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 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.
Kantaputra
Piranit N
PN
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand. dnpdi001@chiangmai.ac.th
Tanpaiboon
Pranoot
P
Unachak
Kevalee
K
Praphanphoj
Verayuth
V
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D004392:Dwarfism / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology; D010009:Osteochondrodysplasias / Q000473:pathology; D010375:Pedigree; D012868:Skin Abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities