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NYU Review > Craniofacial syndromes > Flashcards

Craniofacial syndromes Flashcards

Miloro 2015

1
Q

What is the msot common craniofacial anomaly after CLP?

a. Treacher-Collins
b. Crouzon
c. Hemifacial Microsomia
d. Pierre-Robin

A

c. Hemifacial Microsomia - second most common facial anomally
1: 5000 births

M:F = 3:2
R:L= 3:2
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2
Q

Which describes the most likely etiology of HFM?

a. x-linked
b. autosomal recessive
c. FGF (fibroblast growth factor) receptor defect
d. Intrauterine vascular injury

A

d. Intrauterine vascular injury

Stapedial artery disruption in utero due to expanding hematoma affects blood supply to 1st and 2nd branchial arches.

Etiology is likely multifactorial with vascular disruption, teratogens, amniotic bands, hematoma formation, intrauterine compression, chromosomal defects, etc

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3
Q

In addition to the maxillomandibular anomalies, the most consistent finding in HFM is:

a. cataracts
b.tortuous internal carotid artery
c microtia
d single central incisor

A

c. Microtia = small ears

HFM clinically = mandibular hypoplasia which causes maxillary hypoplasia, occlusal cant with facial asymmetry, orbital asymmetry and crossbite/scissor bite.

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4
Q

Classification of HFM?

A 
OMENS 0-3 stage for each
Orbital 
Mandibular
Ear
Nerve
Soft tissue

Kaban
Type 1 - normal shape but small ramus/condyle
Type2A- abnormal shape and small ramus condyle with normal function
Type 2B - abnormal shape and function
Type 3 - complete abscence of ramus condyle

Pruzansku - similar to kaban
Type I
TypeIIA
TypeIIB
Type III
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5
Q

A kaban type IIb HFM has which ramus condyle configuration?

a. unaffected
b. minimally dysmorphic and hypoplastics
c. severely dysmorphic and hypoplastic
d. absent

A

c. severely dysmorphic and hypoplastic

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6
Q

A 7 year old with HFM with no condyle or ramus, severe deficiency of posterior facial height on the affected side and large maxillary occlusal cant. Patient is in orthodontics in preparation for surgery which should include:

a. DO of affected side of mandible
b. bilateral mandibular DO
c. Lefort I to level plane
d. chostochondral grafting

A

d. chostochondral grafting

Kaban type I correction with orthognathic sx

Kaban type II a and b with DO - some with asymmetric orthognathic sx if TMJ functioning well

Kaban type III requires bone grafting, transport DO, or TJR

In occlusal cant cases (type I and IIa) ortho appliances can be used to create open bite so maxilla can grow more on hypoplastic side

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7
Q

When are ears corrected in HFM?

A

5-8 years old

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8
Q

If this patient (picture shows young girl with obvious facial asymmetry in mandible and maxilla) has epibulbar dermoids and cervical spine abnormalities the diagnosis? is?

a. goldenhar syndrome
b. Pfeiffer syndrome
c. Crouzon Syndrome
d. van der Woude syndrome

A

a. Goldenhar Syndrome - variant of HFM

Oculoauricolovertebral dysplasioa (vertebral scoliasis and ear tags are common)

M:F = 3:2

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9
Q

What syndromes are associated with accentuated widow’s peak?

A

Nager syndrome (absent thumbs)

Aarskog syndrome (hypertelorism)

Waardenburg syndrome

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10
Q

Lower lip pits are indicative of ?

A

Van der Woude Syndrome

-Autosomal dominant, CLP common, very rare

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11
Q

What are clinical findings with Hallerman-Streiff Syndrome?

A

short height, hypotrichosis ( hair loss), parrot nose, mandibular hypoplasia

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12
Q

Parry Romberg Syndrome?

A

Progressive hemifacial atrophy

seizures common
affects more commonly females on left side

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13
Q

Oral-Facial-Digital Syndrome

A
  • Cleft tongue
  • webbing noted between cheeks and alveolus
  • polysyndactally
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14
Q

Patients with digeorge syndrome have which of the following?

a. visual loss
b. recurrent infections
c. ear abnormalities
d. lip pits

A

b. recurrent infections
- they have no thymus gland

CATCH syndrome
cardiac defects
abnormal face (telecanthus)
thymic aplasia (immunodeficient)
Cleft palate
Hypoparathyroidism
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15
Q

a 4 year old is seen for a dental excam and PMH reveals VSD. on exam there is bifid uvula and hypernasal, poorly intelligable speech. Vision is normal and rest of exam is WNL. What is dx?

a. van der Woude syndrome
b. Stickler syndrome
c. Nager syndrome
d. Velocardiofacial syndrome

A

d. Velocardiofacial syndrome

also called shprintzen syndrome

submucous CP common with hypernasal speech

Congential heart defects

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16
Q

Moebius syndrome?

