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Head and Neck / CF > Atypical clefts, craniosynostosis, craniofacial dysostoses > Flashcards

Atypical clefts, craniosynostosis, craniofacial dysostoses Flashcards

1
Q

What is the american cleft palate association classification of craniofacial congenital anomalies?

A
  • Clefts, encephaloceles, dysostoses
  • Atrophy/Hypoplasia
  • Neoplasm/Hyperplasia
  • Craniosynostosis
  • Unclassified
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2
Q

Describe the theories of pathogenesis of craniofacial clefts

A
  • Failure of Fusion (Dursy, His)
    • failure of fusion of embryonic facial processes along planes of fusion
  • Failure of Penetration (Stark, Johnson)
    • normally NCC derived mesoderm penetrates the laminar disc of ectoderm; struture formation and maintence of ectoderms requires penetration
    • therefore incomplete (partial cleft) or complete failure to penetrate can result in facial cleft
  • Ischemic Theory (McKenzie, Craig)
    • intrauterine vascular event and subsequent breakdown of tissue
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3
Q

what are treatment goals or considerations for atypical facial cleft?

A
  • Identify areas that require urgent or early intervention
    • airway compromise, swallowing compromise, increased ICP, corneal exposure
    • Functional correction of macrostomia
    • Functional eyelid reconstruction to permit lid closure, prevent corneal exposure
    • Separate confluent cavities (orbital, nasomaxillary, oral)
    • Cosmetic: correct aesthetic deformities
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4
Q

What are “cleftogens”?

A
  • factors that contribute to or are associated w/ the occurance of facial clefts:
  • radiation
  • maternal disorders: DM, PKU
  • Maternal infections: toxoplasmosis, CMV, rubella
  • chemicals: Vit A admin; other vitamin deficiency
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5
Q

what are clinical features of aytpical cleft 0/14?

A

bifid nose, median cleft lip, cyclopia, hypotelorism (vs hypertelorism)

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6
Q

what are atypical clefts potentially associated w/ hypertelorism?

A
  • atypical clefts 14, 13, 12
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7
Q

what atypical clefts are potentially associated w/ coloboma of eye?

A
  • lower coloboma: 3,4,5,6
  • upper coloboma: 11, 10, 9
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8
Q

what is the most common atypical cleft and its features

A
  • most common atypical cleft is #7
  • also associated w/ treacher collins syndrome (in isolation or w/ 6, and 8)
  • associated w/ macrostomia, ear malformations, mandible & zygoma aplasia/hypoplasia (and therefore corresponding abnormalities to orbit)
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9
Q

what is frontonasal dysplasia? what is the suspected etiology? is it characterized by excess tissue or deficient tissue?

A

· Aka median cleft face syndrome, Tessier number 0-14 cleft

· Excess tissue – frontonasal dysplasia

· Lack of tissue – holoprosencephaly (failure of division of forebrain division into lobes)

· Etiology – embryologic arrest of development in the nasal capsule and a lack of fusion of the midface region

· Inheritance: sporadic

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10
Q

what is craniofacial microsomia? (define)

A

constellation of asymmetric craniofacial anomalies of derivatives of the 1st and 2nd branchial arches

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11
Q

what is a suspected etiology of craniofacial microsomia

A
  • sporadic with no genetic transmission
  • suspected 2’ to hematoma of the embryologic (and transient) stapedial artery; vs. other (teratogens)
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12
Q

how would you define the clinical features of craniofacial microsomia

A

Describe (& classify) features using the OMENS system (mulliken) plus acknowledge other associations

Orbit

  • O1 – abnormal size
  • O2 – abnormal position
  • O3 – abnormal size and position

Other skeletal

  • Mx reduced 3 dimensions
  • Zygoma reduced all 3 planes; short/absent arch
  • Temporal, frontal, cervical vertebrae

Mandible (Pruzansky)

  • M1 – hypoplastic mandible condyle, ramus
  • M2 – Short, abnormally shaped ramus
    • M2a – condyle seated in glenoid fossa
    • M2b – condyle (TMJ) medially displaced
  • M3 – absent ramus, condyle, glenoid fossa (TMJ)

