L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosyn...
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Autor*in:	Andrea Accogli [verfasserIn] Stacy Goergen [verfasserIn] Giana Izzo [verfasserIn] Kshitij Mankad [verfasserIn] Karina Krajden Haratz [verfasserIn] Cecilia Parazzini [verfasserIn] Michael Fahey [verfasserIn] Lara Menzies [verfasserIn] Julia Baptista [verfasserIn] Lucia Carpineta [verfasserIn] Domenico Tortora [verfasserIn] Ezio Fulcheri [verfasserIn] Valerio Gaetano Vellone [verfasserIn] Dario Paladini [verfasserIn] Luigina Spaccini [verfasserIn] Valentina Toto [verfasserIn] Claire Trayers [verfasserIn] Liat Ben Sira [verfasserIn] Adi Reches [verfasserIn] Gustavo Malinger [verfasserIn] Vincenzo Salpietro [verfasserIn] Patrizia De Marco [verfasserIn] Myriam Srour [verfasserIn] Federico Zara [verfasserIn] Valeria Capra [verfasserIn] Andrea Rossi [verfasserIn] Mariasavina Severino [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Übergeordnetes Werk:	In: Annals of Clinical and Translational Neurology - Wiley, 2015, 8(2021), 10, Seite 2004-2012
Übergeordnetes Werk:	volume:8 ; year:2021 ; number:10 ; pages:2004-2012

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1002/acn3.51448

Katalog-ID:	DOAJ059766352

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allfields	10.1002/acn3.51448 doi (DE-627)DOAJ059766352 (DE-599)DOAJd39d340140d54e11af25c53ccc7c57e0 DE-627 ger DE-627 rakwb eng RC321-571 RC346-429 Andrea Accogli verfasserin aut L1CAM variants cause two distinct imaging phenotypes on fetal MRI 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing. Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system Stacy Goergen verfasserin aut Giana Izzo verfasserin aut Kshitij Mankad verfasserin aut Karina Krajden Haratz verfasserin aut Cecilia Parazzini verfasserin aut Michael Fahey verfasserin aut Lara Menzies verfasserin aut Julia Baptista verfasserin aut Lucia Carpineta verfasserin aut Domenico Tortora verfasserin aut Ezio Fulcheri verfasserin aut Valerio Gaetano Vellone verfasserin aut Dario Paladini verfasserin aut Luigina Spaccini verfasserin aut Valentina Toto verfasserin aut Claire Trayers verfasserin aut Liat Ben Sira verfasserin aut Adi Reches verfasserin aut Gustavo Malinger verfasserin aut Vincenzo Salpietro verfasserin aut Patrizia De Marco verfasserin aut Myriam Srour verfasserin aut Federico Zara verfasserin aut Valeria Capra verfasserin aut Andrea Rossi verfasserin aut Mariasavina Severino verfasserin aut In Annals of Clinical and Translational Neurology Wiley, 2015 8(2021), 10, Seite 2004-2012 (DE-627)77139649X (DE-600)2740696-9 23289503 nnns volume:8 year:2021 number:10 pages:2004-2012 https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0 kostenfrei https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/toc/2328-9503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2021 10 2004-2012
spelling	10.1002/acn3.51448 doi (DE-627)DOAJ059766352 (DE-599)DOAJd39d340140d54e11af25c53ccc7c57e0 DE-627 ger DE-627 rakwb eng RC321-571 RC346-429 Andrea Accogli verfasserin aut L1CAM variants cause two distinct imaging phenotypes on fetal MRI 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing. Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system Stacy Goergen verfasserin aut Giana Izzo verfasserin aut Kshitij Mankad verfasserin aut Karina Krajden Haratz verfasserin aut Cecilia Parazzini verfasserin aut Michael Fahey verfasserin aut Lara Menzies verfasserin aut Julia Baptista verfasserin aut Lucia Carpineta verfasserin aut Domenico Tortora verfasserin aut Ezio Fulcheri verfasserin aut Valerio Gaetano Vellone verfasserin aut Dario Paladini verfasserin aut Luigina Spaccini verfasserin aut Valentina Toto verfasserin aut Claire Trayers verfasserin aut Liat Ben Sira verfasserin aut Adi Reches verfasserin aut Gustavo Malinger verfasserin aut Vincenzo Salpietro verfasserin aut Patrizia De Marco verfasserin aut Myriam Srour verfasserin aut Federico Zara verfasserin aut Valeria Capra verfasserin aut Andrea Rossi verfasserin aut Mariasavina Severino verfasserin aut In Annals of Clinical and Translational Neurology Wiley, 2015 8(2021), 10, Seite 2004-2012 (DE-627)77139649X (DE-600)2740696-9 23289503 nnns volume:8 year:2021 number:10 pages:2004-2012 https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0 kostenfrei https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/toc/2328-9503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2021 10 2004-2012
