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craniofacial anomalies > Week 1 > Flashcards

Week 1 Flashcards

Embryology & Genetics

1
Q

Trilaminar embryonic disc has what three parts?

A
  • Endoderm
  • Mesoderm
  • Ectoderm
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2
Q

Disc thickening happens at which end?

A

The cranial end

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3
Q

Ectoderm

A

all contact with outside world + CNS, PSN - some cells are neuroectodermal cells

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4
Q

What are neuroectodermal cells?

A

Form the neural plate

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5
Q

Invagination

A

Inpocking which forms the neural groove, neural folds, and neural tube

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6
Q

Subcutaneous neural crest cells are found where?

A

Top most level of the dorsal side

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7
Q

What happens in the 4th week in utero in terms of head/neck development?

A

Differentiated cells develop - placodes, somites, and pharyngeal apparatus

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8
Q

What are placodes?

A

Thickened areas of embryonic ectoderm that the sensory organs arise from

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9
Q

What are the three kinds of placodes?

A

Nasal, otic, and optic placodes

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10
Q

What are somites?

A

Paired masses of cells that develop caudally (from top to bottom) from the mesoderm at about day 20

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11
Q

What do somites become?

A

The axial skeleton, muscles, and dermis

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12
Q

Describe how somites develop

A

Caudally to about 42 pairs on the sides of the neural tube

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13
Q

What is the pharyngeal apparatus?

A

Pharyngeal arches that correspond to primitive gill bars/branchial arches. They consist of a core of mesenchyme covered externally by ectoderm and internally by endoderm.

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14
Q

Pharyngeal arches are separated externally by…

A

pharyngeal clefts

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15
Q

Pharyngeal aches are separated internally by…

A

pharyngeal pouches

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16
Q

When are ectodermal structures evident?

A

Around the fourth week

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17
Q

What do ectodermal structures participate in?

A

Ectodermal structures participate in the formation of nasal and oral structures

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18
Q

Where is mesenchymal tissue derived from?

A

Mesenchymal tissue is derived from mesoderm

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19
Q

What does mesenchymal tissue form?

A

Mesenchymal tissue forms the muscles associated with each arch

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20
Q

What creates the mesenchymal tissue?

A

Neural crest cells create mesenchymal tissue

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21
Q

Describe neural crest cell migration.

A

These cells migrate to form the skeletal portion arising from each arch. They’re underneath the ectodermal level dorsally and they migrate around what will be the face.

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22
Q

Pharyngeal Arch #1

A

“Mandibular” arch - associated with…
CN V
Muscles of mastication
Malleus, incus, maxillary process, and part of the mandible

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23
Q

Pharyngeal arch #2

A

“Hyoid” arch - associated with…
CN VII
Muscles of facial expression
Stapes & upper hyoid

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24
Q

Pharyngeal arch #3

A

Associated with…
CN IX
Stylopharyngeus
Lower hyoid

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25
Q

Which pharyngeal arches are somewhat joined together in terms of function?

A

Pharyngeal arch #4, #5, and #6

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26
Q

Pharyngeal arches #4-6

A

Associated with…
CN X
Cricothyroid, levator palatini, pharyngeal constrictors, intrinsic laryngeal muscles
Larynx

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27
Q

Pharyngeal pouches associated with pharyngeal arch #1

A

Tympanic cavity, auditory tube, eustachian tube

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28
Q

Pharyngeal groove associated with pharyngeal arch #1

A

External auditory meatus

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29
Q

Pharyngeal membrane associated with pharyngeal arch #1

A

Tympanic membrane

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30
Q

Pharyngeal puches, grooves, and/or membranes associated with pharyngeal arch #2

A

Tonsils

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31
Q

Pharyngeal pouches, grooves, and/or membranes associated with pharyngeal arch #3

A

Parathyroid gland, thymus

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32
Q

Pharyngeal pouches, grooves, and/or membranes associated with pharyngeal arch #4

A

Sup. parathyroid gland

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33
Q

When does facial development occur?

A

Facial development occurs between weeks 4-9

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34
Q

How is facial development organized?

A

Facial development is organized around central opening (stomodeum)

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35
Q

Describe how neural crest cells migrate in terms of facial development.