Other mandible

  • Occlusal cant, anterior open bite
  • Chin deviation to ipsilateral side
  • Reduced alveolar height
  • CL/P, CP (15%), VPI

Ear (Meurman)

  • E1 – hypoplastic and cupping; all components present
  • E2 – vertical remnant cartilage/skin; absent EAC
  • E3 – malpositioned lobule and auricle

Nerve

  • N1 – Upper facial nerve involvement
  • N2 – Lower facial nerve involvement
  • N3 – all branches affected
  • Plus other extra-skeletal features:*
  • Cardiac, CNS, pulmonary, GI, renal, MR

Soft tissue

  • S1 – mild/minimal soft tissue deformity
  • S2 – moderate soft tissue deformity
  • S3 – severe soft tissue deformity

Other soft tissue

  • Hypoplastic muscle of mastication
  • Skin tag
  • Soft tissue features of clefts (ex macrostomia)
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13
Q

what are the general management (treatment) considerations for craniofacial microsomia?

A
  • Birth: airway, feeding, consultations, workup for associated anomalies (in particular heart, lung, GI/GU, cervico-vertebral)
  • 1st year: pre-auricular skin tags, macrostomia, hearing assessment/aids
  • early childhood: mandibular distraction (zygoma) (if not required urgently for airway)
  • mid-childhood: costochondral graft to mandible, orthodontics
  • late childhood: ear reconstruction
  • adolescence: soft tissue augmentation/reconstruction; orthognathic surgery
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14
Q

what are specific treatment goals of craniofacial microsomia?

A

· Orbit – supraorbital rim/lateral orbital wall advancement; increased orbital volume

· Mandible – I/IIa à orthodontics/orthognathic, IIB/III à costochondral grafts (III often need double jaw + genio)

· Maxilla – Can show “catch up” growth after mandible is lengthened; may require LeFort I

· Zygoma – bone graft vs allograft PRN

· Ear – soft tissue à fat graft/fillers à free flap (see microtia seminar), +/- hearing aids

· Soft Tissues – fat grafting, fillers, free flap

· Oropharyngeal – CP repair, pharyngoplasty/macrostomia repair

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15
Q

what is treacher collins syndrome (define)

A
  • congenital craniofacial malformation that symmetrically involves the soft tissues and skeleton of the mid and lower face
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16
Q

what are ways to distinguish treacher collins from unilateral or bilateral craniofacial microsomia?

A
  • TCS is SYMMETRICALLY bilateral; whereas CFM is bilateral only 10-30% and even then it is asymmetrically bilateral
  • TCS has a Familial inheritance pattern (AD w/ variable penetrance) vs. sporadic in CFM
  • gene testing (TCOF1 gene on chromosome 5)
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17
Q

what are the characteristic features of treacher collins syndrome?

A
  • Zygoma; absent/hypoplastic
  • Mx: hypoplastic in 3 dimensions, diminished posteiror vertical height, convex face
  • Md: hypoplastic in vertical and sagittal dimensions; malocclusion; occlusal cant; anterior open bite; macrostomia, retruded chin with increased vertical height
  • orbit: coloboma (jxn mid/lat 1/3), medial 1/3 absent eyelids, downsloping palpebral fissure (antimongoloid slant), lower lid vertical deficiency
  • Ear: microtia, Low lying hairline @ ears
  • bilaterally symmetrical - defining feature
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18
Q

what is the inheritance pattern of TCS?

A
  • 60% sporadic
  • AD w/ variable penetrance
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19
Q

what are the definging features of orbital involvement in TCS

A
  • coloboma (jxn mid and lateral 1/3)
  • vertical lower lid deficiency
  • medial 1/3 absent eyelashes
  • downloping palpebral fissure (antimongoloid slant)
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20
Q

describe goals of treatment in TCS:

A
  • to harmonize facial appearance
  • To close/correct coloboma and vertical lower lid deficiency
  • To reconstruct malar/zygomatic promence and arch
  • To restore maxillo-mandibular relationship and occlusion
  • To reconstruct auricle and macrostomia
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21
Q

