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Revision > Oral manifestations of congenital diseases > Flashcards

Oral manifestations of congenital diseases Flashcards

1
Q

Clinical features of foetal alcohol syndrome?

A

> Small head, low nasal bridge, epicanthal folds, flat midface, smooth philtrum, short nose, thin upper lip and underdeveloped jaw.
Difficulty feeding.
Hearing and speech issues
Psychosocial problems

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2
Q

Aetiology of foetal alcohol syndrome?

A

Consumption of alcohol during pregnancy.
Leading cause of intellectual disability.

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3
Q

Foetal alcohol syndrome’s relevance to dentistry?

A
  • Hypodontia
  • Microdontia
  • Supernumeraries
  • Delayed eruption of teeth
  • Medications increase caries
  • Oral hygiene neglected
  • Inability to cooperate with dental exam or treatment
  • Small mouth, restricted opening
  • Treatment under GA/sedation
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4
Q

Trisomy 21 (Down Syndrome) clinical features?

A

Mental impairment
Stunted growth
Brachycephaly (flattened area back of skull)
Shortened extremities
Flattened nasal bridge
Hypoplasia of midface

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5
Q

Aetiology of Trisomy 21 (Down Syndrome)?

A

Meiotic non-disjunction resulting in an extra copy of chromosome 21
Affects 1/700 children

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6
Q

Trisomy 21 (Down Syndrome) relevance to dentistry?

A
  • Hypodontia
  • Microdontia
  • Macroglossia
  • Delayed eruption
  • Cleft palate
  • Periodontal disease due to poor oral hygiene
  • Potential differences with cooperation.
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7
Q

Clinical features of Klinefelter Syndrome ‘XXY syndrome’

A

Infertile and tall
Hypogonadism (diminished functional activity of the sex gonads –> reduced production of sex hormones)
Body doesn’t produce enough hormone that is involved in masculine growth and development
Female characteristics:
- reduced muscle mass
- broad hips
- gynaecomastia (swelling of breasts in males)
- less facial and body hair

Affects 1/750 male births

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8
Q

Osteogenesis imperfecta clinical features?

A
  • Reduced bone density and tendency to fracture
  • Deafness
  • Blue sclera
  • Thin translucent skin
  • Joint hypermobility
  • Hear valve defects
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9
Q

Osteogenesis imperfecta aetiology?

A

Abnormality in type 1 collagen synthesis with resulting areas of reduced bone density and tendency to fracture.
Associated with dentinogenesis imperfecta (type 1).

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10
Q

Achondroplasia clinical features?

A

Dwarfism
Relatively normal cranium and spine length
Retrusive mid third of face (defective growth at base of skull)

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11
Q

Achondroplasia aetiology?

A

Hereditary AD (autosomal dominant) condition or acquired via sporadic defects.
Failure of normal endochondral ossification at growth plates (bones don’t growth to full length)
Affects 1/25,000 births

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12
Q

Achondroplasia dental relevance?

A
  • Depressed nasal bridge
  • Hypoplasia
  • Malocclusion
  • Risk of airway obstruction
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13
Q

Osteopetrosis clinical features?

A

Sclerosis of skeleton
Susceptibility to fracture
Haematological abnormalities (bone marrow obliterated in centre of bone –> bleeding tendency due to less platelets)

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14
Q

Osteopetrosis aetiology?

A

Defect in osteoclast activity due to defective carbonic anhydrase.
Excessive formation and density of bone.

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15
Q

Osteopetrosis dental features?

A
  • Delayed eruption of teeth (can’t penetrate thick bone)
  • Difficult extractions
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16
Q

Cleidocranial dysplasia clinical features?

A
  • Partial or complete absence of clavicles.
  • Skull sutures/fontanelles remain open
  • Prominent frontal, parietal and occipital bones.
  • Depressed nasal bridge.
  • Hypoplastic mid face
  • Hypertelorism - increased distance between eyes.
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17
Q

Cleidocranial dysplasia aetiology?

A

AD (autosomal dominant) defect largely affecting the skull, jaws and clavicles.

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18
Q

Cleidocranial dysplasia dental relevance?

A
  • Underdeveloped maxilla
  • Narrow, high arched palate
  • Retained primary teeth
  • Delayed eruption of secondary dentition
  • Supernumerary teeth
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19
Q

Marfan syndrome clinical features?

A

Tear in blood vessel lining causing blood to pool
MAJOR CRITERIA (>2):
- lens dislocation
- aortic dilation or dissection
- dural ectasia
- skeletal features e.g. pectus deformity, long arm span
MINOR CRITERIA
- mitral valve prolapse
- joint hypermobility

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20
Q

Marfan syndrome aetiology?

A
  • AD connective tissue disease
  • Causes reduced recoil of connective tissue
  • Connective tissue stretches and remains stretched
  • Affects fibrillin
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21
Q

Marfan syndrome dental relevance?

