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Cleft Palate > Chapter Three > Flashcards

Chapter Three Flashcards

1
Q

The Genetics Evaluation and Common Craniofacial Syndromes

A

…

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2
Q

Craniofacial Syndromes

_____are associated with clefting.

Children with clefts often have other _______due to a syndrome (especially with CPO or VPI).

They often involve _________structures and ear.

Many involve malformation of _______.

_____of patients with craniofacial syndromes have DD, LD, neurologic or cognitive disorders.

A

Hundreds

malformations

oral, pharyngeal, laryngeal

cranium/brain

Half

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3
Q

Craniofacial Anomalies

Effect on communication:

Articulation:

Language:

Resonance:

A

Articulation—malocclusion, restricted oral cavity, lingual anomalies, VPD, hearing loss, learning problems, and mental disability

Language—hearing loss, learning problems, and mental disability

Resonance—VPD, abnormalities in the shape and size of cavities of the vocal tract

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4
Q

Genetics Evaluation

A

Prenatal history

Medical history

Developmental history

Feeding history

Family history

Physical examination

Laboratory and imaging studies

Genetic counseling

Psychosocial counseling

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5
Q

Syndrome Identification

Importance for patient care:
1.
2.
3.
4.
A

Allows providers and caregivers to plan appropriate treatment and have realistic goals

Can anticipate problems through natural history of syndrome

Can determine a recurrence risk

Is important for genetic counseling for family planning

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6
Q

Prenatal History
Prenatal history is important to know.

Exposure to _____can increase risk for craniofacial anomalies.

A

teratogens

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7
Q

Medical History

Complications _________ must be noted.

Medical history is important for _______and for providing proper ______for older children.

A

before, during, and after birth

diagnosing a syndrome

treatment

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8
Q

Developmental History

Note __________ in school.

A

milestones, therapies, and progression

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9
Q

Feeding History

Problems are common in _____who have a cleft palate

Feeding history is important for management of feeding in ______.

A

infants

older children

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10
Q

Family History

Pedigree—

Create a pedigree of family out to ____generations.

A

a pictorial representation of family members and their line of descent

four

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11
Q

Physical Examination

Check for _______

Include a ______examination (nonhereditary features).

Examine early and present _____ of the client and family members for similarities.

A

microcephaly

dysmorphology

photographs

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12
Q

Laboratory studies:
Help make a _____.
Confirm a ______.

Imaging studies:
Identify __________ and _______

A

diagnosis
clinical suspicion

bone maturation and structural anomalies.

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13
Q

Genetics Scheduling

Educate the family about _____and ______.

Provide ____________, if necessary.

Discuss _____risks.

A

hereditary factors and development

referrals to school and community services

recurrence

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14
Q

Psychosocial Effects

Patients with craniofacial syndromes often have three fundamental problems:
1.
2.
3.

A
  1. They look abnormal.
  2. They sound abnormal.
  3. They often have learning problems.
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15
Q

Effects on the Child

A

Poor self-esteem

Anxiety

Behavioral problems

Social introversion

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16
Q

Effect on Family Members

A

Strain emotionally and financially

Often causes problems for siblings and marital problems

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17
Q

Dysmorphology

Malformation:

Deformation:

A

due to a genetic etiology (cleft palate)

Deformation—due to abnormal mechanical forces on an otherwise normal structure (burned in a fire)

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18
Q

Dysmorphology

Amnion:

Amniotic bands:

A

Amnion—the membrane surrounding the embryo and fetus

Amniotic bands—strands of tissue floating in the amniotic cavity

Can attach to limbs, the head, or other body parts and act as tourniquets

Causes deformations

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19
Q

Syndrome—

Association—

Sequence—

A

Syndrome—pattern of multiple anomalies that are pathogenically related

Association—a nonrandom occurrence of a pattern of multiple anomalies in two or more individuals that is not a known syndrome or sequence

Sequence—a series of anomalies that result from a single initiating event, anomaly, or mechanical factor

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20
Q

Pierre Robin Sequence

In utero:

A

Mandible is small or does not grow down and forward

Tongue remains in superior/posterior position

Palatal shelves and velum cannot close because the tongue is in the way

This causes a bell-shaped cleft palate and glossoptosis

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21
Q 
Pierre Robin Sequence
Triad of characteristics:
1.
2.
3.