A

Oculofacial paralysis with mask like facies (no expression)

Stabismus common

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17
Q

A lateral ceph reveals the absence of an ANS and clinically the nsal tip is ptotic. The patient also has midface hypoplasia what do you dx as?

a. Moebius syndrome
b. Hallerman Streiff syndrome
c. Binder syndrome
d. goldenhar syndrome

A

c. Binder syndrome

  • absent ANS
  • concave face do to midface hypoplasia
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18
Q

Beckwith-Wiedemann Syndrome?

A

Organomegaly of kidney and pancreas

Macroglossia
Capillary nevus in forehead

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19
Q

Which disorder has an absent frontal sinus?

a. Apert
b. carpenter
c. Cystic fibrosis
d. Neurofibromatosis

A

c. Cystic fibrosis

20
Q

Which is associated with holoprosencephaly?

a. orbital hypertelorism
b. premaxillary hyperplaisa
c. mandibular deficiency
d. absence of nasal bones

A

d. absence of nasal bones

Cerebral hemispheres dont divide into intwo two but remain as one in mindline with can cause lack of fusion in midline and development of bones in midline

Cyclops syndrome

21
Q

Which is a feature of Treacher-Collins syndrome?

a. Malar hypoplasia
b. craniosynostosis
c. partial anodontia
d. bifid nose

A

a. Malar hypoplasia - hypoplastic supra orbital rums and zygoma with antimongoloid slants

autosomal dominant with TREACLE gene mutation

1:10,000 prevalence

coloboma = notching of hole in structure of eye (lid, retina, optic disc)

22
Q

In a patient with Treacehr-Collins syndrome, orbital and zygomatic reconstruction should be delayed until age?

a. 1-2 years
b 3-4 years
c. 8-10 years
d. 4-17 years

A

c. 8-10 years

cranioorbital zygomatic growth is complete by age 7

requires ear reconstruction with rib cartilage at age 8

Orbital surgery at age 10

Orthognathic, bilateral DO, and orthodontics also needed

23
Q

In single sutre craniosynositosis in which direction is cranial growth arrested?

A. parallel to affected suture

b. perpendicular to affected suture
c. parallel to open sutures
b. perpendicular to open sutures

A

b. growth is arrest perpendicular to affected suture
- compensatory expansion parallel to suture fusion

Craniosynostosis is premature fusion of cranial sutures

24
Q

CT image of a 3 month old demonstrates (sagitall suture is fused)

a. metopic synostosis
b. coronal synostosis
c. sagittal synostosis
d. lamdoid synostosis

A

c. sagittal synostosis
= most common

Anterior to posterior
Metopic suture is frontal AP suture
Coronal is transverse
Sagittal is AP more posterior
Lamdoid is transverse in posterior
25
Q

Premature fusion of metopic suture causes

a. brachycephaly
b. scaphocephaly
c. trigonocephaly
d. posterior plagiocephaly

A

c. trigonocephaly - anterior of head comes to a point

- triangular skull

26
Q

In diagnosis a child with posterior cranial vault asymmetry characterized by unilateral flattening, benign positional skull molding must be differentiated from which synostosis?

a. Lambdoid
b. metopic
c. sagittal
d. bicoronal

A

a. Lambdoid synostosis = posterior plagiocephaly or flattening of the head in the posterior leading to asymmetric skull

unilateral coronal leads to anterior plagiocephaly.

Positional skull molding is from baby laying on one side to long and that side flattens

27
Q

Scaphocephaly is commontly associated with which synostosis?

A

Sagittal - elongated head in AP direction

Bicronoal synostosis leads to brachycephaly or widening of skull.

