DOWN

SYNDROME
SUBMITTED TO-

SUBMITTED BY-

DEPARTMENT OF ORAL PATHOLOGY

AMANPREET KAUR BHANGU

AND MICROBIOLOGY NATIONAL DENTAL

BDS III PROF

COLLEGE & HOSPITAL,DERRA BASSI

ROLL NO.

CERTIFICATE
This is to certify that this seminar report entitled Down Syndromesubmitted to
department of Oral Pathology,National Dental College & Hospital,Dera Bassi is a
bonafide record of workdone by AMANPREET KAUR BHANGUunder my
supervision.

PLACE-National dental college & hospital,Dera bassi.

DATE-

ACKNOWLEDGEMENT
I would like to express my deepest appreciation to all those who provided me the
possibility to complete this seminar.A special gratitude to our third year H.O.D.
DR.REENA SARKAR BHOLA whose contribution in stimulating suggestions &
encouraging me to coordinate my seminar.
Further I would like to acknowledge with much appreciation the crucial role of the
teachers of ORAL PATHOLOGY who gave the permission to use all required
equipments and the necessary material to complete the task DR.CHHAVI JINDAL
& DR. JESSICA GAREWAL.

B.D.S.THIRD PROF,
AMANPREET KAUR BHANGU

INDEX
SYNONYMS
DEFINITION
CAUSE
INCIDENCE
CLINICAL FEATURES
ORAL MANIFESTATIONS
PRENATAL DIAGNOSIS
TREATMENT AND PROGNOSIS
CONCLUSION
SUMMARY ARTICLE 1
SUMMARY ARTICLE 2
SUMMARY ARTICLE 3
SUMMARY ARTICLE 4
SUMMARY ARTICLE 5
BIBLIOGRAPHY

SYNONYMS
TRISOMY 21 SYNDROME
MONGOLISM
CONGENITAL ACROMICRIA SYNDROME

WHAT IS DOWN SYNDROME?

DOWN SYNDROME IS A GENETIC CONDITION THAT CAUSES DELAYS
IN PHYSICAL AND INTELLECTUAL DEVELOPMENT. IT OCCURS
APPROXIMATELY 1 IN 800 LIVE BIRTHS.INDIVIDUALS WITH DOWN
SYNDROME HAVE 47 CHROMOSOMES INSTEAD OF THE USUAL 46
CHROMOSOMES.

CAUSES
TRISOMY 21[NONDISJUNCTION]-47 chromosomes{3#21 chromosomes}95%cases
CHROMOSOMAL TRANSLOCATION-{a part of chromosome #21 breaks off
during cell divisio and attaches to another chromosome}3-4% cases
MOSAICISM-nondisjunction of chromosome #21 in the initial cell division2%CASES

INCIDENCE
CHILDREN BORN TO MOTHERS OVER 30 YEARS OF AGE
INCIDENCE AT VARIOUS MATERNAL AGE
15-29 Years:1 case in 1500 live births
30 -34 Years:1 case in 800 live births
35-39 Years:1 case in 270 live births
40-44 Years:1 case in 100 live births

CLINICAL FEATURES
HEAD AND NECK
BRACHYCEPHALY
UP-SLANTING PALPEBRAL
FISSURES
EPICANTHAL FOLDS
HYPERTELEORISM
FLAT NASAL BRIDGE
FOLDED OR DYSPLASTIC
EARS
OPEN MOUTH
PROTRUDING TONGUE
SHORT NECK
EXCESSIVE SKIN AT THE NAPE OF NECK

EXTREMITIES
SHORT BROAD HANDS
SHORT FIFTH FINGER
TRANSVERSE PALMER CREASE
SPACE BETWEEN FIRST AND SECOND TOE
HYPERFLEXIBILITY OF JOINTS
INCOMPLETE PUBERTY
CONGENITAL AND ENDOCRINAL DEFECTS
HYPOTHYROIDISM
EPILEPSY

ORAL MANIFESTATIONS
SMALL MOUTH
PROTRUSION OF TONGUE
HYPOPLASIA OF MAXILLA
DELAYED TOOTH
ERUPTION
PARTIAL ANODONTIA
ENAMEL HYPOPLASIA
JUVENILE PERIODONTITIS
CLEFT LIPReduced salivary
flow
Crowding
High incidence of bruxism
High incidence of periodontal
disease
Macroglossia
Deep vaulted palate
Short roots
Delayed eruption
FISSURING AND THICKENING
OF LIPS
CHEILITIS
35-55% microdontia,clinical crowns short,conical,smallroots complete.
Congenitally missing teeth,taurodonts are frequent finding
Gingivitis develop early
V- shaped palate,incomplete development of the midface complex
Absent incisors make articulation difficult
Scalloped,fissured tongue with bifid uvula,enlarged tonsils/adenoids
Laryngeal stenosis,upper airway obstruction & sleep apnea

