: M
authors.lastname: Silengo
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: M
authors.initials: M
authors.lastname: Priolo
authors.forename: L
authors.initials: L
authors.lastname: Jarre
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D004475:Ectoderm / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000473:pathology; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D012640:Seizures / Q000473:pathology; D012886:Skull / Q000002:abnormalities; D013285:Strabismus / Q000473:pathology*; D013577:Syndrome