Describe how you would approach the treatment of TCS

A
  • Emergencies & early intervensions (newborn)
    • airway considerations (usual protocol for PRS including consideration of early DO)
    • feeding considerations (NG/g-tube; remember choanal atresia)
    • eyelid intervention for corneal exposure (temporary vs. permanent)
    • consultations
    • hearing assessments
  • “O-Z-M-C” intervensions (~ 2-4yrs):
    • palpebral & coloboma repair +/- lateral canthopexy
    • early skeletal interventions: NVBG, VBG, alloplastic, DO
    • macrostomia repair
  • microtia recon (consider the skin flap required and the low hair line, esp prior to major mandibular procedures to preserve skin/STA)
  • Mandible interventions:
    • Pruzansky I/IIA: orthognathic later in life / Pruzansky IIA/IIB – DO / Pruzansky III – costochrondral rib graft
  • Many patients require orthognathic double jaw surgery later in life (Lefort I + BSSO)

o Other – Ear reconstruction, facial profile (rhino, genio, malar/cheek augmentation)

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22
Q

what is a sequence, compared to a syndrome?

A
  • a sequence is a series of events that occur secondary to a specific inciting event
  • a syndrome is a collection of findings across different systems that occur in response to a genetic abnormality
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23
Q

how do you define pierre robin sequence?

A
  1. retrognathia
  2. glossopthosis
  3. airway compromise
  4. with 50% association with U-shaped cleft palate
  5. in response to the inciting event of mandibular hypoplasia, then the tongue does not descend, may then cause the lateral palatine processes to fail to fuse (CP) and all contributing to airway obstruction
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24
Q

what syndromes are associated w/ pierre robin sequence?

A
  • 20% PRS is syndromic
  • Stickler is most common
    • others include: Mobeius, Beckwith Weideman, TCS, Nager, q22
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25
Q

what is the natural history of PRS?

A
  • for non-syndromic patients, the retrognathia/microgenia will often catch up, and at that point any concern regarding airway obstruction usually resolves
  • left still with permanent microgenia/retrognathia though which may rquire orthognatic internveion in future
  • for syndromic patients with other intrinsic characteristics that predispose to airway obstruction or restricted growth, this natural progression is not observed
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26
Q

what consulations would you want to get for PRS?

A
  • genetics, social work, nutrition, PRS, ENT, ophthomology, audiology, SLP
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27
Q

what are some considerations for treatment / extent of treatment / indication for intervention?

A
  • duration and severity of desaturation
  • response to conservative measures
  • duration of high end tidal CO2
  • FTT despite o2 supplementation and nutrition intervention
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28
Q

describe interventions (in order) utilized for patients wiht airway obstruction and PRS

A
  • monitoring +/- supplementation oxygen
  • prone position (lateral)
  • nasopharyngeal tube
  • feeding interventions
  • tongue-lip adhesion
  • tracheostomy
  • distraction osteogeneis
  • (last 2 may be interchangable depending on context, urgency etc)
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29
Q

besides airway, what is the other urgent consideration for patients w/ PRS. How is this typically managed?

A
  • other consideration is feeding /FTT
  • daily weights, nutrition consultation
  • haberman nipple
  • anti-reflux meds
  • consideration of NG, g-tube
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30
Q

after the initial period in hospital managing airway and feeding concerns, what are the longer term concerns for patient w PRS?

A
  1. when to repair CP - usually delayed @ around 18-24 mos
  2. management of micrognathia in long term usually at skeletal maturity with chin augmentation/genioplasty/orthognathic surgery w/ BSSO vs. double-jaw
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31
Q

what are complications of untreated airway obstruction in infacnts w PRS?

A

if untreated: OSA, cor pulmonale, hypoxia, FTT – mortality rate 14-19%

ensure all infants get sleep studies

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32
Q

what is moebius syndrome?

A
  • congenital bilateral absence of cranial nerve VII
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33
Q

what are the classic clinical features of moebius syndrome?