A

Neural crest cells migrate to stomodeal area from neural folds to form facial primordial.

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36
Q

What structures do the neural crest cells develop in facial development?

A
  • Frontonasal prominence (forebrain behind, nasal placodes on sides)
  • Maxillary prominences (upper part of arch #1)
  • Mandibular prominences
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37
Q

How many facial primordia are there?

A

5

  • Frontonasal prominence
  • Paired maxillary prominences
  • Paired mandibular prominences
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38
Q

The medial nasal prominences merge with…

A

The medial nasal prominences merge with each other and with lateral nasal and maxillary prominences

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39
Q

What is the nasolacrimal groove?

A

The nasolacrimal groove is between the lateral nasal and maxillary prominences and becomes the nasolacrimal duct.

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40
Q

What is the intermaxillary segment

A

The inter maxillary segment is the merger of the medial nasal prominences and it gives rise to the philtrum, premaxillary bones, and primary palate

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41
Q

Frontonasal prominence turns into… (3)

A

The forehead, dosum, & apex of the nose

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42
Q

The lateral nasal prominence turns into… (1)

A

The sides of the nose

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43
Q

The medial nasal prominence turns into… (4)

A

The nasal septum, philtrum, premaxilla, and primary palate

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44
Q

The maxillary prominence turns into… (3)

A

The upper cheek, most of the upper jaw, and the lip

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45
Q

The mandibular prominence turns into… (4)

A

The lower jaw, chin, lower lip, and lower cheek

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46
Q

Excess tissue in the frontonasal prominence (or frontonasal dysplasia) results in:

A

A broad nasal bridge, hypertelorism (wide set eyes), cleft nose, & median cleft lip. - often associated with other defects (cognitive, neurological, etc.)

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47
Q

Deficient tissue in the frontonasal prominence (or holoprosencephaly) results in:

A

Defective formation of forbrain (prosencephalon) which manifests as mid facial deficits. Wide range of facial defects ranging from short, upturned nose, deficient philtrum, arched palate, and microcephaly to medial nasal prominences, inter maxillary process fail to form, absence of nasal septum & ethmoid bone, single nostril (cebocephaly), hypotelorism or even cyclopia with proboscis

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48
Q

Describe the development of the nose

A

Around the 4th week, the nasal placodes form on frontonasal process. The medial and lateral nasal prominences with the depression in between will be the nostril. Nasolacriminal groove separates the lateral prominences from the maxillary prominences.

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49
Q

Describe the development of the inner ear.

A

~4th week the otic placodes invaginate and form otic pits which pinch themselves off from the ectodermal surface. - These auditory vesicles will form the membranous labyrinth of the inner ear and eventually the receptor cells of the inner ear.
~7th week: the auditory vesicle will differentiate into 3 parts

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50
Q

In the ~7th week, the auditory vesicle of the inner ear will differentiate into what? (3)

A
  • The endolymphatic duct with the endolymphatic sac at the end.
  • The utricle as well as utricular diverticula
  • The saccule, the cochlear duct, and the spiral organ of corti.
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51
Q

Describe the development of the middle ear.

A

The endoderm of the 1st pharyngeal pouch will line the ME cavity & auditory tube - bones of the ME are derived from the cartilage of the 1st & 2nd pharyngeal arches

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52
Q

When does the middle ear start to develop?

A

As the inner ear differentiates (~week 7)

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53
Q

What does the middle ear develop from?

A

The 1st and 2nd pharyngeal arches

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54
Q

When does the outer ear begin to develop?

A

~week 7

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55
Q

Describe the development of the outer ear

A

Six auricular hillocks arise on the pharyngeal arches. They begin to enlarge, differentiate, & fuse together to take the early form of the pinna. They move during the fetal period from the side of the neck to the sides of the head

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56
Q

When does the formation of the primary palate take place?

A

Formation of the primary palate takes place at the end of the 6th week (begins in week 5 but weeks 6-9 are most critical)

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57
Q

Describe the development of the primary palate

A

The maxillary and lateral nasal prominences merge at the nasolacrimal groove. Medial nasal prominences merge together and with maxillary and lateral nasal prominences to form inter maxillary segment. The segment produces the philtrum, pre maxilla, alveolar ridge - the primary palate

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58
Q

What forms the primary palate?

