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Familial hypodontia

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

Professional guidelines

PubMed

Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.
Yu K, Sheng Y, Wang F, Yang S, Wan F, Lei M, Wu Y
Oral Dis 2024 Oct;30(7):4598-4607. Epub 2024 Jan 29 doi: 10.1111/odi.14878. PMID: 38287639
Development of a Discrete-Choice Experiment (DCE) to Elicit Adolescent and Parent Preferences for Hypodontia Treatment.
Barber S, Bekker H, Marti J, Pavitt S, Khambay B, Meads D
Patient 2019 Feb;12(1):137-148. doi: 10.1007/s40271-018-0338-0. PMID: 30367434Free PMC Article
Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.
Wünsche S, Jüngert J, Faschingbauer F, Mommsen H, Goecke T, Schwanitz K, Stepan H, Schneider H
Ultraschall Med 2015 Aug;36(4):381-5. Epub 2014 Aug 20 doi: 10.1055/s-0034-1384933. PMID: 25140498

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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