A

High arched palate

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22
Q

McCune-Albright syndrome clinical features?

A
  • Cafe-au-lait pigmentation (flat brown patches on skin)
  • Presents in children
  • Precocious puberty (girls <10)
  • Normal bone replaced with fibrous tissue (bones deform and can be painful)
  • Associated endocrinopathy
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23
Q

McCune-Albright syndrome aetiology?

A

Polyostotic fibrous dysplasia
Affects >1 bone
Hyperactivity –> Cushing’s, hyperthyroidism

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24
Q

Craniosynostosis syndromes clinical features?

A
  • Severe underdevelopment of midface
  • Hypertelorism with bulging eyes
  • Learning difficulties
  • Hearing loss and recurrent ear infections
  • Webbing of fingers and toes
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25
Q

Craniosynostosis syndromes aetiology?

A
  • Facial bones and bony sutures of skull fuse prematurely
  • Apert syndrome
  • Crouzon syndrome
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26
Q

Craniosynostosis syndromes dental relevance?

A
  • Mandibular prognathism
  • Narrow high arches palate
  • Hypodontia
  • Posterior bilateral crossbite
27
Q

Cowden syndrome clinical features?

A
  • Multiple hamartomas - benign focal malformations
  • Facial trichilemmomas (benign tumours arising from outer cells of hair follicle)
  • Palmoplantar keratosis (thickening of skin on soles of feet)
  • Cystic lesions of bones
28
Q

Cowden syndrome aetiology?

A

Mutation of tumour suppressor gene
Overgrowth of benign mature tissue, resulting in multiple hamartomas
Increased risk of malignant neoplasms, particularly in the thyroid and breast.

29
Q

Cowden syndrome dental relevance?

A

Oral papillomatosis (polyps)
Skin tags and haemangiomas - blood blisters

30
Q

Gardner syndrome clinical features?

A

Multiple polyps of colon each with high malignant potential.
Benign bone osteomas
Epidermal cysts
Dermoid tumours, fibromas and neurofibromas.

31
Q

Gardner syndrome aetiology?

A

AD condition which is a variant of familial adenomatous polyposis

32
Q

Gardner syndrome dental relevance?

A
  • Increased risk of malignant neoplasms
  • Ask patient about history of bowel disease
    i. multiple osteoma
    ii. multiple dense bone islands (5+ is pathogenic)
    iii. epidermoid cysts
    iv. polyps of the intestine (cancer risk so need screening)
    v. multiple unerupted supernumerary (hyperdontia)
33
Q

Gorlin Goltz syndrome clinical features?

A
  • Multiple basal cell carcinomas of skin
  • Bifid ribs and vertebral anomalies
  • Early calcification of falx cerebri
  • Frontal temporal bossing (protruding forehead)
  • Hypertelorism
34
Q

Gorlin Goltz syndrome aetiology?

A

Naevoid basal cell carcinooma.
AD defect on Ch9q (defect on tumour suppressor genes –> overgrowth of various tissues)

35
Q

Gorlin Goltz syndrome dental relevance?

A
  • Mandibular prognathism
  • Multiple odontogenic keratocysts, usually mandible of young patients
    > benign but locally aggressive
  • Hypodontia

a. Presents with multiple keratocysts in teenages/early 20s.
b. Multiple expansile keratocysts
c. 80% calcification of the falx cerebri - the fissure between the two hemispheres.
d. Multiple skin BCC
e. Bifid ribs + scoliosis
f. Hypodontia
g. Differential diagnoses: radicular cyst, ameloblastoma

36
Q

Sturge-Weber Syndrome clinical features?

A
  • Port wine stain on face
  • Ipsilateral haemangiomas (collection of small blood vessels that form a lump under skin) within brain –? contralateral focal fits.
  • Calcification of leptomeninges
  • Glaucoma, hemiplegia
  • Learning impairment
37
Q

Sturge-Weber syndrome aetiology?

A
  • Encephalotrigeminal angiomatosis
  • Angiomas = benign tumours made up of blood vessels
38
Q

Peutz-Jeghers Syndrome clinical features?

A
  • Mucocutaneous dark freckles on lips/oral mucosa
  • Perioral pigmentation presents as multiple benign freckles
  • Multiple blood blisters on lips and oral cavity
  • Genetic risk bowel cancer
  • GI polyps or bleeds
39
Q

Peutz-Jeghers Syndrome aetiology?

A

AD condition
Genetically inherited condition
Increased melanin production

40
Q

Tuberous Sclerosis clinical features?

A
  • Facial angiofibromas (patches of fibromas on skin with multiple small raised lobules)
  • Angiofibromas - small bumps made up of blood vessels and fibrous tissues.
  • Hypomelanotic macules
  • Forehead plaques
  • Shagreen patches
  • Rhabdomyomas = benign tumour of striated muscle
41
Q

Tuberous Sclerosis aetiology?