A

The inter-maillary segment (produces the philtrum, pre maxilla, & alveolar ridge)

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59
Q

What are the lateral palatine processes?

A

Ingrowths from maxillary prominences - eventually project horizontally above the tongue - fuse with each other, primary palate, and nasal septum

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60
Q

What is the nasal septum?

A

Downgrowth of medial nasal prominence - fusion with lateral palatine processes starts anteriorly, then moves back

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61
Q

What is the hard palate?

A

Includes part of the primary palate (pre maxilla) and the lateral palatine processes (maxilla)

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62
Q

What is the soft palate?

A

Unossified portion of lateral palatine processes.

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63
Q

Where does the PRIMARY palate end?

A

At the incisive foramen

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64
Q

What are the boarders of the SECONDARY palate?

A

SECONDARY palate consists of hard & soft palates, starting at the posterior boarder of the pre maxilla (incisive foramen) to the uvula.

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65
Q

Describe the development of the SECONDARY palate.

A

~6-12 weeks: lateral palatine processes (shelves) are formed - mandible creates space for tongue to drop (from nasal to oral cavities) - shelves become horizontal & fuse first with the pre maxilla at incisive foramen and then from front to back along the median palatine suture line (~8-10 weeks)- vomer descends and fuses w/superior palate - velum and uvula follow

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66
Q

Causes of clefts (most common birth defect) (4)

A
  • Chromosomal disorders
  • Genetic disorders
  • Environmental teratogens
  • Mechanical factors (some kind of pressing in utero)
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67
Q

Cleft lip & palate has a : ratio, males:females

A

2:1 (males:females)

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68
Q

Cleft palate has a : ratio, females:males

A

2:1 (females:males) - females are more likely to have cleft palate ALONE because their palate takes longer to form, prolonging their sensitive period

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69
Q

A unilateral cleft means what?

A

One shelf is attached to vomer

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70
Q

Kernahan classification: prolabium

A

Separated philtral tissue

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71
Q

Kernahan classification: Premaxilla

A

Extends to bone beneath (alveolus and anterior portion of the maxilla - 4 front teeth)

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72
Q

Kernahan classification: Fistulae through dehiscence

A

After an attempt to close the palate - it’s too snug so it tears back open (tight dress example)

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73
Q

Incidence of cleft lip (+/- cleft palate)

A

1 in 750

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74
Q

Incidence of cleft palate (only)

A

1 in 2500

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75
Q

Unilateral cleft lip development

A

Forms as a persistent labial groove - this groove should disappear as the maxillary prom. fuse with merged medial nasal prom. Stretching of epithelium causes tissue breakdown & cleft formation.

76
Q

Simonart band

A

Bridge of tissue spanning the cleft

77
Q

Bilateral cleft lip development

A

Forms as a persistent labial groove - this groove should disappear as the maxillary prom. fuse with merged medial nasal prom. Stretching of epithelium causes tissue breakdown & cleft formation. - central soft-tissue mass that moves freely

78
Q

Columella

A

provides extension of the nose off of the face - otherwise you would appear flat at profile

79
Q

Anterior cleft anomalies

A

Clefting of the alveolar process of maxilla as well as lip - complete extends to incisive foramen - results from failure of lateral palatine process to fuse to prim. palate

80
Q

Posterior cleft anomalies

A

Clefts extend through both soft & hard palate to incisive foramen - isolates anterior & posterior portion of the palate - results from failure of lateral palatine processes to grow medially and fuse to each other

81
Q

Embryological basis of anterior cleft palate (primary palate)

A

Lateral palatine processes fail to fuse with primary palate

82
Q

Embryological basis of posterior cleft palate (secondary palate)

A

Lateral palatine processes fail to fuse with each other AND with nasal septum

83
Q

Complete cleft palate (primary & secondary)

A

Lateral palatine processes fail to fuse with (1) each other, (2) with the nasal septum, and (3) with the primary palate

84
Q

Cleft lip: mechanism (2)

