Tags

Type your tag names separated by a space and hit enter

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.
Am J Med Genet A 2004; 130A(2):181-90AJ

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.

Authors+Show Affiliations

Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand. dnpdi001@chiangmai.ac.thNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

15372530

Citation

Kantaputra, Piranit N., et al. "Microcephalic Osteodysplastic Primordial Dwarfism With Severe Microdontia and Skin Anomalies: Confirmation of a New Syndrome." American Journal of Medical Genetics. Part A, vol. 130A, no. 2, 2004, pp. 181-90.
Kantaputra PN, Tanpaiboon P, Unachak K, et al. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A. 2004;130A(2):181-90.
Kantaputra, P. N., Tanpaiboon, P., Unachak, K., & Praphanphoj, V. (2004). Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. American Journal of Medical Genetics. Part A, 130A(2), pp. 181-90.
Kantaputra PN, et al. Microcephalic Osteodysplastic Primordial Dwarfism With Severe Microdontia and Skin Anomalies: Confirmation of a New Syndrome. Am J Med Genet A. 2004 Oct 1;130A(2):181-90. PubMed PMID: 15372530.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. AU - Kantaputra,Piranit N, AU - Tanpaiboon,Pranoot, AU - Unachak,Kevalee, AU - Praphanphoj,Verayuth, PY - 2004/9/17/pubmed PY - 2005/2/9/medline PY - 2004/9/17/entrez SP - 181 EP - 90 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 130A IS - 2 N2 - 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. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15372530/Microcephalic_osteodysplastic_primordial_dwarfism_with_severe_microdontia_and_skin_anomalies:_confirmation_of_a_new_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.30079 DB - PRIME DP - Unbound Medicine ER -