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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Main Authors: Kantaputra P.N., Tanpaiboon P., Unachak K., Praphanphoj V.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-4644292222&partnerID=40&md5=0aacb18e0e35fb7dec26f12a78ec24b5
http://www.ncbi.nlm.nih.gov/pubmed/15372530
http://cmuir.cmu.ac.th/handle/6653943832/3819
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Institution: Chiang Mai University
Language: English
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spelling th-cmuir.6653943832-38192014-08-30T02:35:21Z Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome Kantaputra P.N. Tanpaiboon P. Unachak K. Praphanphoj V. 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. 2014-08-30T02:35:21Z 2014-08-30T02:35:21Z 2004 Article 15524825 10.1002/ajmg.a.30079 15372530 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-4644292222&partnerID=40&md5=0aacb18e0e35fb7dec26f12a78ec24b5 http://www.ncbi.nlm.nih.gov/pubmed/15372530 http://cmuir.cmu.ac.th/handle/6653943832/3819 English
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
language English
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.
format Article
author Kantaputra P.N.
Tanpaiboon P.
Unachak K.
Praphanphoj V.
spellingShingle Kantaputra P.N.
Tanpaiboon P.
Unachak K.
Praphanphoj V.
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
author_facet Kantaputra P.N.
Tanpaiboon P.
Unachak K.
Praphanphoj V.
author_sort Kantaputra P.N.
title Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
title_short Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
title_full Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
title_fullStr Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
title_full_unstemmed Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
title_sort microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome
publishDate 2014
url http://www.scopus.com/inward/record.url?eid=2-s2.0-4644292222&partnerID=40&md5=0aacb18e0e35fb7dec26f12a78ec24b5
http://www.ncbi.nlm.nih.gov/pubmed/15372530
http://cmuir.cmu.ac.th/handle/6653943832/3819
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