A
  • Hypoplasia (not enough tissue) in maxillary prom. leading to inadequate contact w/medial nasal prom. & intermaxillary segment
  • Due to: (1) inadequate migration of neural crest cells (2) excessive cell death (apoptosis)
85
Q

Cleft lip: Underlying cause

A

Multifactorial (genetics, teratogens)

Teratogenic drugs: anticonvulsants (dilantin), vitamin A, vitamin analogs: oral anti-acne drug (Accutane)

86
Q

Cleft palate: mechanism (5)

A
  • Failure of lateral palatine process to fuse.
  • Due to: (1) inadequate growth, (2) failure to elevate above tongue, (3) excessively wide head, (4) failure to fuse, (5) secondary rupture after fusing
87
Q

Cleft palate: Underlying cause

A

Multifactorial (genetics, teratogens)

  • Genetics: Trisomy 13
  • Teratogenic drugs: anticonvulsants
88
Q

what is a sub mucous cleft?

A

Tissues closed on the outside, but the muscles are cleft on the inside - there is no communication between the oral & nasal cavities, however, it’s only separated by tissue and no muscle

89
Q

Classic triad of stigmata of sub mucous cleft

A
  • Bifid uvula
  • Zone pellucida (bluish, thin mucosa)
  • Notch at posterior border of hard palate (V-notch
90
Q

Malformation (def & ex)

A

A morphologic defect of an organ, part of an organ, or larger area of the body resulting from an intrinsically abnormal developmental process.
Ex: Cleft lip

91
Q

Deformation (def & ex)

A

Abnormal form or position of a body part caused by non disruptive mechanical forces - usually late in fetal development - mechanical, malformational or functional
Ex: malformation of cleft palate results in a DEFORMATION which is that everything is open.

92
Q

Disruption (def & ex)

A

Defect of an organ, part of an organ, or a larger area of the body due to interference with a normal process - sporadic & rare
Ex: Amniotic bands leading to amputations

93
Q

Sequence (def & ex)

A

Multiple defects that occur as a result of a single presumed structural anomaly
Ex: Pierre Robin sequence (mandible not growing/moving forward is original malformation - triggers the sequence of tongue not descending and maxillary arches not closing)
-“A series of unfortunate events”

94
Q

Syndrome (def & ex)

A

Pattern of multiple anomalies believed to be pathogenetic ally related and not representing a sequence - pathogenesis less understood
Ex: Treacher-Collins syndrome (facial hypoplasia, cleft palate, hearing loss)
- If we see 3 different things in a child, that typically indicates a syndrome

95
Q

Association (def & ex)

A

Nonrandom occurrence of a group of anomalies in multiple individuals, not known to be a sequence or syndrome - alert clinicians to look for related problems.
Ex: CHARGE (a group of problems that are associated w/each other)

96
Q

The team approach includes: (11)

A

Parents, plastic/craniofacial surgeon, pediatrician, otolaryngologist, geneticist, SLP, AuD, anesthesiology, orthodontist/dentist, developmental specialist, teachers, etc.

97
Q

Management issues: (5)

A 
Upper airway obstruction
general health
hearing loss
speech disorders
developmental / cognitive / social issues
98
Q

Typical syndromal health management concerns (4)

A
  • Neonatal nasal obstruction (if they cannot breath through their nose, they cannot feed)
  • Neonatal oropharyngeal obstruction
  • Obstructive apnea
  • Airway maintenance for surgery
99
Q

Neonatal Nasal Airway Obstruction

A
  • Obligate nose breathers until >3 months
  • Problems when mouths closed / feeding
  • Ex: bilateral choanal/midface hypoplasia
  • Treatment with oral airway
100
Q

Neonatal oropharyngeal airway obstruction

A
  • Posterior displacement of tongue
  • Neonates with retro/micrognathia
  • Treatment: positioning (NO ‘BACK TO SLEEP!’), DOG (distraction osteogensis - break the bone, pull it apart a little, it will grow back together), tracheotomy if life threatening
  • Usually relived by 9 months
101
Q

Causes of obstructive apnea in children (5)

A

Variety of causes:

  • Maxillary hypoplasia
  • narrow nasopharynx
  • retrognathia
  • micrognathia
  • overcorrect VIP
102
Q