Secondary _________ at birth

A

Micrognathia—small mandible

Glossoptosis—base of tongue retruded in pharynx

Wide bell-shaped cleft palate

airway obstruction

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22
Q

Pierre Robin Sequence

Micrognathia
Can be genetic as part of a syndrome (malformation)

Stickler’s syndrome, velocardiofacial syndrome, etc.

Can be due to __________in utero (deformation)
Multiple babies
Polyhydramnious

A

external mechanical interference

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23
Q

Pierre Robin Sequence

Early Problems—______

Tongue is _______

Inspiration causes _______

Negative pressure can cause pharyngeal collapse during sleep, resulting in _______

A

Airway

in the pharyngeal space.

negative pressure.

sleep apnea

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24
Q

Pierre Robin Sequence***

Treatment—Airway

A

Laying child in prone position

Glossopexy—suturing tongue to bottom lip

Tracheostomy

Distraction osteogenesis: fracture the skull and pull the mandible forward

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25
Q

Pierre Robin Sequence

Additional Problems***

A

Feeding

Hearing Loss

Risk for speech problems

26
Q

Genetics of Nonsyndromic Cleft Lip w/wo Cleft Palate

Recurrence risk for parents and child is ______

Racial differences (highest to lowest):

______ cleft lip is more common than _____

A

3% to 5%.

Indigenous American Indians
Asians
Caucasians
African descent

Left- sided; right sided

27
Q

Genetics of Syndromic Cleft Lip w/wo Cleft Palate

Over ____ syndromes are associated with facial clefts.

Cleft palate (without cleft lip) is much more likely to be associated with _________

A

400

a syndrome or other congenital anomalies.

28
Q

Genetics of Cleft Palate Only

About ____of children with cleft palate only have a syndrome or other associated anomalies.

A

half

29
Q

Beckwith-Wiedemann Syndrome

A

Hypertrophic (large) features

Macroglossia—large tongue

Treatment with a partial glossectomy

IMAGE

30
Q

Beckwith-Wiedemann Syndrome

Organ______

At risk for ______

A

macromegaly

Wilms tumors (kidney cancer)

31
Q

CHARGE Syndrome**

A

Coloboma

Heart defect

Atresia (choanal)

Retarded growth/development

Genitourinary anomalies

Ear anomalies/deafness

32
Q

Fetal Alcohol Syndrome

Common cause of…

Distinct…

A

Pierre Robin Sequence and cleft palate

facial features and other birth defects

33
Q

Hemifacial Microsomia

Also called:

A

Facioauriculovertebral (FAV) syndrome

Goldenhar syndrome

Oculoauriculovertebral Dysplasia

34
Q

Hemifacial Microsomia

A

Unilateral lack of development (hypoplasia) malar, maxillary, mandibular processes

Cleft-like extension of corner of mouth

May have unilateral velar paresis or paralysis

35
Q

Hemifacial Microsomia

Microtia/anotia:

A

Microtia/anotia—small or absent external ear or middle ear anomalies

Preauricular tags or pits

Hearing loss

36
Q

Kabuki

A

Wide palpebral fissures with eversion (turning out) of the lateral portion of the lower lid

Ear anomalies

Broad nasal tip

Cleft palate or submucous cleft

37
Q

Neurofibromatosis I (NF1)

A

Café au lait macules—pigmented spots

Neurofibromas

Velopharyngeal dysfunction

38
Q

Opitz Syndrome

A

Laryngeal cleft leads to swallowing issues, aspiration pneumonia, and speech problems.

Opitz syndrome may require an extended period of time with a tracheostomy.

39
Q

Orofacial Digital (OFD) Syndrome

A

Hypertelorism

Dry skin

Mental disability

X-linked dominant

Lethal in males

40
Q

Orofacial Digital (OFD) Syndrome

A

Lobulated tongue

Notching in alveolar ridge

Multiple hyperplastic frenula

High or cleft palate

41
Q

Stickler Syndrome

Pierre Robin Sequence plus:

A

Skeletal abnormalities

Juvenile arthritis and joint disorders

Myopia and eye abnormalities
Sensorineural hearing loss

Wide, flat face

Autosomal dominant condition

42
Q

Treacher Collins Syndrome***

A

Downward slant of eyes

Hypoplastic malar and
zygomatic bones

Coloboma of lower eye lids

Microtia or small ears

43
Q

Treacher Collins Syndrome***

A

Macrostomia or microstomia (mouth)

