title: Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.
abstract: The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.
authors.affiliation: Department of Ophthalmology, University of Gent, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Narbay
authors.forename: F
authors.initials: F
authors.lastname: Meire
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: I
authors.initials: I
authors.lastname: Casteels
authors.forename: E
authors.initials: E
authors.lastname: Devos
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012535:Scalp / Q000002:abnormalities; D013577:Syndrome