Operative procedures for children with obstructive apnea (6)

A
  • Adenotonsillectomy
  • tongue tethering
  • laser reduction of tongue base
  • mandible advancement
  • laser reduction of supra glottis
  • tracheotomy
103
Q

Airway problems w/surgery

A
  • Endotracheal intubation or tracheotomy
  • Indications for tracheotomy
  • Tracheotomy less common today
  • Perform w/airway control
104
Q

Indications for tracheotomy

A
  • Endotracheal intubation impossible, difficult extubation
  • Facilitate surgery & post-operative care
  • Inability to intubate nasally
105
Q

What % of cleft lip +/- palate is syndromal?

A

50%

106
Q

Common syndromes (6)

A
  • Apert & Crouzon syndromes (craniosynostosis)
  • Velocardiofacial syndrome (velum, heart, face)
  • Pierre Robin sequence
  • Hemifacial microsomia (half the face - small formation of face)
  • Treacher-Collins syndrome
  • CHARGE association
107
Q

What is craniosynostosis?

A

Premature closure of cranial sutures

108
Q

Primary craniosynostosis

A

Due to abnormalities of skull development

109
Q

Secondary craniosynostosis

A

Due to failure of brain growth and expansion - produces microcephaly

110
Q

Incidence of craniosynostosis

A

1 in 2,000-3,000 - more more common in males! - is a feature in 150+ syndromes

111
Q

Craniosynostosis mechanism

A

Unknown, perhaps cranial base abnormalities cause dural forces that disrupt normal suture development

112
Q

How is craniosynostosis classified?

A

On sutures closed

  • Sagittal (down midline)
  • Coronal (parallel to face)
  • Lambdoid (horizontal by back of head)
113
Q

Scaphocephaly (form of craniosynostosis)

A
  • Most common form; more common in males

- Premature closure of the SAGITTAL suture

114
Q

Frontal Plagiocephaly (form of craniosynostosis)

A
  • Second most common form; more common in females

- Premature closure of the CORONAL suture on ONE SIDE

115
Q

Occipital Plagiocephaly (form of craniosynostosis)

A
  • More common in immobile children

- Premature closure of LAMBDOID suture on ONE SIDE

116
Q

Trigonocephaly (form of craniosynostosis)

A

Premature closure of metopic suture

117
Q

Turricephaly (form of craniosynostosis)

A

Premature closure of CORONAL suture

118
Q

Crouzon Syndrome

A
  • Craniosynostosis
  • Hypertelorism (wide spaced eyes)
  • Exopthalamus (bulging eyes)
  • Hydrocephalus (too much fluid in ventricles)
  • Hearing loss
119
Q

Apert Syndrome

A
  • Craniosynostosis
  • Hypertelorism (wide spaced eyes)
  • Expothalamus (bulging eyes)
  • Beaked nose (little nose)
  • Cleft palate (sometimes high/vaulted only)
  • Upper airway obstruction
  • Syndactyly (fingers/toes fused together)
  • Mid-face hypoplasia -> HYPOnasal
  • More mental retardation / cognitive issues than Crouzon
120
Q

Pfeiffer Syndrome

A
  • Clover leaf skull
  • Hypertelorism (wide spaced eyes)
  • Exopthalamus (bulging eyes)
  • Broad toes & thumbs
121
Q

Crouzon & Apert are both…

A

Autosomal dominate with an incident of ~15 to 16 per 1,000,000 birthds

122
Q

Airway concerns w/craniosynostosis

A
  • Compromise of nasopharyngeal & oropharyngeal airway

- Serious risk for respiratory distress, obstructive sleep apnea, cor pulmonale and sudden death

123
Q

Treatment for airway concerns w/craniosynostosis

A
  • Endotracheal intubation
  • Tracheotomy
  • Sleep study for obstructive sleep apnea
124
Q

Hearing concerns w/craniosynostosis

A
  • Conductive hearing loss due to Eustachian tube dysfunction from decreased nasopharyngeal space
  • Tympanostomy tubes often necessary
125
Q

SLP Concerns for Apert/Crouzons (5)

