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xD2 Genetics Final > GenF Craniofacial Anomalies > Flashcards

GenF Craniofacial Anomalies Flashcards

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1
Q

What is a surgical specialty which deals with restoring, to the extent possible, the normal anatomy of the craniofacial unit?

A

Craniofacial surgery

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2
Q

Major congenital defects occur in what percent of general population at birth?

A

1-3%, by follow up = 5%

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3
Q

According to the US Surgeon General, what is the standard of care for all children with special health care needs?

A

Coordinated interdisciplinary care which includes social, emotional, and cognitive support

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4
Q

What do “special needs” entail?

A

Any needs above those of a an average healthy child

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5
Q

What percent of major birth defects cause infant mortality?

A

20%

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6
Q

How many babies born/year in VA with a congenital anomaly, and of those, how many have a craniofacial anomaly?

A

5000

300

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7
Q

What is required for the best possible care for children with congenital craniofacial anomalies?

A

A coordinated, interdisciplinary team approach

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8
Q

What must be communicated to the families of children with a craniofacial anomaly?

A

That the child will require a continuum of care

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9
Q

Which 13 individuals on the VCU craniofacial team?

A
  1. Pediatric Plastic surgeon
  2. Pediatric Neurosurgeon
  3. ENT
  4. OMFS
  5. Speech therapy
  6. Audiology
  7. Psychologist
  8. Pediatric Dentist
  9. Orthodontist
  10. Clinic Coordinator
  11. Geneticist
  12. Pediatric opthamologist
  13. Clinical Anthropologist
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10
Q

What is the most common craniofacial anomaly?

A

Orofacial clefts

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11
Q

Virtually all cases of cleft lip – cleft palate are attributable to the failure of what?

A

Medial nasal processes to either contact or maintain contact with the lateral nasal and maxillary processes

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12
Q

What is the definition of the primary palate?

A

Anterior to incisive foramen, contains 4 anterior teeth

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13
Q

What 2 things pass through the incisive foramen?

A
  1. Nasopalatine nerve

2. Sphenopalatine artery

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14
Q

At what week in gestation does fusion of the palatal shelves begin? That fusion continues until which week?

A

Starts week 8, continues to week 12

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15
Q

Is a temporary cleft present in normal development?

A

Yes

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16
Q

What can provide a barrier to fusion of the palatal shelves, and what is the example syndrome Dr. Rhodes gave?

A

Tongue, micrognathia in Pierre Robin Sequence

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17
Q

Children with cleft palate are unable to close their nasopharynx from the oropharynx to develop suction due to the lack of insertion of what 2 muscles critical for normal velar and eustacian tube function?

A
  1. Tensor Veli palatine

2. Levator Veli Palatine

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18
Q

What term generally means a cleft of the lip, a cleft nasal deformity, a cleft of the primary palate?

A

Cleft lip

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19
Q

What term generally refers to a cleft of the lip, cleft nasal deformity, a cleft of the primary AND second palates?

A

Cleft lip and palate

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20
Q

What is the term referring to a cleft of the secondary palate only?

A

Isolated cleft lip and palate

21
Q

What is the term referring to the predictable nasal deformity associated with unilateral or bilateral cleft lips?

A

Cleft nasal deformity

22
Q

What will be seen and felt with a submucous cleft palate?

A

A thin light strip down midline (zona pellucid) has bifid uvula and palpable posterior nasal spine

23
Q

Is there a variation in races with isolated cleft palate?

A

No

24
Q

What ethnicities have the highest incidence of cleft lip and palate?

A

Asians and American Indians

25
Q

What is believed to be the cause of variation of cleft lip and palate among different ethnicities?

A

Timing and coordination of development of medial nasal process

26
Q

Do most children with clefts have associated syndromes or do they have no other malformations?

A

Most have no other malformations

27
Q

Which cleft has the highest incidence of being associated with other malformations?

A

Isolated cleft palates

28
Q

Both syndromic and non-syndromic clefting are what disease entities: heterogenous or homogenous?

A

Heterogenous. Think interplay of genes and environment as well

29
Q

What is the percent chance that a family with a non-syndromic cleft-lip palate child, will have a 2nd child with a similar defect?

A

3-4%

30
Q

If 2 children in a family have cleft lip and palate, what percent chance is there that the 3rd child will have it?

A

9%

31
Q

What are some key issues prenatally with diagnosis of clefting?

A

Support, education, feeding techniques

32
Q

Babies with cleft palates cannot do what?

A

Generate suction

33
Q

Can babies with cleft palates swallow normally?

A

Yes

34
Q

Can a baby with isolated cleft palate generate suction and do they require special feeding techniques?

A

Yes, no special techniques required

35
Q

What is the concern during perinatal period with clefting?

A

Getting child to eat

36
Q

What is done for child with cleft at 6 weeks?

A
  1. Evaluate growth
  2. Review care plan
  3. Provide support
  4. Discuss lip repair details
37
Q

At what age is primary lip and nose repair done?

A

3 months (anesthesia safer, surgery technically easier, same day surgery)

38
Q

What is a key element of the unilateral cleft lip repair?

A

Repair the orbicularis oris muscle

39
Q

When is primary palate repair done?

A

10-12 months. Too early, induce midface hypoplasia, too late, incure speech problems

40
Q

What is the surgical technique for the palatoplasty at 10-12 months?

A

Furlow (double opposing Z design)

41
Q

What is the priority during the toddler years for cleft treatment?

A

Speech

42
Q

What are 2 etiologies of speech problems in patient with cleft?

A
  1. Structural (hard time forming pressure consonants)

2. Behavioral (learned compensation, e.g. nasal grimace)

43
Q

Velopharyngeal insufficiency (VPI) produces what characteristic speech type in a patient with clefting?

A

Hypernasality

44
Q

At what age is Velopharyngeal insufficiency surgically repaired?

A

4 years old

45
Q

What is recommended before school age?

A

Touch up surgery as lip and nose deformities recur with facial growth to minimize teasing when start school

46
Q

What surgery is considered into the teenage years for patient a with a cleft?

A

Orthognathic surgery (Lefort 1 to move mandibile distal to C1 occlusion)

47
Q

What is the character of the cleft palate in Peirre Robin Sequence?

A

U-shaped and breathing problems

48
Q

What is first treatment for breathing problems in Pierre Robin sequence?

A

Lay them in prone position (on their tummy)

49
Q

What are 2 methods to bring tongue forward to aide airway in Pierre Robin Sequence?

A
  1. Tongue-lip adhesion

2. Distraction osteogenesis to move mandible anterior and pull tongue forward

xD2 Genetics Final (7 decks)

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