Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome.
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.
Schworm
H D
HD
Augenklinik, Ludwig-Maximilians-Universität München, Germany.
Jedele
K B
KB
Holinski
E
E
Hörtnagel
K
K
Rudolph
G
G
Boergen
K P
KP
Kampik
A
A
Meitinger
T
T
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