A
  • Chronic airway issues
  • Hyponasality
  • Hearing management
  • Phonological development
  • Language development / cognitive delay
126
Q

Velocardiofacial Syndrome (VCFS)

A
  • Most frequently occurring syndrome involving clefts & VP function
  • Prevalence: 1/2,000 - autosomal dominant
  • Deletion on the long arm of chromosome 22
127
Q

Characteristics of Velocardiofacial Syndrome (7)

A
  • 180+ known associated anomalies
  • Congenital heart defects
  • Growth deficiency
  • Hypernasal speech / cleft palate
  • Poor fine motor skills
  • Learning disabilities
  • Psychosis
  • Vascular anomalies common (most commonly head/neck vessels)
128
Q

Unusual facial features in Velocardiofacial Syndrome (7)

A
  • Thin upper lip
  • Narrow palpebral fissures
  • Large nose
  • Flattened nasal bridge
  • Flat malar region
  • Basicranial angulation
  • Causes long face, puffy eyelids, retruded mandible, increased pharyngeal depth
129
Q

Why do you have to be careful in planning for VPI surgery in patients with Velocardiofacial Syndrome?

A

These patients have vascular anomalies common in the head and neck vessels. Often, their carotid artery is more medial, therefore it is more likely to accidentally get cut in surgery

130
Q

Airway concerns in patients with Velocardiofacial Syndrome

A
  • Common for infants
  • Due to generalized hypotonia (esp. pharyngeal), retrognathia, laryngeal webs, and reactive airway disease
  • Endoscopic assessment critical
  • Trach rare
  • Cleft palate & UAO
131
Q

Hearing concerns in VCFS

A

Minor ear anomalies - SNHL in 15% - usually unilateral & mild

132
Q

SLP concerns for VCFS (5)

A
  • Palatal anomalies (75%)
  • Increased pharyngeal depth
  • Severe hypernasality
  • Phonological developmen
  • Apraxia
133
Q

Palatal anomalies in VCFS

A

75% have palatal anomalies

  • 80% occult, 20% overt
  • 44% w/submucous cleft & bifid uvula
134
Q

Pierre Robin Sequence (PRS)

A
  • Triade of palatal cleft, micrognathia, and glossoptosis (backfalling / drooping back of tongue)
  • Incidence: 1 in 8,500
  • Etiology can be multiple (positional, genetic, neurologic, syndromal)
135
Q

Airway Concerns in PRS

A
  • Management w/nasopharyngeal airway initially (~8 weeks)

- Trach may be necessary if other treatments fail

136
Q

PRS & other syndromes

A
  • 32% stickler syndrome
  • 11% VCFS
  • 10% FAS
  • 5% mandibulofacial dysostosis

-17% non-syndromal

137
Q

Hearing concerns in PRS (3)

A
  • Chronic otitis media w/effusion common
  • Palatal abnormality –> Eustachian tube dysfunction
  • Required multiple tympanostomy tubes
138
Q

SLP concerns for PRS (6)

A
  • Effect of trach on laryngeal function
  • Effect of glossopexy (attach the tongue to the lip/elsewhere)
  • Effect of tube feeding on swallowing
  • Articulation
  • Effect of hearing on overall development
  • Socialization & development
139
Q

Treacher-Collins Syndrome (T-C)

A
  • Mandibulofacial dysostosis (development didn’t occur properly)
  • Autosomal dominant
  • 1 in 25,000-50,000 births
  • Bilateral abnormalities of 1st and 2nd pharyngeal arches
140
Q

T-C Characteristics (2)

A
  • Hypoplasia of maxilla, zygoma, and mandible

- Downward slanting eyes w/colobomas (defects in the eyelids) or lower eyelid and absence of eyelashes

141
Q

Airway concerns in T-C (3)

A
  • Respiration easily compromised, especially if choanal atresia/stenosis present
  • Airway management extremely difficult
  • Obstructive sleep apnea may develop - responds to tonsillectomy and/or mandibular advance
142
Q

Hearing concerns in T-C (5) - major issue in this pop!