A
  • congenital
  • bilateral
  • absence of CN VII (mask-like facies; definition)
  • other CN: CN VI (65%, inability to abduct eye); CN iii (gaze, ptosis, 23%); CN XII (tongue weakness, 22%); others: CN V, IX, X < 5-10%; important to identify as potential donor nerves
  • other rarer associations w/ Poland, extremity/club foot, SNHL, coloboma
34
Q

what is rhombergs disease

A

progressive hemifacial atrophy

35
Q

what is the typical epidemiology of rhombers disease

A
  • 95% unilateral
  • F>M (3:2)
  • L>R
  • begins 1st or 2nd decade (mean 9-10 yrs; severity inversely proportional to age at presentation)
  • usually burns out 2-10 years later
36
Q

describe clinical features of Rhomberg disease

A
  • area of pigmentation, atrophy of skin, subcutaneous tissue +/- muscle
  • +/- atrophy/hypotrophy of underlying skeleton (zygoma, mx, md) - esp if young age at presentation - occlusal cant etc
  • coup de sabre is a linear atrophic streak; associated w/ linear focal scleroderma
  • other CNS findings include migraine, trigeminal neuralgia, seizures, horners syndrome
37
Q

what are treatment considerations and options for patient w/ Rhomber disease

A
  1. wait until disease process burns out
  2. consider immune treatment if linear scleroderma / coup de sabre
  3. soft tissue: synthetic or biologic or autologous fillers; vs vascularized free tissue transfer (scap/parascap, groin, alt, RFF)
  4. skeletal: alloplastic vs. autologous soft tissue reconstruciton/augmentation; consider only; consider orthognathic
38
Q

what is Nager syndrome?

A
  • rare most commonly sporadic congenital craniofacial and extremity syndrome
  • like TCS but with pre-axial upper extremity anomalies
39
Q

what is Binder sydnrome?

A

binder syndrome is a sporadic congenital maxillonasal dysplasia

40
Q

what are the 6 classicly described features of Binder syndrome?

A
  1. Arhinoid face
  2. Absent/hypoplastic ANS
  3. Absent/hypoplastic frontal suture
  4. Abnormal position of nasal bones
  5. Intermaxillary hypoplasia and malocclusion
  6. Absent nasal mucosa
41
Q

what is stickler syndrome?

A
  • most common hereditary congenital connective tissue disorder (collagen II)
  • hereditary arthro-ophthalmopathy
42
Q

what are the features of stickler syndrome?

A
  • o Ocular – Myopia, strabismus, spontaneous retinal detachments (occur in 70% before age 30), cataracts, glaucoma, blindness (28% unilaterally)

o Facies – Flat midface, hypoplastic maxilla and mandible, prominent eyes

o Oropharyngeal – PRS (most common syndrome of PRS), CP, VPI, dental malformations

o Other – Progressive sensorineural hearing loss, MVP, hyperextensible joints

43
Q

what are the clinical features of q22 deletion syndrome? what are other “names” for this similar syndrome?

A
  • other names: velocardiofacial syndrome, di George syndrome, CATCH syndrome, Spritzen syndrome
  • o C – cardiac/CVS abnormalities: VSD, tetralogy of Fallot, R sided aortic arch, medial displacement carotids

o A – Abnormal facies: Prominent nose, broad nasal dorsum, narrow alar bases, flattened zygomatic arches, long vertical face, retrognathia, class II malocclusion

o T – thymic aplasia

o C – cleft palate (CL/P), VPI

o H – hypoparathyroid

44
Q

what are the features of Beckwith Weideman Syndrome

A

· Clinical Features – ant abdo wall defect (Omphalocele), macroglossia, gigantism (most common overgrowth synd)

45
Q

What type of joint is a cranial suture?

A
  • synarthroidal joint
46
Q

what are the functions of cranial sutures?

A
  1. permit rapid brain growth, especially in first few years of life
  2. permit cranial bone kinesis and deformation during passage during delivery
  3. shock absorption during trauma
  4. provide points of union between different bones
47
Q

When do the major cranial sutures normally fuse?

