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Peds III > Syndromes II > Flashcards

Syndromes II Flashcards

1
Q

What causes the tricho dento osseous syndrome?

A

DLX3 gene mutation

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2
Q

What is tricho dento osseous sydrome?

A

Main affectation of:
• Hair: curly
• Teeth (100%): enamel alterations and taurodontism
• Bone (93% in the skull) Increased density

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3
Q

What is treacher collins syndrome also known as? (2)

A
  • Madibulofacial dysostosis.

- Franceschetti syndrome

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4
Q

What percent of people with treacher collins have mental disability?

A

5%

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5
Q

What is treacher collins syndrome? (5)

A
  • downslating palpebral fissures
  • coloboma of outer third eyelid
  • aplasia or hypoplasia of malar bones
  • deformed ear
  • mandibular, maxilar, paranasal sinus and nasal hypoplasia
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6
Q

What dental malformations occur with treacher collins syndrome?

A

Frequent open bite assoicated with cleft palate

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7
Q

Treacher collins syndrome treatment? (3)

A
  • Ortognatic surgery.
  • Ortho treatment.
  • Take into account cardiac congenital defects while doing dental treatments.
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8
Q

What are the different levels of affectation for otomandibular dysostosis? (3)

A

From only ear deformation to hemifacial microsomia or even goldenhar syndrome

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9
Q

What is hemifacial microsomia? (4)

A
  • Part of otomandibular dysostosis
  • Facial asymmetry
  • mandibular hypoplasia
  • macrostomia
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10
Q

What is goldenhar syndrome? (5)

A
  • Part of otomandibular dysostosis
  • hearing loss (30%)
  • vertebral alteration
  • heart alterations
  • maxilar and malar hypoplasia
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11
Q

What is otomandibular dysostosis? (4)

A 
• Usually unilateral (15%-30% bilateral)
• Adjacent structures affected:
congenital facial paralysis, muscle
hipoplasia.
• Agenesia or hypotrophy of the parotid
gland.
• Skin affected and subcutaneous
cellular tissue retracted
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12
Q

What is the pierre-robin syndrome triad? (3)

A
  • micrognathia
  • cleft palate
  • retroglossoptosis
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13
Q

Pierre-robin syndrome can be decribed as ____ face

A

bird

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14
Q

What is pierre-robin syndrome? (3)

A

• Alteration in breathing, with asfixia alterations and
difficulties in inspiration and many breathing
infections.
• Difficulties in eating
• Pierre Robin sequence

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15
Q

What is the first objective in treating pierre-robin syndrome?

A

Control pharyngeal obstruction

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16
Q

How does 1st objective treatment of pierre roin syndrome go? (5)

A
  • Neonates in prone position
  • Lingual traction with external points ??
  • Tracheotomy
  • Mandibular distractor
  • Nasopharyngeal tube
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17
Q

What is the second objective in treating pierre-robin syndrome?

A

feeding

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18
Q

How does 2nd objective treatment of pierre roin syndrome go? (3)

A

• Nasogastric tube
• Special teats
• Additional contributions: great energy expenditure
due to respiratory demand.

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19
Q

What is osterogenesis imprefecta?

A

• Alteration in the collagen maturation.
• Bone fragility, blue esclerotica, hearing alterations and dental
alterations.
• Bulging skull

20
Q

What dental alterations occur with osteogenesis imperfecta? (9)

A

• Tooth color between translucent blue and
dark brown with an opalescent tone.
• Teeth with normal shape and structure when
erupting.
• Normal chewing function produces extreme
vertical dimension loss.
• Greater involvement of temporary dentition
and of permanent teeth that erupt before.
• Bell-shaped crowns
• Obliteration of pulp chambers
• Short, blunt roots
• Low susceptibility to decay
• Great restriction

21
Q

What is acondroplasia? (5)

A 
• Dwarfism with short limbs.
• Big skull vault, frontal and occipital
protuberances
• Short nasal bones, deformed and depressed
• Hypoplasic maxilar with normal
mandible——> Prognatism
• Alteration of the cartilage
22
Q

anhidrotic ectodermal dysplasia inheritance?

A

Sex

23
Q

What is the ectodermal dysplasia triad?