A
  • Auricles are malformed / absent
  • Varying degrees of ME hypoplasia and ossicular malformation
  • Bilateral CHL - 50 to 70 dB
  • Surgery difficult at best, change for success is poor
  • Hearing aids usually necessary
143
Q

SLP concerns for T-C (3)

A
  • hearing management
  • management of possible clefting / VPI
  • normal cognitive development
144
Q

Hemifacial Microsomia Oculoauriculovertebral Syndrome (HFM)

A
  • Heterogenous spectrum of disorders w/multiple origins
  • Most common congenital anomaly after cleft lip/palate
  • Unilateral craniofacial malformation (mild-severe)
  • 1st & 2nd arches
  • 1 in 5,600 births
  • Sporadic (mostly)
  • Vascular anomaly in fetal life (?)
145
Q

Hemifacial Microsomia Oculoauriculovertebral Syndrome - Characteristics

A
  • Facial asymmetry, unilateral ear deformities, & vertebral malformations
  • Upper eyelid colobomas
  • Auricular malformations, external auditory canal stenosis, ossicular abnormalities
  • Facial weakness in 10 to 20%
  • OMENS classification
146
Q

Hearing concerns (HMF)

A
  • > 50% of patients
  • Usually conduction (ossicular malformation/absense, EAC atresia)
  • SNHL occasionally
147
Q

SLP Concerns in HMF

A
  • Hearing sequelae
  • Articulation from mandibular malocclusion
  • Ankyloglossia
  • VPI
  • Support
148
Q

What should you check for in EVERY craniofacial kid?

A

Ankyloglossia

149
Q

CHARGE Association

A
  • Coloboma (defect of the iris / eyelid)
  • Heart defect (tetraolgy of Fallot, ASD, VSD)
  • Atretic choanae
  • Retarded growth
  • Genitourinary anomalies
  • Ear malformations
  • Must have 4 out of 6
150
Q

Airway concerns in CHARGE

A
  • Choanal Atresia - bilateral more common
  • Bilateral - immediate airway support w/oral airway / intubation
  • If definitive surgery delayed b/c of other anomalies, trach is necessary
151
Q

Hearing Concerns in CHARGE

A
  • External ear anomalies (vary widely)
  • Middle ear anomalies (absence of stapes, abnormal incus, absence of oval window)
  • Inner ear anomalies
  • Deafness is of mixed type
152
Q

Approach to diagnosis

A
  • 3,000+ known syndromes
  • History (medical pedigree, maternal/paternal age, consanguinity (marry a close relative), previous abortions, teratogens)
  • Physical examination (compare other siblings/family member photos, major/minor abnormalities
  • Reference books!
153
Q

What does DNA stand for?

A

Deoxyribonucleicacid

154
Q

What does DNA do?

A

It acts as our bodies instruction manual used in the development and functioning of all known living organisms

155
Q

What is DNA made of?

A

Sugar, phosphate, and a base pair. - Adenine (A) Guanine (G) Thiamine (T) and Cytosine - this is called a nucleotide

156
Q

What does each codon represent?

A

An animo acid

157
Q

What makes a gene and what does it do?

A

Amino acids put together in a specific order makes a gene and codes for a specific protein that has a specific function in the body

158
Q

What is the coding portion of a gene called?

A

Exons

159
Q

What is the noncoding portion of the gene called?

A

Introns - “junk DNA”

160
Q

What are chromosomes?

A

Carry all the DNA in the human body in a condensed structure - each has two arms separated by a centromere. - Essential unit for cellular division and must be replicated, divided, and passed successfully to their caught cells

161
Q

How many chromosomes are there in the human body?

A

46 chromosomes - come in 23 pairs - last pair is sex chromosomes X and Y

162
Q

What causes genetic disorders?

A

Both genetic and environmental factors

163
Q

What are four types of genetic disorders?

A
  • Chromosomal (ex: Down’s)
  • Single gene
  • Mitochondrial
  • Multifactorial
164
Q

What is morphogenesis?

A

An extremely complicated and very poorly understood interaction between genetic and environmental factors that results in the formation of an organism

165
Q

The normal steps of morphogenesis include:

A
  • Cell migration
  • Cell division
  • Interactions between adjacent tissues
  • Adhesive association of like cells
  • Cell death (apoptosis)
  • Hormonal influence
166
Q

Incidence of structural abnormalities

A
  • Major: 2-3% of all births

- Minor: 10% of all births

167
Q

Environmental factors that cause anomalies include:

A

Teratogens, drugs, chemicals, infections, ionizing radiation, maternal factors

168
Q

What are the three basic principles in teratogenesis?

