title: Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome.
abstract: The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causative mechanisms, we suggest that a postzygotic dominant lethal mutation in mosaic form may best explain SFM and the discordancy for SFM in these MZ twins.
authors.affiliation: Augenklinik, Ludwig-Maximilians-Universität München, Germany.
authors.forename: H D
authors.initials: HD
authors.lastname: Schworm
authors.forename: K B
authors.initials: KB
authors.lastname: Jedele
authors.forename: E
authors.initials: E
authors.lastname: Holinski
authors.forename: K
authors.initials: K
authors.lastname: Hörtnagel
authors.forename: G
authors.initials: G
authors.lastname: Rudolph
authors.forename: K P
authors.initials: KP
authors.lastname: Boergen
authors.forename: A
authors.initials: A
authors.lastname: Kampik
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D013577:Syndrome; D014430:Twins, Monozygotic