A
  • Hypohidrosis
  • Hypodonta
  • Hypotrichosis
24
Q

What is anhidrotic ectodermal dysplasia?

A
  • frontal area bulging
  • depressed nasal bridge
  • prominent lips
  • loss of the vertical dimension
25
Q

What dental malformations occur with anhidrotic ectodermal dysplasia ? (3)

A 
• Teeth with structural type anomalies
(enamel), conical teeth
• Atrophy of alveolar processes
• Other: Atopic dermatitis,
hypoganmaglobulinemia, palmoplantar
hyperkeratosis
26
Q

What type of inheitance does hypophosphatasia have?

A

recessive

*some forms are dominant

27
Q

Papillon-lefevre syndrome inheritance?

A

recessive

28
Q

What causes hypophosphatasia?

A
  • ezymatic deficiency that produces a decrease of the
    alcaline phosphatase.
  • leads to an irregular ossification of
    the cartilage and bone
29
Q

How frequent is hypophosphatasia?

A

1/100000 births

30
Q

What is the treatment of hypophosphatasia? (3)

A
  • phosphorus
  • vitamine D
  • parathormone
31
Q

How many presentations of hypophophatsaia are there?

A

4

  • neonatal
  • infantile
  • childhood
  • adult
32
Q

When does infantile hypophophatasia occur?

A

First 6 months of life

33
Q

What are the symptoms of infantile hypophosphatasia? (6)

A
  • Craniosynostosis
  • short height
  • convulsions
  • arched legs
  • mental disability (intracraneal HT)
  • premature loss of the
    teeth
34
Q

50 % of cases of infantile hypophosphatasia death is caused by…

A

breathing failures

35
Q

Hypophosphatasia childhood presentation? (3)

A
  • Different levels of severity:
    from dental anomalies to presentation similar to
    rickets.
  • Delayed eruption and premature loss of the dentition.
  • Alveolar destruction and widening of the pulp chambers.
36
Q

Hypophosphatasia adult presentation? (2)

A
  • bone demineralization

- fractures

37
Q

How common is papillon-lefevre syndrome?

A

1-3/1,000.000 births

38
Q

When does papillon-lefevre syndrome appear?

A

first three years of life

39
Q

Why does papillon-lefevre syndrome occur? (3)

A

Alteration of chromosome 11 and mutations of 12 and 17

40
Q

What is papillon-lefevre syndrome? (3)

A
  • Hyperqueratosis in hands and feet, with rashes and painful fissures.
  • Hypohidrosis
  • Repetative infections in the skin and organs (alteration of the neutrofils)
41
Q

Dental abnormalities in papillon-lefevre syndrome?

A

• Advanced periodontitis, premature exfoliation of the primary dentition
(3-4 years) and permanent dentition (14 years old).
• Dental caries. Frequently halitosis, ulcers and bleeding gums,
premature tooth loss
• Debut for hyperkeratosis or periodontal disease

42
Q

Down-syndrome inheritance?

A

Autosomal anomaly

43
Q

Why does down syndrome occur?

A

trisomy of chromosome 21

44
Q

What occurs with down sydrome? (3)

A

• Mental disability
• Periodontal disease in 90% of the patients
• Heart alterations in 40% of the
patients

45
Q

What craniofacial alterations do people with down syndrome have? (5)

A
  • Brachicephalia with flat occipital
  • Microcephalia
  • Brushfield spots in the iris
  • Small nose with depressed bridge
  • Internal epicanthic folds and mongoloid eyes
46
Q

What oral alterations do people with down syndrome have? (12)

A
  • Delayed dental eruption: 75% eruption of the first tooh at 9 months
  • Agenesis (38,6-63%) The most affected tooth is the upper lateral incisor
  • Microdontia: in permanent molars and premolars
  • Hypocalcification of the enamel (20%)
  • Taurodontism (36,4%)
  • Big tongue with chelitis and protrusion. It may be also fissured (1/3 of cases)
  • Bifid uvula
  • Narrow palate
  • Periodontal disease
  • Open bite, anterior teeth crowding, posterior crossbite. Maxilar hypoplasisa, class III

Peds III (9 decks)

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