28
Q

Most forms of craniofacial dysostosis syndromes (crouzon, Aperts, Saethre-chotzen) are:

a. x linked recessive
b x linked dominant
c autosomal dominant
d autosomal recessive

A

c autosomal dominant

but they can be sporadic as well

FGFR (fibroblast growth factor) genes implicated

Patient usually have increased ICP, hydrocephalus, and MR

29
Q

What is most appropriate treatment for this 6 month old ( CT shows left unilateral coronal synostosis)

a. observation
b. reshaping posterior 2/3
c. reshaping anterior cranial vault and fronto orbital advancement
d. nonsurgical treatment with cranial orthotic band

A

c. reshaping anterior cranial vault and fronto orbital advancement

tx - infancy use helmets

sx- strip cranietomy to open sutures or barrelstave osteotomies to remodel skull or Lefort III with DO

30
Q

In an infant undergoing craniofacial surgery with a transcranial approach, which is an early indicator of cerebral air embolus?

a. decreased ETCO2
b. increased ETCO2
c. Oxygen desaturation
d. Hypertension

A

a. decreased ETCO2

this is followed by hypotensive crisis

air enters diploic channels in cut bone to venous circulation and ends up in right side of heart. At this point it can enter pulmonary circulation causing pulmonary HTN, or it can cross to left side of heart ( if foramen ovale is patent) and cause stroke.

31
Q

Durign cranifacial surgery an air embolism is suspencted by the surgeon. which of the following is most helpful in controling entry of air into venous circulation?

a. raising head above heart
b. limiting irrigation in surgical field
c. applying bone wax to cute bone edges
d. administration of nitrous oxide-oxygen mixture

A

c. applying bone wax to cute bone edges

32
Q

Are most cases of synostosis syndromic?

A

Most are nonsyndromic

33
Q

Which cranial vault suture is most commonly associated with crouzon syndrome?

a. lambdoid
b. sagittal
c. coronal
d. metopic

A

c. coronal

Autosomal dominant
Anterior brachicephaly (coronal synostosis)

more common and less severe than aperts

34
Q

What are the 4 findings of crouzon syndrome

A
  1. exorbitism/proptosis
  2. retromaxilism (maxilla back and down)
  3. inframaxillism
  4. paradoxical retrogenia
35
Q

the facial bipartition osteotomy differs from the monoblock osteotomy in that it:
a, untilizes bifrontal craniotomy for intracranial approach
b. allos for frontoorbital contouring at sx
c allows for correction of orbital hypertelorism
d. is more commonly used in reconstruction for crouzons

A

c allows for correction of orbital hypertelorism

36
Q

when should primary cranioorbital surgery be performed on a newborn with crouzons?

a. 4-12 months
b. 13-24 months
c. 3-5 years
d. 7-10 years

A

a. 4-12 months

37
Q

Which syndrome has bilateral complex syndactaly of fingers and toes?

a. apert
b. crouzon
c. carpenter
d. Saethre chotzen

A

a. apert

Fusion of bicoronal sutures and midline sagittal suture
antimongoloid slant
shortened life span
like crouzons but worse

38
Q

Pfeiffer Syndrome?

A

Autosomal dominant

Less severe than aperts but similar

39
Q

Saethre-Chotzen syndrome?

A

Autosomal dominant

Asymetric craniosynostosis

frontal bossing
low set ears
peg laterals
syndactaly

40
Q

Carpenter Syndrome?

A

Autosomal recessive

variable craniosynostosis

41
Q

what is Pierre Robin sequence

A

Triad of micrognathia, glossoptosis, and u shaped cleft palate

65% associated with other syndromes with heart defect, ocular issues, neuro issues

hypoplastic mandible prevents tongue decent between palatal shelves creating cleft

Airway issue at birth = exit procedure or stat trach

42
Q

a child born with isolated CP and severe myopia most likely has?

a. Pierre robin
b stickler syndrome
c. van der Woude syndrome
d. velocardiofacial syndrome

A

b stickler syndrome

autosomal dominant

collagenopathy

MYOPIA + Pierre ROBIN sequence

43
Q

Branchial cleft mnemonic

A 
1 Man
Fucked 2 Strippers
In 3 Great Styles
but don't tell...
4 Always Remember to Say that what happens in Vagus
Recurs in Vagus
44
Q

1st arch

A 
1 Man = 1st pharyngeal arch, M 
Mandible branch of CN V3
Muscle of Mastication
Meckel's Cartilage
Maxillary Artery
45
Q

2nd arch

A 
Fucked 2 Strippers =2nd arch
Facial nerve (CNVII)
S= Stapes Styloid, Smiling (facial) muscles, Stapedial Artery
46
Q

3rd Arch

A

In 3 Great Style = 3rd arch
I = internal carotid artery
Glossopharyngeal Nerve CN IX
Styles = Stylopharyngeus muscle

47
Q

4th arch

A

4 = 4th pharyngeal arch
4 Always Remember to Say That what happens in Vagus, Recurs in Vagus

ARS = Aortic and right Subclavian Arteries

That = Thyroid cartilage

Vagus nerve (CNX)
Recurrent Laryngeal Nerve

For anything else = pharyngeal arch 6

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