PRENATAL DIAGNOSIS
SCREENING TESTS 1)THE TRIPLE SCREEN TEST
2)SONOGRAMS(ULTRASOUNDS)
DIAGNOSTIC TESTS 1)AMNIOCENTESIS
2)CHRONIC VILLUS SAMPLING
3)PERCUTANEOUS UMBILICAL BLOOD SAMPLING

TREATMENT AND PROGNOSIS

NO SPECIFIC THERAPY
20-30% PATIENTS DIE AT FIRST YEAR OF LIFE
CAUSES OF DEATH-BRONCHOSPASM AND CONGENITAL HEART
DISEASE

CONCLUSION
Down Syndrome is caused by chromosomal abnormality .Chromosome #21
increases in its number.The growth rate is very less.People born with this disease
usually have mental retardation,physical abnormal characteristics.In 60%of the
cases the children get aborted.Certain tests can be done to diagnose this disease.

SUMMARY ARTICLE 1
SEVERITY OF OCCLUSAL DISHARMONIES IN DOWN
SYNDROME
#International Journal of Dentistry
(Volume 2012,Article ID 872367,6 pages)
The down syndrome group has severe malocclusions,open bite,missing
teeth.
Anterior & posterior cross bites are more prevalent.
The prevalence of missing teeth is approximately 10 times more than the
control group.

Summary Article 2
Etiologic factors of early onset periodontal disease
in down syndrome
#Japenese Dental Science Review (2008) 44,118-127)
Individuals with down syndrome often develop extensive gingivitis & exhibit rapid
& generalised periodontal breakdown in early breakdown. A no. of studies have
shown that down syndrome related periodontitis is caused by such factors
as.immunological deficiency,poor oral health,early senesence,salivary
deficiency,poor masticatory function.The individuals experience veryearly
colonization by various periodontal pathogens & exaggerated innate immune-

response to produce inflammatory mediators such as prostaglandins E2 & matrix

metalloprotiens.

Summary Article 3
Occurrence of hypodontia,supernumerary teeth &
dental anomalies in down syndrome
#Journal of Disability and Oral Health(2011)12/1 3-34
The occurrence of hypodontia, supernumerary teeth & dental anomalies in
individuals with down syndrome is high and there early detection leads to
dental treatment.
All the children with down syndrome should be submitted to radiographic
examination.

Summary Article 4
Dental anomalies in patients with down syndrome
#Braz Dent J (2007)

18(4):346-350

The characteristics of denatal anomalies related to down syndrome are observed in

the panoramic radiographs in both the primary and permanent
dentitions.taurodontism is the most common of all dental anomalies. The cases of
anodontia are divided in two types: proven anodontia & suspected anodontia.the
presence of the dental anomalies in patients with down syndrome is quite
pronounced with an incidence of 95.92%.dental care should be directed to prevent
or control the problems.

Summery Article 5
Second-trimester ultrasound to detect fetuses with
down syndrome
#JAMA,February 28,2001-Vol 285,No.8
A thickened nuchal fold in the second trimester may be useful in distinguishing
unaffected fetuses from fetuses with down syndrome but the overall sensitivity of
this finding is low, and thus it is not practical for use as a screening test.Use of
ultrasonographic markers will result in more fetal losses.Clinician should be more
cautious about the use of ultrasonic markers..

BIBLIOGRAPHY
SHAFERS TEXTBOOK OF ORAL PATHOLOGY
www.slideshare.net/euridki/down-syndrome
www.nads.org/docs/DS_Facts.ppt
www.ituhsc.edu/fostersom/pediatrics/neonatology/.../trisomy21.
International Journal of Dentistry
(Volume 2012,Article ID 872367,6 pages)
Japenese Dental Science Review (2008) 44,118-127)
Journal of Disability and Oral Health(2011)12/1 3-34
Braz Dent J (2007) 18(4):346-350
JAMA,February 28,2001-Vol 285,No.8

THANK YOU