Int Poster J Dent Oral Med 2007, Vol 9 No 03, Poster 375
The importance of the dental exam for identification and diagnosis of genetic diseases
Prof. Cristina Maria Bortun, Assoc. Prof. Liliana Sandu, Assoc. Prof. Maria Puiu, Assist. Serban Talpos
Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
May 6-9, 2006
European Human Genetics Conference
Nowadays, with the advances in molecular genetics and the study of human
genome, there are great expectations for a better understanding of human
diseases and further alternatives to prevent or even cure genetic disorders.
Genetics is playing an important role in medical science and therfore it has
reached an increasing awareness of genetics by the public.
Many dentists are interested in the fundamental principles and diagnosis of
common genetic disorders and the treatment approach of genetically compromised patients.
Registration and multidisciplinary investigation of genetic diseases between years 2000-2005.
Material and Methods
The genetic pathology determins often complex and extreme polimorph
clinical aspects. The Department of Genetic from ,,Louis Turcanu" Children\'s
Emergency Hospital investigated and observed between 2000 to 2005, 540
children with different genetic diseases. 78% (420 children) of them presented
from minor to major dento-maxillofacial disorders and anomalies. Among the
registrated cases cromosomial syndroms, monogenic diseases, different
caused plurimalformative syndromes (cystic fibrosis, Pierre Robin
Syndrome, Treacher Collins Syndrome, Apert Syndrome, Stickler Syndrome,
MPZ Hurler, Trisomy 13, Trisomy 18, Velocardiofacial syndrome etc.), were
The dental exam was often indispensable and highly important in revealing of
hardly detectable diseases.
The dentist complets the multidisciplinary team which is observing and
diagnosting genetic disease.
|Fig. 1. Distrophy, dental displasia on anterior permanent teeth in cystic fibrosis child
|Fig. 2. Cleidocranian disostosis
||Fig. 3. Treacher Collins Franceschetti Syndrome
|Fig. 4. MPZ Hurler
|Fig. 5. Amniotic banddisruption sequence syndrome
||Fig. 6. Crouzon Syndrom
||Fig. 7. MPZ - Hurler form
|Fig. 8. Pierre Robin Sequence
||Fig. 9. Down Syndrome
||Fig. 10. Craniostenosis
|Fig. 11. Familial Lip and Palate Cleft: A. Father
||Fig. 11. Familial Lip and Palate Cleft: B. Family
||Fig. 11. Familial Lip and Palate Cleft: C. Child
28% presented the association of multiple dental anomalies, including
agenesis, tooth mallposition and delayed development. Tooth agenesis is the
most common developmental anomaly of the human dentition, occurring in
24% of the patients. The most frequent teeth agenesis is represented by the third
molar (M3) agenesis, having a prevalence rate of 23%. On a contrary,
permanent second molar (M2) agenesis is a rare occurrence, found only in one
of the studied cases , consecutive orthodontic patients (0. 18%).
13% of patients presented facial cleft. From 63 cleft infants born in Timis
between 2000 and 2005, 39.7% had associated malformations. There are about
400 known syndromes associated with cleft lip and/or palate.
Among the chromosomal syndromes registrated cases (22%), monogenic
diseases (29%), different caused plurimalformative syndromes (maternal use
of prescription drugs, alcohol, and tobacco, maternal nutritional status and
occupational exposures during pregnancy) were found (49%).
Frequently, certain human dental anomalies occur, supporting the accumulated
evidence of the shared genetic control of dental developmental disturbances.
Teeth agenesis has a genetic basis. A twin study interestingly found a high
concordance rate for tooth agenesis in monozygotic twins, while all dizygotic
twin pairs were discordant. The studies suggested that the transmission mode
could be explained by a singtle autosomal dominant gene with incomplete
Recently, it has been identified a mutation in the MSX1 gene on chromosome
4. It is further suggested that the delayed eruption, as well as microdontia,
represent a partial expressiveness of the same gene leading to tooth agenesis.
For the dentomaxillary anomalies diagnosis the dentistry exam was often
indispensable and highly important, revealing hardly detectable diseases. The
early dental exam is necessary in all genetic syndrome, for a correct topic and
adequate therapeutically directions. The role of dentist in the multi disciplinary
team is very important to participate to diagnosing and observing genetic
The clinical implications of the dental anomalies, with genetically controlled
patterns are important in establishment of early diagnosis and appropriate
orthodontic care .
High frequency of genetic diseases identified in this study is justified by
selection and including of severe and complex phenotypic diseases.
Collaboration between dentist geneticist and pediatrician ensure a formula of
a correct diagnosis and in giving an adequate genetic advice.
The dentist can surprise only one part of genetic diseases and also intuit and
suggest additional investigations in order to determine the diagnosis,
especially in atypical manifestation and variable expressive cases.
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- Mensah J.K.,Ogawa T.,Kapadia H., Cavender A.C., D\'Souza R.N., Functional analysis of mutation in PAX9 associated with familial tooth agenesis in humans. J.Biol. Chem.2004, 279:5924-5933.
This Poster was submitted by Prof. Cristina Bortun.
Prof. Cristina Bortun
"Victor Babes" University of Medicine and Pharmacy
Bvd. Revolutiei 1989, No.9
code 300041 Timisoara