A
  • metopic 6-8 mos
  • sagittal - 22yrs
  • coronal - 24 yrs
  • lamboidal - 26 yrs
48
Q

define craniosynostosis

A

premature fusion of cranial sutures resulting in suture-specific morphologic abnormalities

  • show an area of restricted growht and an area of compensatory bossing
49
Q

what are the suspected etiologies of craniosynostosis

A
  • Known/unknown developmental reasons
    • Non-syndromic - majority sporadic
    • Chromosomal Syndromic - AD vs. sporadic;
    • Growth factor / gene abnormalities: FGFR, TWIST, MSX2
  • Mechanical factors: olighydraminos, twinning, fetal malposition
  • Metabolic or teratogenic
    • Metabolic Disorders: Hypothyroid, Rickets
    • Mucopolysaccharidoses: Hurler’s syndrome, Morquio’s syndrome, B-Glucuronidase deficiency
    • Mucolipidoses, Mucolipidosis III
    • Hematologic Disorders: Thalessemias, Sickle cell anemia, Congenital hemolytic icterus, Polycythemia Vera
    • Teratogens: Aminopterin, Diphenylhydantoin, Aminopterin, Fluconazole, Retinoic acid, Valproic acid
  • Lack of underlying brain growth: holoprosencephaly, encephalocele, microcephaly
50
Q

List teratogens associated w/ development of craniosynostosis

A
  • aminopterin
  • nitrofuraontoin
  • fluconazole
  • warfarin
  • valproic acid
  • retinoic acid
51
Q

describe theories regarding etiology of deformity

A
  • Primary suture fusion model (Virchow) - in this model, premature fusion of sutures is the PRIMARY abnormality, and any alteration in brain, cranial base growth and development is secondary to premature suture fusion. Here, the osteoinductive properties of the dura promote osteogenesis at sutures
  • Cranial base model (Moss) - in this model, premature fusion of sutures is SECONDARY to underlying primary abnormality in interaction between brain and dura, which tethers the sutures to prevent growth promote fusion
52
Q

How common is craniosynostosis? What is the order of frequency of involved sutures in non-syndromic craniosynostosis

A
  • 1:2500
  • frequency: Sagittal > unicoronal > metopic > bicoronal > other multiple sutures > lambdoid
53
Q

What are the most common craniosynostosis syndromes?

A

Saethre- Chotzen and Crouzon

Also know: Apert, Pheiffer, Muenke, Jackson Weiss

54
Q

Which craniosynostosis syndromes are associated w/ abnormalities in FGFR2?

A
  • Crouzon
  • Apert
  • Pheiffer
  • Jackson Weiss
55
Q

What are the common abnormal genes for growth factors and which craniosynostosis syndromes are associated w/ each?

A
  • FGFR family
    • FGFR2: Crouzon, Apert, Pfeiffer, Jackson Weiss
    • FGFR3: Crouzon w/ AN, Pfeiffer, Muenke
  • TWIST1: Saethre Chotzen
  • MSX2: Boston
56
Q

How do you classify craniosynostosis?

A
  • Primary vs. Secondary
    • primary - non-syndromic, syndromic w/ known mutation, syndromic w unknown mutation
    • secondary - to underlying alternate pathology -ex: small brain size, oligohydraminos, metabolic disorder, teratogen
  • Non-syndromic vs. Syndromic
  • Isolate suture vs. multiple suture
  • By affected suture
57
Q

What are the overall implications for craniosynostosis?

A
  1. Aesthetic concerns and psychosocoal function due to craniofacial disproportion
  2. Functional concerns due to craniofacial disproportion +/- other abnormalities that occur in syndromes
    1. increased ICP
    2. hydrocephalus
    3. poor feeding
    4. airway obstruction / concerns
    5. ocular exposure
  3. Abnormal growth and development
58
Q

Describe some of the functional concerns that may be associated w/ craniosynostosis

A
  1. elevated ICP - ~ 15% non-syndromic and 40+% of syndromic
    1. symptoms: irritable, Nx, Vx, somnolence
    2. signs: papilledema, decrease red reflex, bulging fontanelle, increase HC
    3. ix findings: harlequin sign, thumbprinting, decrease ventricle size, decrease gyri, chiari malformation
  2. Hydrocephalus - +/- related to ICP
  3. Feeding abrnomalities 2’ GERD, obstruction
  4. Ocular issues - exposure keratitis, 2’ CNii abnormality 2’ ICP
  5. Airway - w/ syndromic the proportion of affected patients can be high
    1. due to craniofacial disproption, small oral/nasal airway, OSA
59
Q

what will you ask on history?

