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Peds III > Syndromes > Flashcards

Syndromes Flashcards

1
Q

Define congenital anomalies

A

structural or functional anomalies that occur during intrauterine life and
can be identified prenatally, at birth, or sometimes may only be detected later in infancy

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2
Q

Define deformation

A

Result of a mechanical defect without basic morphogenic defect

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3
Q

Define disruption

A

Result of the destruction of a structure normally formed

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4
Q

Define malformation

A

Intrinsic alteration of the affected tissue

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5
Q

Define dysplasia

A

Result of the differentiation and organization of a tissue

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6
Q

Genetic factors make up ____% of congenital malformations

A

90%

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7
Q

Environmental factors make up ____% of congenital malformations

A

1-%

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8
Q

What types of drugs can contribute to congenital malformations? (5)

A
  • alcohol
  • anticonvulsants
  • antithyroid
  • lithium
  • thalidomine
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9
Q

What congenital infections can contribute to congenital malformations? (5)

A
  • Toxoplasmosis
  • rubeola
  • CMV
  • herpes
  • syphilis
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10
Q

What maternal disorders can contribute to congenital malformations? (3)

A
  • Diabetes
  • Phenylketonuria
  • Maternal hyperthermia
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11
Q

What physical agent can contribute to congenital malformations?

A

Ionizing radiation

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12
Q

The most frequent congenital malformations are? What are they related to? (3)

A

Cleft palate and Craniosynostosis

May or may not be associated to syndromes

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13
Q

Cleft palate makes up ____% of the total craniofacial malformations

A

15

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14
Q

Cleft palate affects ____ of births. Frequently in which ethnicities? (3)

A

1/1000 births.

Frequently in american and asian indians

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15
Q

What causes cleft palate?

A

Lack of coalescence between embryonic facial processes: No

union of nasomedial and maxillary process.

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16
Q

How many times is the palate formed?

A

Twice

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17
Q

When are the different palate formations?

A

• Primary palate: at the 6th week.
• Secondary palate: posterior part of the palate formed at
the 8th week

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18
Q

What is cleft lip?

A

Can range from a little notch in the coloured part of the lip to a
complete separation of the upper lip which can extend up and into the nose

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19
Q

What does complete cleft lip mean?

A

Meaning the cleft goes up into the nose

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20
Q

What is cleft palate?

A

A gap in the roof of the mouth

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21
Q

What divides the primary and secondary palate?

A

Incisive foramen

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22
Q

What was Victor Spina’s classification of cleft palate? (2)

A
  • In function of the anatomical extension of the fissures

- embryonic origin

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23
Q

What are Victor Spina’s fissures ? (3)

A
  • Transforament cleft
  • Post foramen cleft
  • Preforamen cleft
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24
Q

What are the affected areas for the transforamen cleft? (4)

A
  • lip
  • dental arch
  • hard and soft palate
  • up to the uvula
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25
Q

The transforamen cleft promotes…

A

total communication between nasal and oral cavities

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26
Q

The transforamen cleft can be…

A

unilateral or bilateral

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27
Q

What are the affected areas for the post-foramen cleft ?

A

Posterior palate

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28
Q

What are the affected areas for the pre-foramen cleft ?

A
  • lips

- primary teeth up to the incisor foramen

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29
Q

Clinical manifestations of preforamen cleft?

A

Great diversity of clinical manifestations

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30
Q

What is keith’s scar? (2)

A
  • Cut in cutaneous border of the lip

- seen in preforamen cleft

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31
Q

What happens in the pre-foramen cleft?

A

Rupture of maxilla & primary palate until the incisive foramen

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32
Q

Preforamen cleft laterality? (3)

A
  • Unilateral
  • bilateral
  • medium (lip filtrum)
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33
Q

Extension of fissure in post-foramen cleft?

A

Variable extension starting at the uvula towards the incisive foramen

34
Q

Post-foramen cleft: alveolar ridge?

A

Alveolar ridge remains complete even in the complete form

35
Q

Post foramen cleft problems? (3)

A
  • Not so important aesthetic problems: integral perioral musculature.
  • Functional functional problems: phonation and swallowing.
36
Q

Transforamen cleft fissures?

A

include primary and seconday palate

37
Q

Transforamen cleft laterality?

A

Can be uni, bilateral or occupy the midline of the maxilla

38
Q

Transforamen cleft segments?

A

Compromise from the lip to the uvula, dividing the maxilla into two segments or three (uni or bilateral

39
Q

What dental alterations occur with cleft palate? (4)

A
  • Loss of tooth support in teeth adjacent to the fissure
  • Deviation in the eruption lines
  • Slightly concave profile
  • Posterior crossed bite by the collapse of the maxilla
40
Q

What alterations (nondental) occur with cleft palate?

A
  • Auditory alterations: Otitis media suppurativa, hearing loss
  • Alterations in phonation
  • Alterations in swallowing and feeding
  • Psychological problems: self-esteem, rejection
41
Q

Cleft palate treatment at 2 weeks? (2)

A

Impression taking for maxillary obturator.