A

AD condition or sporadic gene mutation resulting in loss of control of cell growth and cell division.
Therefore a predisposition to forming benign tumours.
Overgrowth of tissues.

42
Q

Tuberous Sclerosis dental features?

A

At risk of myxomas
Dental enamel pits

43
Q

Ehler Danlos syndrome clinical features?

A
  • Hyperplastic skin
  • Hypermobile loose joints
  • Aneurysms, GI bleeds and easy bruising
  • Mitral valve prolapse with incompetence
44
Q

Ehler Danlos syndrome aetiology?

A

Mutations in genes responsible for collagen production
Don’t produce collagen –> reduced mechanical strength of connective tissue
10 types

45
Q

Ehler Danlos Syndrome dental features?

A

Recurent TMJ dislocation
Deeply fissured premolars
Short deformed roots
Multiple large pulp stones
Early perio onset (types 4, 8. and 9)
Resistance to LA (type 3)

46
Q

Hereditary haemorrhagic telaniectasia (Osler-Rendu-Weber Syndrome) clinical features?

A
  • presence of multiple telangiectasias (small dilated blood vessels near skin or mucous membranes)
  • pulmonary, hepatic and cerebral AVMs
  • chronic GI bleeding may lead to anaemia
47
Q

Hereditary Haemorrhagic Telangiectasia (Osler-Rendu-Weber Syndrome) aetiology?

A

AD condition
Abnormal blood vessel formation
Arteriovenous malformations (AVMs) develop between arteries and veins

48
Q

Treacher Collins Syndrome clinical features?

A

Downward slanting eyes
Underdeveloped zygoma
Drooping lower lateral eyelids
Malformed or absent ears
Conductive hearing loss

49
Q

Treacher Collin Syndrome aetiology?

A

AD mandibulofacial dysostosis due to mutations in TCOF1 gene (treacle protein)

50
Q

Treacher Collins Syndrome dental relevance?

A

Micrognathia = child has a very small lower jaw
Cleft palate

51
Q

Melkerson Rosenthal Syndrome clinical features?

A

Recurring facial palsy
Facial swelling (granulomatous cheilitis - swelling of lips)

52
Q

Melkerson Rosenthal Syndrome aetiology?

A

Granulomas affect facial nerve
Granulomas = small areas of inflammation

53
Q

Melkerson Rosenthal Syndrome dental relevance?

A

Fissured tongue

54
Q

Heerfordt Syndrome clinical features?

A

Parotid and lacrimal gland swelling
Chronic fever
Facial palsy
Uveitis (eye inflammation)

55
Q

Heerfordt Syndrome aetiology?

A

Rare syndrome seen within sarcoidosis (small patches of red and swollen tissue)

56
Q

Ramsay Hunt syndrome clinical features?

A

Ipsilateral pharyngeal and ear vesicles
Rash affecting ear or mouth
LMN type facial palsy
Vertigo and deafness
Tinnitus (ringing in ears)
Loss of taste

57
Q

Ramsay Hunt Syndrome aetiology?

A

Herpes Zoster infection affecting the facial nerve via the geniculate ganglion
Neurological condition characterised by paralysis of facial nerve

58
Q

Pierre-Robin Sequence clinical features?

A

Babies born with small lower jaw
Difficulties breathing due to airway obstruction

59
Q

Pierre-Robin Sequence dental relevance?

A
  • Micrognathia = child has very small lower jaw
  • Glossoptosis = downward displacement or retraction of tongue
  • High arched palate
  • Cleft palate
60
Q

Riley Day Syndrome clinical features?

A
  • repeated episodes of self-mutilation involving teeth, lips, tongue, nose, fingers.
  • digital and facial fractures
  • extensive burns
  • emotional instability
  • low BP (postural hypotension)
61
Q

Riley Day Syndrome aetiology?

A

Dysfunction of autonomic nervous system
Congenital insensitivity to pain (types 1-5)
Insensitivity to pain causing burning, biting and blistering of body.

62
Q

Riley Day Syndrome dental relevance?

A

Self-extraction of teeth
Ulceration on lateral borders of tongue due to chewing

63
Q

Marcus Gunn Jaw Winking syndrome clinical features?

A

AD trigeminal-oculomotor synkinesis
Droopy eyelid (ptosis)
Condition usually only affects one eye and more noticeable when child looking down
Abnormal connection of trigeminal nerve to upper eyelid

64
Q

Marcus Gunn Jaw Winking Syndrome aetiology?

A

Develops before birth
Stimulation of trigeminal nerve by contraction of pterygoid muscles of jaw results in excitation of the branch of the oculomotor nerve that innervates the ipsilateral levator palpebrae superioris.

Revision (11 decks)

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