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Familial hypodontia

MedGen UID:
712877
•Concept ID:
C1290514
•
Congenital Abnormality
SNOMED CT: Familial hypodontia (109447008)

Professional guidelines

PubMed

Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype.
Wong SW, Han D, Zhang H, Liu Y, Zhang X, Miao MZ, Wang Y, Zhao N, Zeng L, Bai B, Wang YX, Liu H, Frazier-Bowers SA, Feng H
J Dent Res 2018 Feb;97(2):155-162. Epub 2017 Sep 14 doi: 10.1177/0022034517729322. PMID: 28910570Free PMC Article
Concepts for the treatment of adolescent patients with missing permanent teeth.
Behr M, Driemel O, Mertins V, Gerlach T, Kolbeck C, Rohr N, Reichert TE, Handel G
Oral Maxillofac Surg 2008 Jul;12(2):49-60. doi: 10.1007/s10006-008-0109-5. PMID: 18594883
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia.
Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, D'Souza RN
J Dent Res 2000 Jul;79(7):1469-75. doi: 10.1177/00220345000790070701. PMID: 11005730

Recent clinical studies

Etiology

PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study.
Isman E, Nergiz S, Acar H, Sari Z
BMC Genomics 2013 Oct 26;14:733. doi: 10.1186/1471-2164-14-733. PMID: 24160254Free PMC Article

Diagnosis

Non-syndromic familial hypodontia: rare case reports and literature review.
Mărgărit R, Andrei OC, Tănăsescu LA, Farcaşiu C, Bisoc A, Dina MN, Burlibaşa M, Bodnar DC
Rom J Morphol Embryol 2019;60(4):1355-1360. PMID: 32239117
Familial Hypodontia: A Case Series.
Tangade SP, Ravishankar TL, Batra M, Shah AF
Kathmandu Univ Med J (KUMJ) 2015 Apr-Jun;13(50):167-9. doi: 10.3126/kumj.v13i2.16792. PMID: 26643836
Familial hypodontia associated with Dupuytren's disease.
Ranta H, Knif J, Ranta K
Scand J Dent Res 1990 Dec;98(6):457-60. doi: 10.1111/j.1600-0722.1990.tb00999.x. PMID: 2091241

Clinical prediction guides

Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes.
Nieminen P, Arte S, Pirinen S, Peltonen L, Thesleff I
Hum Genet 1995 Sep;96(3):305-8. doi: 10.1007/BF00210412. PMID: 7649547

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