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Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings.
Am J Med Genet. 2002 Sep 01; 111(4):420-8.AJ

Abstract

A Thai man and his sister affected with a newly recognized syndrome of proportionate primordial short stature are reported. The patients had severe intrauterine and postnatal growth retardation, prominent nose and nasal bridge, small pinnae, large sella turcica, areas of hypo- and hyperpigmentation of skin, dry and thin scalp hair, and long and straight clavicles. Ivory epiphyses and cone-shaped epiphyses of the hands were found when they were young, but most of them disappeared as they grew up. Scaphoid and trapezium had angular appearance. The second toes were unusually long. Distal symphalangism of toes and barchymesophalangy of fingers were noted. The findings that appear to distinguish this syndrome from the previously reported syndromes are long second toes, opalescent and rootless teeth, severe microdontia, severely hypoplastic alveolar process, and unerupted tooth. The mode of inheritance is suspected to be autosomal recessive.

Authors+Show Affiliations

Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand. dnpdi001@chiangmai.ac.th

Pub Type(s)

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

Language

eng

PubMed ID

12210304

Citation

Kantaputra, Piranit N.. "Apparently New Osteodysplastic and Primordial Short Stature With Severe Microdontia, Opalescent Teeth, and Rootless Molars in Two Siblings." American Journal of Medical Genetics, vol. 111, no. 4, 2002, pp. 420-8.
Kantaputra PN. Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet. 2002;111(4):420-8.
Kantaputra, P. N. (2002). Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. American Journal of Medical Genetics, 111(4), 420-8.
Kantaputra PN. Apparently New Osteodysplastic and Primordial Short Stature With Severe Microdontia, Opalescent Teeth, and Rootless Molars in Two Siblings. Am J Med Genet. 2002 Sep 1;111(4):420-8. PubMed PMID: 12210304.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. A1 - Kantaputra,Piranit N, PY - 2002/9/5/pubmed PY - 2003/2/11/medline PY - 2002/9/5/entrez SP - 420 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 111 IS - 4 N2 - A Thai man and his sister affected with a newly recognized syndrome of proportionate primordial short stature are reported. The patients had severe intrauterine and postnatal growth retardation, prominent nose and nasal bridge, small pinnae, large sella turcica, areas of hypo- and hyperpigmentation of skin, dry and thin scalp hair, and long and straight clavicles. Ivory epiphyses and cone-shaped epiphyses of the hands were found when they were young, but most of them disappeared as they grew up. Scaphoid and trapezium had angular appearance. The second toes were unusually long. Distal symphalangism of toes and barchymesophalangy of fingers were noted. The findings that appear to distinguish this syndrome from the previously reported syndromes are long second toes, opalescent and rootless teeth, severe microdontia, severely hypoplastic alveolar process, and unerupted tooth. The mode of inheritance is suspected to be autosomal recessive. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12210304/Apparently_new_osteodysplastic_and_primordial_short_stature_with_severe_microdontia_opalescent_teeth_and_rootless_molars_in_two_siblings_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=111&issue=4&spage=420 DB - PRIME DP - Unbound Medicine ER -