A
  • Critical periods of development
  • Dosage of the drug or chemical
  • Genotype (genetic constitution) of the embryo & mother
169
Q

What are teratogenic agents?

A

Agents that may cause birth defects when present in the fetal environment.
May include: drugs, chemicals, infections, physical and metabolic agents.

170
Q

Variability in range of effects of teratogenic agents is dependent on what?

A
  • Dosage
  • Developmental timing of exposure
  • Differences in susceptibility
  • Interaction among environmental exposures
171
Q

Is there an established dose / response relationship for FAS?

A

NO

172
Q

FAS facial characteristics

A
  • Epicanthal folds
  • Small eye openings
  • flat mid face
  • upturned nose
  • smooth philtrum
  • thin upper lip
  • CNS dysfunction: intellectual, neurologic & behavioral
  • Growth deficiency - pre & postnatal
173
Q

What is mendelian inheritance?

A

Mendelian inheritance is established by a combination of clinical diagnosis with a compatible pedigree pattern

174
Q

What are the four mendelian inheritance patterns?

A
  • Autosomal Recessive
  • Autosomal Dominant
  • X-linked Recessive
  • X-linked Dominant
175
Q

Autosomal Recessive

A

-Both genes are abnormal in an affected individual - both parents have 1 abnormal gene (both parents are carries & phenotypically normal)
-Risk of affected child = 1/4 or 25%
Males & females affected equally

176
Q

Autosomal Recessive ex: Peroxisomal Disorder

A

Caused by the failure to import enzyme into the peroxisome for degradation.
Craniofacial features: flat occiput, large fontanels, high forehead w/flat face, epicentral folds, congenital cataracts, severe brain abnormalities - other features: severe mental retardation, hepatomegaly, growth retardation
-Most die w/in first year of life

177
Q

Autosomal Dominant

A

-One abnormal gene is enough to cause the disease - vertical transmission is seen - males & females affected equally - Affected gene seen in every generation - offspring of an affected parent has 1/2 chance of also being affected

178
Q

Examples of Autosomal Dominant

A

Velocardiofacial syndrome (VCFS), apert, crouzon, achondroplasia

179
Q

X-linked Inheritance

A
  • Females are XX - Males are XY
  • Females are called “carriers” & may be unaffected if they have one abnormal x
  • Males are affected
180
Q

X-linked Recessive Inheritance

A

-If mother is a carrier:
1/2 chance that each son will be affected
1/2 chance that each daughter will be a carrier
-If father is a carrier:
all daughters are obligate carriers
NO males are affected

181
Q

Non-Mendelian Inheritance Patterns: Multifactorial Inheritance

A
  • Common disorders where a # of genetic & environmental factors are involved
  • No single gene
  • Increased risk among closest relatives and decreased rapidly w/distance of relationship
182
Q

Multifactorial Disorders ex: Cleft lip / palate

A
  • Most are isolated; sometimes seen w/a recognizable syndrome
  • Cleft palate can be etiologically distinct from cleft lip & palate
183
Q

Down’s Syndrome Features

A

Craniofacial: up-slanted palpebral tissues & epicanthal folds (eyes) - small, over folding of angulated upper helix, hearing loss, otitis media (ear) - brachycephaly w/flat occiput - hypoplasia, irregular placement, fewer than usual (dentition)
Other: hypotonia, simean crease, wide spaced nipples, wide spaced first toe, mental retardation, endocardial cushion, GI issues, kidney, genitalia, leukemia
*Chromosome 21 has an extra!

184
Q

Non-Mendelian Inheritance: Chromosome Translocations – Robertsonian Translations

A

Balanced translocation: two acrocentric chromosomes attach at the centromere; the total chromosome number changes from 46 to 45

185
Q

Which chromosomes are “acrocentric” chromosomes?

A

13, 14, 15, 21, 22

craniofacial anomalies (4 decks)

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