allfields_unstemmed	10.1002/acn3.51448 doi (DE-627)DOAJ059766352 (DE-599)DOAJd39d340140d54e11af25c53ccc7c57e0 DE-627 ger DE-627 rakwb eng RC321-571 RC346-429 Andrea Accogli verfasserin aut L1CAM variants cause two distinct imaging phenotypes on fetal MRI 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing. Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system Stacy Goergen verfasserin aut Giana Izzo verfasserin aut Kshitij Mankad verfasserin aut Karina Krajden Haratz verfasserin aut Cecilia Parazzini verfasserin aut Michael Fahey verfasserin aut Lara Menzies verfasserin aut Julia Baptista verfasserin aut Lucia Carpineta verfasserin aut Domenico Tortora verfasserin aut Ezio Fulcheri verfasserin aut Valerio Gaetano Vellone verfasserin aut Dario Paladini verfasserin aut Luigina Spaccini verfasserin aut Valentina Toto verfasserin aut Claire Trayers verfasserin aut Liat Ben Sira verfasserin aut Adi Reches verfasserin aut Gustavo Malinger verfasserin aut Vincenzo Salpietro verfasserin aut Patrizia De Marco verfasserin aut Myriam Srour verfasserin aut Federico Zara verfasserin aut Valeria Capra verfasserin aut Andrea Rossi verfasserin aut Mariasavina Severino verfasserin aut In Annals of Clinical and Translational Neurology Wiley, 2015 8(2021), 10, Seite 2004-2012 (DE-627)77139649X (DE-600)2740696-9 23289503 nnns volume:8 year:2021 number:10 pages:2004-2012 https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0 kostenfrei https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/toc/2328-9503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2021 10 2004-2012
allfieldsGer	10.1002/acn3.51448 doi (DE-627)DOAJ059766352 (DE-599)DOAJd39d340140d54e11af25c53ccc7c57e0 DE-627 ger DE-627 rakwb eng RC321-571 RC346-429 Andrea Accogli verfasserin aut L1CAM variants cause two distinct imaging phenotypes on fetal MRI 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing. Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system Stacy Goergen verfasserin aut Giana Izzo verfasserin aut Kshitij Mankad verfasserin aut Karina Krajden Haratz verfasserin aut Cecilia Parazzini verfasserin aut Michael Fahey verfasserin aut Lara Menzies verfasserin aut Julia Baptista verfasserin aut Lucia Carpineta verfasserin aut Domenico Tortora verfasserin aut Ezio Fulcheri verfasserin aut Valerio Gaetano Vellone verfasserin aut Dario Paladini verfasserin aut Luigina Spaccini verfasserin aut Valentina Toto verfasserin aut Claire Trayers verfasserin aut Liat Ben Sira verfasserin aut Adi Reches verfasserin aut Gustavo Malinger verfasserin aut Vincenzo Salpietro verfasserin aut Patrizia De Marco verfasserin aut Myriam Srour verfasserin aut Federico Zara verfasserin aut Valeria Capra verfasserin aut Andrea Rossi verfasserin aut Mariasavina Severino verfasserin aut In Annals of Clinical and Translational Neurology Wiley, 2015 8(2021), 10, Seite 2004-2012 (DE-627)77139649X (DE-600)2740696-9 23289503 nnns volume:8 year:2021 number:10 pages:2004-2012 https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0 kostenfrei https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/toc/2328-9503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2021 10 2004-2012
allfieldsSound	10.1002/acn3.51448 doi (DE-627)DOAJ059766352 (DE-599)DOAJd39d340140d54e11af25c53ccc7c57e0 DE-627 ger DE-627 rakwb eng RC321-571 RC346-429 Andrea Accogli verfasserin aut L1CAM variants cause two distinct imaging phenotypes on fetal MRI 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing. Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system Stacy Goergen verfasserin aut Giana Izzo verfasserin aut Kshitij Mankad verfasserin aut Karina Krajden Haratz verfasserin aut Cecilia Parazzini verfasserin aut Michael Fahey verfasserin aut Lara Menzies verfasserin aut Julia Baptista verfasserin aut Lucia Carpineta verfasserin aut Domenico Tortora verfasserin aut Ezio Fulcheri verfasserin aut Valerio Gaetano Vellone verfasserin aut Dario Paladini verfasserin aut Luigina Spaccini verfasserin aut Valentina Toto verfasserin aut Claire Trayers verfasserin aut Liat Ben Sira verfasserin aut Adi Reches verfasserin aut Gustavo Malinger verfasserin aut Vincenzo Salpietro verfasserin aut Patrizia De Marco verfasserin aut Myriam Srour verfasserin aut Federico Zara verfasserin aut Valeria Capra verfasserin aut Andrea Rossi verfasserin aut Mariasavina Severino verfasserin aut In Annals of Clinical and Translational Neurology Wiley, 2015 8(2021), 10, Seite 2004-2012 (DE-627)77139649X (DE-600)2740696-9 23289503 nnns volume:8 year:2021 number:10 pages:2004-2012 https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0 kostenfrei https://doi.org/10.1002/acn3.51448 kostenfrei https://doaj.org/toc/2328-9503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2021 10 2004-2012
