Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome

H. D. Schworm; K. B. Jedele; E. Holinski; K. Hörtnagel; G. Rudolph; K. P. Boergen; A. Kampik; T. Meitinger

doi:10.1111/j.1399-0004.1996.tb02394.x

Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome

H. D. Schworm, K. B. Jedele, E. Holinski, K. Hörtnagel, G. Rudolph, K. P. Boergen, A. Kampik, T. Meitinger

Ludwig-Maximilians-Universität München

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

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.

Original language	English
Pages (from-to)	393-397
Number of pages	5
Journal	Clinical Genetics
Volume	50
Issue number	5
DOIs	https://doi.org/10.1111/j.1399-0004.1996.tb02394.x
State	Published - Nov 1996
Externally published	Yes

Keywords

Discordant, mosaic
Monozygotic twins
Organoid nevus phacomatosis
Schimmelpenning-Feuerstein-Mims syndrome

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10.1111/j.1399-0004.1996.tb02394.x

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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.",

keywords = "Discordant, mosaic, Monozygotic twins, Organoid nevus phacomatosis, Schimmelpenning-Feuerstein-Mims syndrome",

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year = "1996",

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doi = "10.1111/j.1399-0004.1996.tb02394.x",

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T1 - Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome

AU - Schworm, H. D.

AU - Jedele, K. B.

AU - Holinski, E.

AU - Hörtnagel, K.

AU - Rudolph, G.

AU - Boergen, K. P.

AU - Kampik, A.

AU - Meitinger, T.

PY - 1996/11

Y1 - 1996/11

N2 - 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.

AB - 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.

KW - Discordant, mosaic

KW - Monozygotic twins

KW - Organoid nevus phacomatosis

KW - Schimmelpenning-Feuerstein-Mims syndrome

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Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome

Abstract

Keywords

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