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Discordant monozygotic twins with the Schimmelpenning‐Feuerstein‐Mims syndrome
Author(s) -
Schworm H.D.,
Jedele K. B.,
Holinski E.,
Hörtnagel K.,
Rudolph G.,
Boergen K.P.,
Kampik A.,
Meitinger T.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02394.x
Subject(s) - etiology , monozygotic twin , genetics , medicine , dermatology , biology , pathology
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.