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Structurally Related Disorders SLP > Lecture 2 > Flashcards

Lecture 2 Flashcards

1
Q

T or F: Fewer than 3% of children with clefts had associated features.

A

True

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2
Q

The prevalence of syndromic CLP is ____

A

30%

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3
Q

The prevalence of non-syndromic CLP is _____

A

70%

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4
Q

Define syndrome:

A

The recurrent pattern of symptoms of a multi-anomaly disorder are related to a single cause.

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5
Q

Define sequence:

A

The recurrent pattern of symptoms of a multi-anomaly disorder are related to an initial anomaly ( chain reaction effect)

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6
Q

Define association:

A

Two or more anomalies are observed in a recurrent pattern but it is not clear if there is an underlying common etiology or sequence of events.

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7
Q

What are two types of anomalies?

A

Deformations and Malformations

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8
Q

Define Deformations:

A

The cause of the anomaly is extrinsic, usually arising from mechanical stress such as bending or compression.

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9
Q

Define Malformations:

A

The cause of the malformation is intrinsic (ie. an organ developed wrong due to genetic code)

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10
Q

List the 4 embryonic structures in the adult face:

A

Median Nasal prominence
Lateral Nasal prominence
Maxillary prominence
Mandibular prominence

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11
Q

What are anthropometric measures of the normal adult face?

A

Divided in thirds:

Vertical relationship and Horizontal relationship

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12
Q

Describe where the 4 lines are for the vertical relationship:

A

Hairline
Eyebrows
Bottom of nose
Bottom of chin

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13
Q

Describe where the 2 sets of lines are for the horizontal relationship:

A

The inner corner of the eye and sides of largest part of nose
The inner side of the iris and the corners of the mouth

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14
Q

Hypertelorism is when the ______ are _____

A

eyes

too far apart

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15
Q

Hyportelorism is when the ______ are _____

A

eyes

too close together

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16
Q

Telecanthus is when the ______ are _____

A

irises
not centred in the eye and are close together
(also called dystopia canthorim)

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17
Q

The orientation of the palpebral fissure of the eye is important because an upslant may indicate _______ and a downslant may indicate

A

microcephaly

intracranial pressure

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18
Q

Where is the normal ear placement?

A

Top of the ear is level with the eye, front of the ear is in line with the front of the neck

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19
Q

Brachydactyly is ______

A

short fingers

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20
Q

A club foot is an example of a ________.

A

deformation

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21
Q

Amnion rupture sequence is an example of a _______

A

deformation

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22
Q

After mechanical rupture of the amniotic sac, amniotic bands may attach to the embryo and restrict intrauterine growth. This is called ______

A

Amnion rupture sequence
AKA:
Amniotic deformity, adhesion and mutilation (ADAM)

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23
Q

Is Pierre-Robin a malformation or a deformation?

A

Could be either:

  • if the micrognathia was mechanically induced (deformation) the mandibula will show a postnatalcatch up
  • if congenital malformation no catch up grow will occur
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24
Q

What are the symptoms of Pierre-Robins Sequence?

A

Micrognathia - tongue looks too big for the oral cavity:
glossoptosis (backwards collapse of tongue -leads to apnea)
cleft palate

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25
Q

Describe the 4 possible initial treatment options for the respiratory distress

A

Tracheotomy and gastric tube (baby can’t cry)
Glossopexy (fix tongue to lip)
Mandibular distraction (break it and make it longer)
Mandibular distraction osteogenesis (like braces for jaw, a screw thing to slowly move out)

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26
Q

Describe the feeding problems in Pierre Robin

A
  • proportional to airway problems
  • glossoptosis affects thrust of tongue needed to suck
  • Reflux
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27
Q

Is pierre Robins a seqence or syndrome?

A

Pierre Robin Sequence is a sequence. It occurs in more than 30 different syndromes including 22q11 etc.