language	English
source	In Annals of Clinical and Translational Neurology 8(2021), 10, Seite 2004-2012 volume:8 year:2021 number:10 pages:2004-2012
sourceStr	In Annals of Clinical and Translational Neurology 8(2021), 10, Seite 2004-2012 volume:8 year:2021 number:10 pages:2004-2012
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Neurosciences. Biological psychiatry. Neuropsychiatry Neurology. Diseases of the nervous system
isfreeaccess_bool	true
container_title	Annals of Clinical and Translational Neurology
authorswithroles_txt_mv	Andrea Accogli @@aut@@ Stacy Goergen @@aut@@ Giana Izzo @@aut@@ Kshitij Mankad @@aut@@ Karina Krajden Haratz @@aut@@ Cecilia Parazzini @@aut@@ Michael Fahey @@aut@@ Lara Menzies @@aut@@ Julia Baptista @@aut@@ Lucia Carpineta @@aut@@ Domenico Tortora @@aut@@ Ezio Fulcheri @@aut@@ Valerio Gaetano Vellone @@aut@@ Dario Paladini @@aut@@ Luigina Spaccini @@aut@@ Valentina Toto @@aut@@ Claire Trayers @@aut@@ Liat Ben Sira @@aut@@ Adi Reches @@aut@@ Gustavo Malinger @@aut@@ Vincenzo Salpietro @@aut@@ Patrizia De Marco @@aut@@ Myriam Srour @@aut@@ Federico Zara @@aut@@ Valeria Capra @@aut@@ Andrea Rossi @@aut@@ Mariasavina Severino @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	77139649X
id	DOAJ059766352
language_de	englisch
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callnumber-first	R - Medicine
author	Andrea Accogli
spellingShingle	Andrea Accogli misc RC321-571 misc RC346-429 misc Neurosciences. Biological psychiatry. Neuropsychiatry misc Neurology. Diseases of the nervous system L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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topic_title	RC321-571 RC346-429 L1CAM variants cause two distinct imaging phenotypes on fetal MRI
topic	misc RC321-571 misc RC346-429 misc Neurosciences. Biological psychiatry. Neuropsychiatry misc Neurology. Diseases of the nervous system
topic_unstemmed	misc RC321-571 misc RC346-429 misc Neurosciences. Biological psychiatry. Neuropsychiatry misc Neurology. Diseases of the nervous system
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title	L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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title_full	L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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author_browse	Andrea Accogli Stacy Goergen Giana Izzo Kshitij Mankad Karina Krajden Haratz Cecilia Parazzini Michael Fahey Lara Menzies Julia Baptista Lucia Carpineta Domenico Tortora Ezio Fulcheri Valerio Gaetano Vellone Dario Paladini Luigina Spaccini Valentina Toto Claire Trayers Liat Ben Sira Adi Reches Gustavo Malinger Vincenzo Salpietro Patrizia De Marco Myriam Srour Federico Zara Valeria Capra Andrea Rossi Mariasavina Severino
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title_sort	l1cam variants cause two distinct imaging phenotypes on fetal mri
callnumber	RC321-571
title_auth	L1CAM variants cause two distinct imaging phenotypes on fetal MRI
abstract	Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
abstractGer	Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
abstract_unstemmed	Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
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title_short	L1CAM variants cause two distinct imaging phenotypes on fetal MRI
url	https://doi.org/10.1002/acn3.51448 https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0 https://doaj.org/toc/2328-9503
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author2Str	Stacy Goergen Giana Izzo Kshitij Mankad Karina Krajden Haratz Cecilia Parazzini Michael Fahey Lara Menzies Julia Baptista Lucia Carpineta Domenico Tortora Ezio Fulcheri Valerio Gaetano Vellone Dario Paladini Luigina Spaccini Valentina Toto Claire Trayers Liat Ben Sira Adi Reches Gustavo Malinger Vincenzo Salpietro Patrizia De Marco Myriam Srour Federico Zara Valeria Capra Andrea Rossi Mariasavina Severino
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doi_str	10.1002/acn3.51448
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up_date	2024-07-04T00:49:12.185Z
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L1CAM variants cause two distinct imaging phenotypes on fetal MRI

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