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: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
2014
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| 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 |
| Summary: | 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. |
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