Absence of adult dental anomalies in familial hypophosphatasia
This paper is a supplemental report on 3 previous publications about a family in which 3 male children manifested gingival recession, alveolar bone resorption and premature exfoliation of their deciduous teeth without apical root resorption and without clinical signs of inflammation. Laboratory bloo...
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Veröffentlicht in: | Journal of periodontal research 1997-05, Vol.32 (4), p.375-380 |
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description | This paper is a supplemental report on 3 previous publications about a family in which 3 male children manifested gingival recession, alveolar bone resorption and premature exfoliation of their deciduous teeth without apical root resorption and without clinical signs of inflammation. Laboratory blood and urine studies in conjunction with an analysis of periodontal microflora and family pedigrees established a diagnosis of hypophosphatasia in these 3 children, as well as their father, the paternal grandmother and paternal great‐uncle. Clinical data also revealed that a son of the paternal great‐uncle and his daughter were similarly affected. The family pedigree is consistent with an autosomal dominant mode of transmission. The 3 brothers are now between the ages of 18 and 22 yr and all have complete permanent dentitions. Aside from some periodontal manifestations of prior dentoalveolar trauma, most of the findings of the periodontal assessment are within normal limits. All 3 exhibit moderate to severe caries and some degree of gingival inflammation, but minimal periodontal pathosis. |
doi_str_mv | 10.1111/j.1600-0765.1997.tb00547.x |
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R.</creatorcontrib><creatorcontrib>Banich, S.</creatorcontrib><creatorcontrib>Page, R. C.</creatorcontrib><title>Absence of adult dental anomalies in familial hypophosphatasia</title><title>Journal of periodontal research</title><addtitle>J Periodontal Res</addtitle><description>This paper is a supplemental report on 3 previous publications about a family in which 3 male children manifested gingival recession, alveolar bone resorption and premature exfoliation of their deciduous teeth without apical root resorption and without clinical signs of inflammation. Laboratory blood and urine studies in conjunction with an analysis of periodontal microflora and family pedigrees established a diagnosis of hypophosphatasia in these 3 children, as well as their father, the paternal grandmother and paternal great‐uncle. Clinical data also revealed that a son of the paternal great‐uncle and his daughter were similarly affected. The family pedigree is consistent with an autosomal dominant mode of transmission. The 3 brothers are now between the ages of 18 and 22 yr and all have complete permanent dentitions. Aside from some periodontal manifestations of prior dentoalveolar trauma, most of the findings of the periodontal assessment are within normal limits. All 3 exhibit moderate to severe caries and some degree of gingival inflammation, but minimal periodontal pathosis.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Dentistry</subject><subject>Dentition, Permanent</subject><subject>Errors of metabolism</subject><subject>exfoliation</subject><subject>Follow-Up Studies</subject><subject>hereditary</subject><subject>Humans</subject><subject>hypophosphatasia</subject><subject>Hypophosphatasia - complications</subject><subject>Hypophosphatasia - physiopathology</subject><subject>hypoplastic</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Periodontal Diseases - etiology</subject><subject>Periodontal Index</subject><subject>Tooth Injuries - complications</subject><issn>0022-3484</issn><issn>1600-0765</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkF2L1DAUhoMo67j6E4Qi4l3rSdIkjRcL67CuH7sKoijehDQ9ZTKmHzYdnPn3Zpgy9-YmJO9z3oSHkBcUCprW621BJUAOSoqCaq2KuQYQpSr2D8jqHD0kKwDGcl5W5WPyJMYtpLNU-oJcaEYBNF2Rq-s6Yu8wG9rMNrswZw32sw2Z7YfOBo8x833W2s4Hn243h3EYN0McN3a20dun5FFrQ8Rny35Jvr-7-bZ-n999uf2wvr7LnQAmcmTKtbpCqNpaOJQ1cxJd7SjnUKN0zDVC6JK2jGvgqmyktVBqVbGKK9Y0_JK8OvWO0_Bnh3E2nY8OQ7A9DrtolAYtBagEvjmBbhpinLA14-Q7Ox0MBXOUZ7bmaMgcDZmjPLPIM_s0_Hx5ZVd32JxHF1spf7nkNjob2sn2zsczxhSkQkjY1Qn76wMe_uMD5uPXG65EKshPBT7OuD8X2Om3kSoB5sfnW_Pr08_7e_52bSr-D2pJmo4</recordid><startdate>199705</startdate><enddate>199705</enddate><creator>Lepe, X.</creator><creator>Roth well, B. R.</creator><creator>Banich, S.</creator><creator>Page, R. C.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</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>199705</creationdate><title>Absence of adult dental anomalies in familial hypophosphatasia</title><author>Lepe, X. ; Roth well, B. R. ; Banich, S. ; Page, R. C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5025-e27cf98e08fb5ce6b2c6ecbc1330be6c2cd55941f2390374d6aa0497828372dd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Dentistry</topic><topic>Dentition, Permanent</topic><topic>Errors of metabolism</topic><topic>exfoliation</topic><topic>Follow-Up Studies</topic><topic>hereditary</topic><topic>Humans</topic><topic>hypophosphatasia</topic><topic>Hypophosphatasia - complications</topic><topic>Hypophosphatasia - physiopathology</topic><topic>hypoplastic</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Periodontal Diseases - etiology</topic><topic>Periodontal Index</topic><topic>Tooth Injuries - complications</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lepe, X.</creatorcontrib><creatorcontrib>Roth well, B. R.</creatorcontrib><creatorcontrib>Banich, S.</creatorcontrib><creatorcontrib>Page, R. C.</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>Journal of periodontal research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lepe, X.</au><au>Roth well, B. R.</au><au>Banich, S.</au><au>Page, R. C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Absence of adult dental anomalies in familial hypophosphatasia</atitle><jtitle>Journal of periodontal research</jtitle><addtitle>J Periodontal Res</addtitle><date>1997-05</date><risdate>1997</risdate><volume>32</volume><issue>4</issue><spage>375</spage><epage>380</epage><pages>375-380</pages><issn>0022-3484</issn><eissn>1600-0765</eissn><abstract>This paper is a supplemental report on 3 previous publications about a family in which 3 male children manifested gingival recession, alveolar bone resorption and premature exfoliation of their deciduous teeth without apical root resorption and without clinical signs of inflammation. Laboratory blood and urine studies in conjunction with an analysis of periodontal microflora and family pedigrees established a diagnosis of hypophosphatasia in these 3 children, as well as their father, the paternal grandmother and paternal great‐uncle. Clinical data also revealed that a son of the paternal great‐uncle and his daughter were similarly affected. The family pedigree is consistent with an autosomal dominant mode of transmission. The 3 brothers are now between the ages of 18 and 22 yr and all have complete permanent dentitions. Aside from some periodontal manifestations of prior dentoalveolar trauma, most of the findings of the periodontal assessment are within normal limits. All 3 exhibit moderate to severe caries and some degree of gingival inflammation, but minimal periodontal pathosis.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>9210091</pmid><doi>10.1111/j.1600-0765.1997.tb00547.x</doi><tpages>6</tpages></addata></record> |
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subjects | Adolescent Adult Biological and medical sciences Dentistry Dentition, Permanent Errors of metabolism exfoliation Follow-Up Studies hereditary Humans hypophosphatasia Hypophosphatasia - complications Hypophosphatasia - physiopathology hypoplastic Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Periodontal Diseases - etiology Periodontal Index Tooth Injuries - complications |
title | Absence of adult dental anomalies in familial hypophosphatasia |
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