A
  • antenatal, perinatal, post-natal history, neonatal, milestones, maternal/paternal history
  • Detailed FHx, consanguinity
  • Other RFs
    • metabolic/teratogenic
    • mechanical
60
Q

What will do you do on physical exam for craniosynostosis

A
  • inspection of calcarium and face
    • airway
    • symmetry, proportionality, head shape, forehead, midface, mandible, skeletal occlusal relationship
    • exophthalmos/proptosis
  • palpation: sutures w/ ridges, movement at sutures, bulging fontanelle
  • cephalic index - max width / max AP x 100
  • ophthalmologic exam - by ophthalmologist for papilledema, decreased red light reflext
  • other ROS: extremity
    *
61
Q

how do you diagnose craniosynostosis?

A
  • history
  • physical exam
  • imaging
    • must for syndrome
    • remains common and gold standard for non-syndromic
    • CT w/ 3D cuts +/- venogram is gold standard
    • MRI considered to rule out coexisting abn CNS or other venous drainage
    • some groups use US for diagnosis, not wide spread
62
Q

describe genetics of non-syndromic craniosynostosis

A
  • majority sporadic
  • +FHx 8-10% coronal; 2% sagittal
63
Q

What are the goals of treatment of craniosynostosis?

A
  • establish symmetry & craniofacial proportion
  • prevent recurrence
  • remove fused suture
  • reposition the bone in anatomic and over corrected position
  • address 2’ compensatory changes
  • fill osteotomy gaps w/ bone slurry
  • tension free soft tissue closure
64
Q

List the complications of treamtent of craniosynostosis

A
  • Early
    • bleeding, transfusion
    • subdural hematoma
    • transfusion reaction
    • infection - suture, meningitis, abcess, OM, line infection
    • dural tear and CSF leak
  • Late
    • recurrence
    • bone gap
    • contour deformity
65
Q

list ways to reduce bleeding / need for transfusion during surgery for craniosynostosis

A
  • local vasoconstrictive into suture line
  • use of calvarial clips along incision
  • bone wa
  • permissive hypotension
  • prophylaxis w/ transexemic acid or E caprioc acid
66
Q

List the phenotypic descriptive names for non-syndromic craniosynostosis and their associated prematurely fused sutures

A
  • Scaphocephaly - sagittal
  • Trigonocephaly - metopic
  • Plagiocephaly - anterior - unilateral coronal
  • Plagiocephaly - posterior - unilateral lambdoid
  • Brachycephaly - bicoronal
  • Turribrachicephaly - bicoronal + no treatment and progressive 2’ compensations
  • Oxycephaly - later bicoronal fusion
67
Q

What are features of scaphocephaly?

A
  • primary: increase AP length, bitemporal pinching
  • secondary: fronto-orbital bossing, occipital coning
68
Q

what are features of anterior plagiocephaly?

A
  • ispilateral: retruded fronto-orbital (forehead & SOR), anterior & superior ear displacement, nasal root/bridge deviation, lateral expansion of middle cranial fossa
  • contralateral: fronto-orbital bossing, chin deviation
  • harlequin deformity
69
Q

describe physical features of trigonocephaly

A
  • primary: triangular forehead pointing, bipareital pinching, hypotelorims
  • secondary: lateral orbital rim recession
70
Q

list physical features of brachycephaly

A
  • primary: short AP diameter and wide bipareital diameter, bilateral retruded forehead and SOR
  • secondary: increase pareital height (particularly when turribrachycephalic)
71
Q

How do you differentiate between positional posterior plagiocephaly and lambdoid craniosynostosis / plagiocephaly?

A
  • Differentiate by means of physical exam!
  • Shape from above
    • Positional: parallelogram; Lambdoid: trapezoid/trapezium
  • Shape from behind
    • Positional: normal; Lambdoid: paralellogram
  • Shape of ipsilateral skull base
    • Positional: normal; lambdoid: inferior tilt
  • Forehead
    • Positional: ipsilateral boss; Lambdoid: contralateral boss
  • Ear
    • Positional: anterior displacement; Lambdoid: posterior and inferior displacement
  • Contralateral boss
    • Positional: occiput; Lambdoid: pareital
  • Ipsilateral occipitomastoid boss
    • Positional: absent; Lamboid present
  • Ridging of lambdoid suture
    • Positional: absent; Lamboid present
72
Q

How do you treat positional plagiocephaly?

