Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter-Tönz syndrome?
We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypopla...
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| Veröffentlicht in: | American journal of medical genetics 1994-03, Vol.50 (1), p.79-83 |
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| container_title | American journal of medical genetics |
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| creator | Guazzi, Giancarlo Palmeri, Silvia Malandrini, Alessandro Ciacci, Giuseppe Perri, Raoul Di Mancini, Grazia Messina, Corrado Salvadori, Claudio |
| description | We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter‐Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development. © 1994 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320500117 |
| format | Article |
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In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter‐Tönz syndrome and neuroectodermal diseases. 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J. Med. Genet</addtitle><description>We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter‐Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development. © 1994 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Amelogenesis Imperfecta - genetics</subject><subject>Ataxia - genetics</subject><subject>Biological and medical sciences</subject><subject>Brain - abnormalities</subject><subject>Complex syndromes</subject><subject>dementia</subject><subject>Dementia - genetics</subject><subject>Dental Enamel Hypoplasia - genetics</subject><subject>dominant inheritance</subject><subject>epilepsy</subject><subject>Epilepsy - genetics</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDtvFDEUhS0ECkugpkJygagyiV9jz0CBVgGWR4BmEaV1d-xhHTz2YM-SDAU_i4ouf4xZ7WoRFdUtznfOvfcg9JCSU0oIO4PL7ssp5YyUhFCqbqEZJbUsKsmq22hGqKgKxer6LrqX8-UWERU7QkcVlUSVaoZ-zge4dnCCOxsG8NjYwSYXEwwuhhNse-dtn0fsAgbcQuf8iK_csMYmdi5AGLAN0FmP12Mfew_ZwVM8x98hua0YW_wurn1u1je_hym5WN78Cj9wHoNJsbPP76M7LfhsH-znMfr06uXy_HVx8XHx5nx-UTRi-qownMrp8tIAp2IlGShD20ZVSqpSTL-0TW0MiFUlBVsJXgNjZSkUVbY1NWEVP0ZPdrl9it82Ng-6c7mx3kOwcZO1kkIQWdIJPNuBTYo5J9vqPrkO0qgp0dvG9bZx_bfxyfFoH71ZddYc-H3Fk_54r0NuwLcJQuPyAeO1JJKSCXu2w66mxsf_bdXzt-8X_xxR7NwuD_b64Ib0VUvFVak_f1joFxVfygvFNeF_AGODqzk</recordid><startdate>19940301</startdate><enddate>19940301</enddate><creator>Guazzi, Giancarlo</creator><creator>Palmeri, Silvia</creator><creator>Malandrini, Alessandro</creator><creator>Ciacci, Giuseppe</creator><creator>Perri, Raoul Di</creator><creator>Mancini, Grazia</creator><creator>Messina, Corrado</creator><creator>Salvadori, Claudio</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19940301</creationdate><title>Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter-Tönz syndrome?</title><author>Guazzi, Giancarlo ; Palmeri, Silvia ; Malandrini, Alessandro ; Ciacci, Giuseppe ; Perri, Raoul Di ; Mancini, Grazia ; Messina, Corrado ; Salvadori, Claudio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4117-d3161485da314b62a7d1fc7876754816fc9dda4b8642b439a22554717efd90283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Amelogenesis Imperfecta - genetics</topic><topic>Ataxia - genetics</topic><topic>Biological and medical sciences</topic><topic>Brain - abnormalities</topic><topic>Complex syndromes</topic><topic>dementia</topic><topic>Dementia - genetics</topic><topic>Dental Enamel Hypoplasia - genetics</topic><topic>dominant inheritance</topic><topic>epilepsy</topic><topic>Epilepsy - genetics</topic><topic>Female</topic><topic>Genes, Dominant</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Magnetic Resonance Imaging</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>Syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Guazzi, Giancarlo</creatorcontrib><creatorcontrib>Palmeri, Silvia</creatorcontrib><creatorcontrib>Malandrini, Alessandro</creatorcontrib><creatorcontrib>Ciacci, Giuseppe</creatorcontrib><creatorcontrib>Perri, Raoul Di</creatorcontrib><creatorcontrib>Mancini, Grazia</creatorcontrib><creatorcontrib>Messina, Corrado</creatorcontrib><creatorcontrib>Salvadori, Claudio</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Guazzi, Giancarlo</au><au>Palmeri, Silvia</au><au>Malandrini, Alessandro</au><au>Ciacci, Giuseppe</au><au>Perri, Raoul Di</au><au>Mancini, Grazia</au><au>Messina, Corrado</au><au>Salvadori, Claudio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter-Tönz syndrome?</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1994-03-01</date><risdate>1994</risdate><volume>50</volume><issue>1</issue><spage>79</spage><epage>83</epage><pages>79-83</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter‐Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development. © 1994 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8160757</pmid><doi>10.1002/ajmg.1320500117</doi><tpages>5</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Adult Amelogenesis Imperfecta - genetics Ataxia - genetics Biological and medical sciences Brain - abnormalities Complex syndromes dementia Dementia - genetics Dental Enamel Hypoplasia - genetics dominant inheritance epilepsy Epilepsy - genetics Female Genes, Dominant Humans Intellectual Disability - genetics Magnetic Resonance Imaging Medical genetics Medical sciences Pedigree Syndrome |
| title | Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter-Tönz syndrome? |
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