Middle ear anomalies, conductive hearing loss

Micrognathia

May have Pierre Robin Sequence

44
Q

Trisomy 13

Results in…

Many have…

A

severe birth defects affecting the brain and heart

clefts in the midline of the lip and face

45
Q

Van der Woude Syndrome***

A

Cleft lip/palate with bilateral lip pits on lower lip

Autosomal dominant—50% risk of recurrence

46
Q 
Velocardiofacial Syndrome (VCFS)
One of the most common conditions assoc with cleft palate

Also known as:

A

Shprintzen syndrome

DiGeorge syndrome

22q11.2 syndrome

47
Q 
Velocardiofacial Syndrome (VCFS)
Basic Phenotypic Features

Velo:

Cardio:

Facial:

Other:

A

Velo: velopharyngeal dysfunction

Cardio: minor cardiac, vascular anomalies

Facial: dysmorphic facial features

Other: learning disabilities, oral motor dysfunction, psychological concerns, other medical problems

48
Q 
Velocardiofacial Syndrome (VCFS)
Variable Expressivity

Can exhibit many of the typical characteristics or only a few

Most commonly characterized by ______

A

abnormal speech

49
Q

Velocardiofacial Syndrome (VCFS)

Velopharyngeal Dysfunction

A

Cleft of the soft palate

Submucous cleft

Occult submucous cleft

Pharyngeal hypotonia

50
Q

Velocardiofacial Syndrome (VCFS)

Cardiac Anomalies:

A

Ventricular septal defect (VSD)

Atrial septal defect (ASD)

Patent ductus arteriosus (PDA)

Pulmonary stenosis

51
Q 
Velocardiofacial Syndrome (VCFS)
Vascular Anomalies
A

Right-sided aortic arch

Tortuosity of retinal blood vessels

Medially displaced internal carotid arteries

52
Q 
Velocardiofacial Syndrome (VCFS)
Facial features:
A

Long, narrow face with vertical maxillary excess

Narrow palpebral fissures

Flattened malar eminences

Broad nasal bridge with
narrow alar base and bulbous nasal tip

53
Q 
Velocardiofacial Syndrome (VCFS)
Facial Features:
A

Thin upper lip

Micrognathia or retruded mandible, often with Class II malocclusion

Minor auricular anomalies

Abundant scalp hair

Microcephaly

54
Q 
Velocardiofacial Syndrome (VCFS)
Common Physical Findings:
A

Small stature

Usually below the 10th percentile in weight and height

Long, slender fingers

Hyperextensibility of the joints

55
Q 
Velocardiofacial Syndrome (VCFS)
Common Medical Problems:
A

Pierre Robin Sequence (cleft palate, micrognathia, glossoptosis with airway obstruction)

Laryngeal web

Umbilical or inguinal hernias

56
Q

Velocardiofacial Syndrome (VCFS)

Common Functional Problems:

A

Early feeding problems

Gross and fine motor dysfunction

Conductive or sensorineural hearing loss

Outgoing personality with social disinhibition

Risk of onset of psychosis in adolescence

57
Q 
Velocardiofacial Syndrome (VCFS)
Learning and Cognitive Findings:
A

Learning disabilities

Concrete thinking

Mild to moderate mental disability

58
Q

Velocardiofacial Syndrome (VCFS)

Communication Problems:

A

Hypernasality due to velopharyngeal dysfunction (VPD)

Misarticulations, often due to verbal apraxia

Hearing loss

Language impairment

High-pitched voice

59
Q

Velocardiofacial Syndrome (VCFS)

Etiology

A

Autosomal dominant

Deletion on chromosome 22q11.2

60
Q

Velocardiofacial Syndrome (VCFS)

Diagnosis

A

FISH (fluorescence in situ hybridization) probe

Looks for the specific deletion in 22q11.2 area of the chromosome

61
Q

Wolf-Hirschhorn Syndrome

Distinct facial features include:

A

Hypertelorism: wide-spaced eyes

Prominent nasal bridge

Cleft lip and/or palate

Cleft Palate (19 decks)

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