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28
Q

List the 9 types of syndromes discussed in class:

A

1) Van-der-Woude Syndrome
2) Stickler Syndrome
3) Velocardiofacial syndrome (22q11)
4) Beckwith-wiedemann Syndrome
5) Down Syndrome Trisomy 21
6) Oculo-aurico-vertebral spectrum ( goldenhar)
7) Mandibulofacial dystosis (Treacher-Collins)
8) Holoprosencephaly Sequence
9) Dyscraniosynostosis Syndromes

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29
Q 
Stickler syndrome
Velocardiofacial syndrome (22q11)
Mandibulfacial dystosis (Treacher Collins)
Moebius Syndrome
Fetal Alcohol Syndrome
All have \_\_\_\_\_\_\_
A

Pierre Robins sequence

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30
Q
  • Autosomal dominant inheritance

- Cleft lip / palate and paramedian pits of the lower lip is which syndrome

A

Van-der-Woude syndrome

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31
Q

Describe the face of Stickler syndrome:

A

Large eyes
Low ear
Small mouth

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32
Q

Describe 4 symptoms of stickler syndrome:

A

1) pierre-robin sequence
2) progressive arthropathy
3) progressive myopia and retinal detachment
4) progressive sensorineural hearing loss

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33
Q

T or F: Shprintzen- Syndrome, Sedlackovva- Syndrome, DiGeorge- Syndrome are all the same thing

A

True - Otherwise known as Velocardiofacial syndrome

34
Q

Velocardiofacial syndrome has ________ inheritance and involved a microdeletion on the long arm of chromosome ____ in 75% of cases

A

autosomal dominant inheritance

22

35
Q

22q11 microdeletion is also known as ______________

A

velocardiofacial syndrome

36
Q

Velocardiofacial syndrome has a prevalence of ___/____. _______% of the cases are inherited and ____% are new cases. There is no ethnic predilection.

A

1/2000
5-10% inherited
90-95% new cases

37
Q

List three types of anomalies in velocardiofacial syndrome:

A

1) Velar anomalies
2) Cardial anomalies
3) Facial anomalies

38
Q

Describe Velar anomalies in Velocardiofacial syndrome:

A

Cleft palate

(occult) submucous cleft palate

39
Q

T or F: There is a conotruncal (heart) malformation in Velocardiofacial syndrome

A

True

40
Q

T or F: Facial anomalies in velocardiofacial syndrome include a short face

A

False - a prolonged midface

41
Q

T or F: Velocardiofacial syndrome results in susceptibility to viral infections and autoimmune disease

A

True - They have mild/ moderate immunodeficiency, absent or hypoplastic thalamus, intact repertoire but reduced number of T-cells

42
Q

Communication disorders in velocariofacial syndrome includes:

A
  • delayed, disordered, hypernasal speech

- delayed or disordered language

43
Q

Neurodevelopment and psychiatric features of Velocardiofacial syndrome include:

A

1) Learning disabilities
2) Behavioural disorders (ADHD, anxiety, phobia, socially immature)
3) Psychiatric disorders

44
Q

People with velocardiofacial syndrome have ___ lifetime risk of major psychiatric disorder (schizophrenia, bipolar)

A

30%

45
Q

What syndrome presents with a baby that is large at birth, has accelerated growth, macroglossia, mandibular prognathism, enlarged internal organs, hypotonia and cognitive impairment?

A

Beckwith-Wiedemann Syndrome

46
Q

Describe Beckwith-Wiedemann Syndrome

A
  • a baby that is large at birth
  • has accelerated growth
  • macroglossia
  • mandibular prognathism
  • enlarged internal organs
  • hypotonia
  • cognitive impairment
47
Q

Describe Down Syndrome:

A
  • extra chromosome 21
  • hypotonic protruding tongue,
  • maxillary hypoplasia
  • sometimes cleft lip and palate
  • flat back of the head
  • upslanting eyes
  • short neck and obesity
  • variable cognitive impairment
48
Q

What syndrome is associated with malformation of the branchial arch supposedly due to inrauterine vascular disruption?

A

Oculo-aurico-vertebral spectrum (goldenhar syndrome, hemifacial microsomia)

49
Q

Describe what you see with Oculo-aurico-vertebral spectrum (goldenhar syndrome, hemifacial microsomia):

A
  • Facial asymmetry
  • spinal anomalies
  • microtia with hearing loss
  • ocular anomalies
  • cleft palate (sometimes lip)
  • occaisional hear disease
50
Q

What syndrome consists of Facial asymmetry, spinal anomalies, microtia with hearing loss, ocular anomalies, cleft palate (sometimes lip), occasional heart disease

A

Oculo-aurico-vertebral spectrum

goldenhar syndrome, hemifacial microsomia

51
Q

Treacher Collins Syndrome / Francheschetti Syndrome are otherwise known as _________

A

Mandibulofacial Dsytosis

52
Q

Mandibulofacial Dystosis is due to malformation of __________

A

the first branchial arch

53
Q

Describe the symptoms of Mandibulofacial Dystosis:

A
  • Maxillary and mandibular hypoplasia
  • microstomia with downslant of mouth corners
  • hypoplasiaof the zygomaticum
  • downslant of eyes
  • coloboma (cleft) of lower eyelid
  • dysplasia of pinna
  • variable middle and inner ear malformations
54
Q

___________ involved severe congenital dysplasia with incomplete differentiation of the prosencephalon, hypertelorism, reduced nasal height and width, aplasia of nasal septum, cleft lip and palate. Usually death within the first year but some milder forms.