A
  • Early and accurate diagnosis
  • Lifestyle modifications: tummy time, distraction to change position, adjusting positional preferences
  • Helmut therapy
    • ideally by 5-6 mos
    • until 12-13 mos
      *
73
Q

Describe important clinically differentiating features of crouzon

A
  • AD, variable penetrance, FGFR2
  • Craniofacial
    • bicoronal synostosis w/ brachycephaly most common phenotype
    • exorbitism and hypertelorims
    • midface hypoplasia, class III malocclusion w/ anterior open bite
  • Other
    • extremity normal
    • CHL
    • associated w/ increased ICP and chiari malformation
74
Q

describe important clinical differentiating features of apert syndome

A
  • sporadic common, also AD, FGFR2 mutation
  • craniofacial
    • bicoronal synostosis w/ turribrachycephaly
    • exorbitism, downslanting palpebral fissure, exorbitism
    • parrot beak nose
    • severe midface hypoplasia & class III malocclusion w/ anterior open bite, at risk for airway obstruction or compromise
  • other
    • complex syndactyly of 2-4 +/- 5;
    • broad thumb radially deviated and can be involved in syndactyly
    • often MR (70%), high associated w/ elevated ICP which requires VP shunt and can recur even after treatment
75
Q

describe clinically differentiating features of

A
  • many features similar to apert
  • AD FGFR2
  • craniofacial
    • bicoronal craniosynostosis, turribrachycephaly
    • exorbitism, hypertelorism
    • parrot beak
    • midface hypoplasia, class III malocclusion w/ open bite, associated w/ airway obstruction/compromise and/or OSA
  • other
    • extremities involved - digits 2-4 syndactyly skin only
    • broad, radially deviated thumbs
    • usually N IQ; associated w/ hydrocephalus
76
Q

describe clinically differentiating features of saethre chotzen

A
  • AD TWIST 1
  • craniofacial
    • variable craniosynostosis - unicoronal < bicoronal; brachycephaly
    • low frontal hairline
    • eyelid ptosis
    • midface ok
  • other
    • syndactyly, but thumbs & halluces usually uninvolved
    • risk for increased ICP
77
Q

which craniosynostosis are associated w/ hypertelorism?

A
  • crouzon
  • pheiffer
  • apert
  • craniofrontaldysplasia
78
Q

describe clinically differentiating features of muenke syndrome

A
  • AD, FGFR3
  • craniofacial
    • variable phenotype; uni and bicoronal synostosis
    • unusual to have midface hypoplasia
    • eye/orbit generally normal
  • other
    • extremities involved but brachydactyly, carpal fusion
    • SNHL
    • developmental delay
79
Q

which craniosynostosis syndromes are associated w/ normal mental function?

A
  • Crouzon
  • Pfieffer
  • Jackson Weiss
  • Saethre Chotzen
80
Q

list choice of operation by each phenotypic description for craniosynostosis

A

Deformity

Procedure Options:

Technical Considerations

Scaphocephaly

(sagittal synostosis)

  1. Strip Craniectomy

Performed < 4 months

  1. Total Vault Remodelling

Most effective in normalizing cranial shape. Goal to reduce AP length and increase BP width

  1. Endoscopic Strip + post-op helmeting

Less morbid OR (shorter, less bleeding but reduced ability to change shape intra-op)

Plagiocephaly

  1. Anterior cranial vault remodeling + fronto-orbital advancement

Goal to advance supraorbital bar and to correct orbital asymmetry

Brachy or turribrachycephaly

  1. ACVR
  2. TCVR

+/- posterior vault distraction

Goal to increase AP length of skull +/- reduce vertical height if excessive

Trigonocephaly

  1. ACVR + fronto-orbital advancement

Goal is to increase bifrontal width and advance supraorbital bar. Bandeau can be Rongeured intra-op to normalize orbital shape

Head and Neck / CF (27 decks)

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