Pre-surgical maxillary orthopedics for segment approximation

42
Q

Cleft palate treatment at 3 months? (2)

A

Cheiloplasty.

Take impression for new shutter to
follow the growth

43
Q

Cleft palate treatment at 1 year?

A

palatoplasty

44
Q

Cleft palate treatment at 10-15 years?

A

Nasal bone surgery

45
Q

What is craniosynostosis?

A
  • premature closure of sutures produces a decrease in the
    growth in that area
  • compensatory growth in other sutures
46
Q

Craniosynostosis: head shape?

A

Depends on the fused suture, the age of the child at the moment of closure and the number of sutures involved

47
Q

Craniosynostosis: premature closure of sagital suture?

A

It limits the lateral growth—-Dolicocephalic

48
Q

Craniosynostosis: premature closure of cornoal suture?

A

It limits the sagital growth. It may be unilateral (plagicephalic) or bilateral (braquicephalic)

49
Q

Craniosynostosis: premature closure of metopic suture?

A

Trigonocephalic

50
Q

The metopic suture usually closes ….

A

At the 2nd - 6th month

51
Q

The coronal suture usually closes ….

A

Between the 6th and 12th month

52
Q

The sagittal suture usualy closes …

A

Between the 6th and 12th month

53
Q

Craniosynostosis may be associated with…? (2)

A

Blindness and mental disability

54
Q

What is oxicephalia? (3)

A
  • Craniosyntosis
  • bilateral affectation of coronal and sagittal sutures
  • produces cranial hypertension (severest kind of craniosyntosis)
55
Q

Oxicephalia doesnt affect… (2)

A

Doesn’t affect facial and cranial base growth

56
Q

Craniosynostosis treatment? (2)

A
  • The postural plagiocephaly is corrected with helmets.

* If necessary lineal craniotomy

57
Q

What type of inheritance does Van der Woude syndrome have?

A

Autosomal dominant

58
Q

What type of inheritance does Crouzon syndrome have?

A

Autosomal dominant

59
Q

Apert syndrome inheritance?

A

Autosomal dominant

60
Q

Cleidocranial dysostosis inheritance?

A

Autosomal dominant

61
Q

Nasofrontal dyslasia inheritance?

A

Autosomal dominant

62
Q

Franceschetti syndrome inheritance?

A

Autosomal dominant

63
Q

Otomandibular dysostosis inheritance?

A

Autosomal dominant

64
Q

Pierre-robin syndrome inheritance?

A

Autosomal dominant

65
Q

Tricho dento osseous symdrome inheritance?

A

Autosomal dominant

66
Q

Ostogenesis imperfecta inheritance?

A

Autosomal dominant

67
Q

Acondroplasia inheritance?

A

Autosomal dominant

68
Q

Van de woude syndrome? (3)

A
  • Abnormal depressions and prominences in the lower lip (88%).
  • Dental agenesis.
  • It is the most frequent form of syndromic cleft palate.
69
Q

What are the two types of Van de woude syndrome? (3)

A
  • cleft lip with or without cleft palate

- cleft palate only

70
Q

What is the most frequent form of syndromic cleft palate?

A

Van de woude syndrome

71
Q

What is another name for crouzon syndrome?

A

craniofacial dysostosis

72
Q

What is crouzon syndrome? (2)

A
  • Premature cranial sinostosis producing facial malformations.
  • Hypertelorism and exophthalmos
73
Q

Crouzon syndrome treatment? (2)

A

• Lefort III osteotomy with complete facial advance (4-5
years).
• Progressive bone distraction of the facial middle third

74
Q

At what age do we treat crouzon sydrome?

A

4-5 years old for the lefort 3 ostectomy

75
Q

What is another name for apert syndrome?

A

Acrocephalosyndactyly

76
Q

What is apert syndrome? (6)

A
  • Premasture fusion of coronal and sagital sutures
  • hypoplasia of facial middle third (present at birth)
  • Wide nose, hypertelorism and exphthalmos
  • heart alterations and mental disability
  • syndactyly in hands and feet (fingers 2, 3, 4 fused)
  • aplasia and ankylosis of articulations
77
Q

Dental manifestations of crouzon syndrome?

A 
Nasomaxilar retrusion
creating a false prognatism and a class III malocclusion.
78
Q

Dental manifestations of apert syndrome? (3)

A
  • Frequent class III

- open or cross bite

79
Q

What is cleidocraneal dysostosis? (2)

A
  • Delayed closure of the anterior fontanella, producing a prominence of the frontal and
    parietal bones—-> Brachycephalic skull.
  • Aplasia or hypoplasia of the collarbone
80
Q

What are the dental manifestations of cleidocraneal dysostosis? (4)

A
  • Brachycephalic skull
  • Class III malocclusion
  • delayed eruption
  • supernumerary teeth
81
Q

What is nasofrontal dysplasia? (4)

A
  • Hypertelorism
  • Non complete formation of the nose tip.
  • Bifid anterior skull (V shaped)
  • Cleft in the nose or lip

Peds III (9 decks)

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