Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone‐shaped and ivory‐epiphyses, delayed bo...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2004-10, Vol.130A (2), p.181-190 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Kantaputra, Piranit N. Tanpaiboon, Pranoot Unachak, Kevalee Praphanphoj, Verayuth |
| description | We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone‐shaped and ivory‐epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single‐rooted or rootless teeth, severely hypoplastic alveolar bone, café au lait spots, acanthosis nigricans, and areas of hypo‐ and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420–428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.30079 |
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The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone‐shaped and ivory‐epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single‐rooted or rootless teeth, severely hypoplastic alveolar bone, café au lait spots, acanthosis nigricans, and areas of hypo‐ and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420–428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.30079</identifier><identifier>PMID: 15372530</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Child ; Dwarfism - pathology ; Family Health ; Female ; Humans ; hyperpigmented skin ; hypopigmented skin ; hypoplastic alveolar bone ; Male ; malformed tooth ; Microcephaly - pathology ; microdontia ; Osteochondrodysplasias - pathology ; Pedigree ; rootless tooth ; Skin Abnormalities ; Syndrome ; Tooth Abnormalities</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone‐shaped and ivory‐epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single‐rooted or rootless teeth, severely hypoplastic alveolar bone, café au lait spots, acanthosis nigricans, and areas of hypo‐ and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420–428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Child</subject><subject>Dwarfism - pathology</subject><subject>Family Health</subject><subject>Female</subject><subject>Humans</subject><subject>hyperpigmented skin</subject><subject>hypopigmented skin</subject><subject>hypoplastic alveolar bone</subject><subject>Male</subject><subject>malformed tooth</subject><subject>Microcephaly - pathology</subject><subject>microdontia</subject><subject>Osteochondrodysplasias - pathology</subject><subject>Pedigree</subject><subject>rootless tooth</subject><subject>Skin Abnormalities</subject><subject>Syndrome</subject><subject>Tooth Abnormalities</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtPGzEQgK2qqATaG-fKp55I6sd6H9yiiKeIuNCzNbHHxHS9DvaGKBI_nk0Twa0nj6VvPmk-Qs44m3DGxG94Dk8TmEjGquYLGXGlxLiopfz6MQt1TE5yfmZMMlWV38gxV7ISSrIReZt7k6LB1RJab2jMPUa7zasWcj_8V8mHmKyHltoNJOdzoBvfL2nGV0xIw27bxq73QKGzNP_13TDEMNgwX9BZ7JxPAXofOxodBdrhhuZtZ1MM-J0cOWgz_ji8p-TP1eXj7GZ8_3B9O5vej42UvBk7Liqr7EK6qjC8dmBqXqkFsoWBpnC8QWGFELZkdSFlAVhIJYoCFTdWIjTylPzae1cpvqwx9zr4bLBtocO4zros66asmBrA8z04XJVzQqd3ASBtNWd6V1vvamvQ_2oP-M-Dd70IaD_hQ94BkHtg41vc_lemp3fz6732HWuijsA</recordid><startdate>20041001</startdate><enddate>20041001</enddate><creator>Kantaputra, Piranit N.</creator><creator>Tanpaiboon, Pranoot</creator><creator>Unachak, Kevalee</creator><creator>Praphanphoj, Verayuth</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><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>20041001</creationdate><title>Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome</title><author>Kantaputra, Piranit N. ; Tanpaiboon, Pranoot ; Unachak, Kevalee ; Praphanphoj, Verayuth</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3319-f127d5db3f74c18fac8175be0bca94f19e2d222d6084334ae435244e51cd3ea93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Child</topic><topic>Dwarfism - pathology</topic><topic>Family Health</topic><topic>Female</topic><topic>Humans</topic><topic>hyperpigmented skin</topic><topic>hypopigmented skin</topic><topic>hypoplastic alveolar bone</topic><topic>Male</topic><topic>malformed tooth</topic><topic>Microcephaly - pathology</topic><topic>microdontia</topic><topic>Osteochondrodysplasias - pathology</topic><topic>Pedigree</topic><topic>rootless tooth</topic><topic>Skin Abnormalities</topic><topic>Syndrome</topic><topic>Tooth Abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kantaputra, Piranit N.</creatorcontrib><creatorcontrib>Tanpaiboon, Pranoot</creatorcontrib><creatorcontrib>Unachak, Kevalee</creatorcontrib><creatorcontrib>Praphanphoj, Verayuth</creatorcontrib><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. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kantaputra, Piranit N.</au><au>Tanpaiboon, Pranoot</au><au>Unachak, Kevalee</au><au>Praphanphoj, Verayuth</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2004-10-01</date><risdate>2004</risdate><volume>130A</volume><issue>2</issue><spage>181</spage><epage>190</epage><pages>181-190</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone‐shaped and ivory‐epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single‐rooted or rootless teeth, severely hypoplastic alveolar bone, café au lait spots, acanthosis nigricans, and areas of hypo‐ and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420–428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15372530</pmid><doi>10.1002/ajmg.a.30079</doi><tpages>10</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Child Dwarfism - pathology Family Health Female Humans hyperpigmented skin hypopigmented skin hypoplastic alveolar bone Male malformed tooth Microcephaly - pathology microdontia Osteochondrodysplasias - pathology Pedigree rootless tooth Skin Abnormalities Syndrome Tooth Abnormalities |
| title | Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome |
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