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Flashcards in selected syndromes Deck (23)
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1

syndrome def

The aggregate of signs & symptoms
associated with any morbid process,
& constituting together the picture
of the disease

2

Cytogenetic Disorders

• Alteration in chromosome #
– Euploidy, aneuploidy
• 45, X (Turner’s syndrome)
• 47, XXY (Klinefelter’s syndrome)
• Alteration in chromosome structure (1 or
more)
– Translocation
– Deletion
– Inversion
– Ring chromosomes

3

• Proband

– The individual who initially presents w/ an
identifiable disorder prompting the genetic
study

4

• Penetrance

– The frequency w/ which an inheritable
trait is manifested by individuals carrying
the gene for that trait (%)

5

expressivity

– The extent or degree to which the
inheritable traits are manifested by the
individual

6

Modes of Genetic Transmission

• Autosomal dominant (most common)
• Autosomal recessive (sickle-cell dz)
• X-linked dominant (vit D resistant
rickets)
• X-linked recessive (hemophilia A)
• Y-linked

7

TRISOMY 21

• Aka Down syndrome
• Most common/best known of the
malformation syndromes
• 1/650 live births
• Association with increased maternal
age
– 38/1000 live births at 44 years of age or
older

8

clinical features of trisomy 21

• Upslanting lateral palpebral fissures
• Low nasal bridge
• Mental retardation
• Broad, wide neck
• Simian crease (palm: single palmar crease)
• Small, malformed ears

9

oral features of trisomy 21

– Relative macroglossia, fissured tongue
– Delayed tooth eruption, hypodontia
– Narrow palate, malocclusion
– Taurodontism

10

Treacher Collins Syndrome

•Defects from first and second
branchial arches
•Autosomal dominant/sporadic (60%
new mutations); 1 in 25,000-50,000
live births; associated with increased
paternal age
•Gene mutation (treacle or TCOF1)
mapped to chromosome 5q32-q33.
•Variable expressivity; severity
increases with successive generations

11

clinical features of teacher collins

– Hypoplastic zygomas; coloboma (notch in
outer lower eyelid)
– Ear anomalies: deformed/misplaced
pinnae, extra ear tage, conductive
hearing loss due to absence of external
auditory canal
– Retruded, small mandible; condylar
hypoplasia
– 15% patients have lateral facial clefts;
macrostomia
– Cleft palate in 1/3 of patients
– Hypoplastic/absent parotids
– Respiratory complications
– NO intellectual impairment

12

crouton syndrom ceph appearance

beaten copper

13

difference between apart and crouzon

syndactyly of the hands

14

The presence of multiple odontogenic
keratocysts in the same patient is strongly
suggestive of this syndrome!

Nevoid Basal Cell
Carcinoma Syndrome
(Gorlin Syndrome)

15

features of goblin syndrome

palmar and plantar pits
spina bifida
falx cerebri calcification

16

gardner syndrome

• Aka Familial Adenomatous Polyposis
(FAP)
• Autosomal dominant, near 100%
penetrance
• 1/3 cases are spontaneous mutations
• Mutation mapped to the APC gene
(adenomatous polyposis coli gene) on
chromosome 5
• 1:8,300 to 1:16,000 live births
colon polyps

17

skeletal manifestations of gardner syndrome

• Skeletal anomalies in 90% of patients
– Osteomas most common
• Commonly skull, paranasal sinuses, mandible
• Usually noted during puberty, before onset of
bowel symptoms
• Usually have 3-6 osteomas

18

dental abnormalities of gardner syndrome

• Dental abnormalities
– Odontomas
– Supernumerary teeth
– Impacted teeth

19

McCune-Albright Syndrome
Polyostotic Fibrous Dysplasia

• Genetics
– Sporadic postzygotic mutation GNAS 1 gene
• Clinical
– Tumor-like condition in which normal bone is
replaced by cellular fibrous connective tissue
with irregular bony trabeculae
– Jaw & skull can be affected, though polyostotic
fibrous dysplasia more frequently involves the
long bones

20

Jaffe-Lichtenstein syndrome

PFD + café au
lait pigmentation

21

McCune-Albright syndrome

PFD + café au
lait pigmentation + multiple endocrinopathies
– Sexual precocity, pituitary adenoma, or
hyperthyroidism

22

radiographic appearance of mccue alb rights

“ground glass” or
“orange peel” appearance

23

Sjögren Syndrome

• Autoimmune disorder
• Salivary & lacrimal glands involved
• Classification
– Primary
• Sicca syndrome alone (xerostomia +
xerophthalmia)
– Secondary
• Sicca syndrome + another autoimmune disease