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Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome
H D Schworm1, K B Jedele, E Holinski
1Augenklinik, Ludwig-Maximilians-Universität München, Germany.
Clinical Genetics
|November 1, 1996
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.