A

Holoprosencephaly Sequence

55
Q

Dyscraniosynostosis Syndromes are due to _______

A

premature fusion of the cranial bones wich may lead to intra cranial pressure and abnormal shape of the head.

56
Q

List the 4 Dyscraniosynostosis syndromes:

A

1) Apert’s Syndrome
2) Crouzon’s Syndrome
3) Pfeiffer’s Syndrome
4) Saethre-Chotzen Syndrome

57
Q

Which Dyscraniosynostosis syndrome is the most severe?

A

Aper’s Syndrome

58
Q

T or F: The same terminology is used for normal and pathological skull shape variations

A

True

59
Q

_________ means short skull

A

Brachycephalus

60
Q

________ means boat/ long skull

A

Skaphocephalus

61
Q

________ means leaf-shaped/ triangular skull

A

Trigonocephalus

62
Q

________ means asymmetric skull

A

Plagiocephalus

63
Q

______ means tower/ pointy skull

A

Oxycephalus

64
Q

T or F: Trigonocephalus results from metopic suture dyscraniosynostosis.

A

True - the metopic suture fuses prematurely

65
Q

Skaphocephalus results in a compressed form of the skulls from premature closure of the _____ suture. The fronto-occipital volume is _______, and the coronal sutures may be palpable

A 
sagittal suture (long skull)
increased
66
Q

Plagiocephalus results from unilateral ________ suture dyscraniosynostosis. Positional plagiocephalus can be caused by_______

A

lambdoidal suture

leaving the baby on the back constantly

67
Q

Pathological dyscraniosynostosis may result in increased __________ pressure

A

intracranial pressure

68
Q

_________ results from a hypoplastic midface. It has a frontal open bite, lateral crossbite and pseudo prognathis

A

clover-leaf skull

69
Q

There is 2 % of cognitive disability in the normal population and ____% in non-syndromic isolated dyscraniosynostosis

A

4-6%

70
Q

T or F: Craniosysnostosis (skull) surgery will result in increased brain growth.

A

False- craniosynostosis (skull) and microcephaly (brain) are independent process. May but not necessarily.

71
Q

You can change the shape of the skull through ________ or ________.

A

surgery

conservative helmet/ headband therapy

72
Q

Apert’s syndrome, Crouzon Syndrom, Pfeiffer’s Syndrome are due to an autosomal dominant mutation on chromosome ____

A

Chromosome 10

73
Q

Dyscraniosynostosis of the coronal (among other) sutures, clover-shape, popping out eyes, syndactyly of fingers/ toes, short upper arms, hydrocephalus, Class 3 occlusion (underbite?), cognitive impairment, sometimes cleft is_________

A

Apert’s Syndrome

74
Q

____ % of Apert syndrome includes a cleft palate

A

30%

75
Q

Apert’s syndrome is also called _____________

A

Acrocephalosyndactyly - Type 1

76
Q

Management options for Apert’s Syndrome include:

A
  • Skull reshaping
  • Midface advancement, trache, CPAP for respiratory issues
  • Ear tubes - for middle ear disease
  • Shunts
  • Orthodontics
77
Q

T or F: Crouzo syndrome is pretty much the same as Apert’s but less severe

A

True

78
Q

Pfeiffer’s syndrome is _______ craniosynostosis of coronal sutures for clover leaf skull, maxillary hypoplasia, hyper telorism and broad ______ and _____

A

progressive

broad thumbs and toes

79
Q

Saethre-Chotzen Syndrome has a slightly pointy skull. It is otherwise known as ____________

A

Acrocephaloxyndactyly- Type 3

80
Q

T or F: Saethre-Chotzen Syndrome has autosomal dominant inheritance of (7p21)

A

True

81
Q

T or F: Saethre-Chotzen involves craniosynostosis and a low hairline

A

True

Structurally Related Disorders SLP (7 decks)

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