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Peds III > Syndromes II > Flashcards

Syndromes II Flashcards

(46 cards)

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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?

Study These Flashcards
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)

Study These Flashcards
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)

Study These Flashcards
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?

23
Q

What is the ectodermal dysplasia triad?

Study These Flashcards
A
  • Hypohidrosis
  • Hypodonta
  • Hypotrichosis
24
Q

What is anhidrotic ectodermal dysplasia?

Study These Flashcards
A
  • frontal area bulging
  • depressed nasal bridge
  • prominent lips
  • loss of the vertical dimension
25
What dental malformations occur with anhidrotic ectodermal dysplasia ? (3)
``` • Teeth with structural type anomalies (enamel), conical teeth • Atrophy of alveolar processes • Other: Atopic dermatitis, hypoganmaglobulinemia, palmoplantar hyperkeratosis ```
26
What type of inheitance does hypophosphatasia have?
recessive | *some forms are dominant
27
Papillon-lefevre syndrome inheritance?
recessive
28
What causes hypophosphatasia?
- ezymatic deficiency that produces a decrease of the alcaline phosphatase. - leads to an irregular ossification of the cartilage and bone
29
How frequent is hypophosphatasia?
1/100000 births
30
What is the treatment of hypophosphatasia? (3)
- phosphorus - vitamine D - parathormone
31
How many presentations of hypophophatsaia are there?
4 - neonatal - infantile - childhood - adult
32
When does infantile hypophophatasia occur?
First 6 months of life
33
What are the symptoms of infantile hypophosphatasia? (6)
- Craniosynostosis - short height - convulsions - arched legs - mental disability (intracraneal HT) - premature loss of the teeth
34
50 % of cases of infantile hypophosphatasia death is caused by...
breathing failures
35
Hypophosphatasia childhood presentation? (3)
- 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
Hypophosphatasia adult presentation? (2)
- bone demineralization | - fractures
37
How common is papillon-lefevre syndrome?
1-3/1,000.000 births
38
When does papillon-lefevre syndrome appear?
first three years of life
39
Why does papillon-lefevre syndrome occur? (3)
Alteration of chromosome 11 and mutations of 12 and 17
40
What is papillon-lefevre syndrome? (3)
* Hyperqueratosis in hands and feet, with rashes and painful fissures. * Hypohidrosis * Repetative infections in the skin and organs (alteration of the neutrofils)
41
Dental abnormalities in papillon-lefevre syndrome?
• 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
Down-syndrome inheritance?
Autosomal anomaly
43
Why does down syndrome occur?
trisomy of chromosome 21
44
What occurs with down sydrome? (3)
• Mental disability • Periodontal disease in 90% of the patients • Heart alterations in 40% of the patients
45
What craniofacial alterations do people with down syndrome have? (5)
* Brachicephalia with flat occipital * Microcephalia * Brushfield spots in the iris * Small nose with depressed bridge * Internal epicanthic folds and mongoloid eyes
46
What oral alterations do people with down syndrome have? (12)
* 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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