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Craniofacial - Pediatric > Congenital Facial Clefts and common craniofacial anomalies > Flashcards

Congenital Facial Clefts and common craniofacial anomalies Flashcards

1
Q

Describe the embryological prominences forming the face

A
  • 5 prominences
  • FrontoNasal Prominence
    • Medial Nasal Prominence (MNP)
    • Lateral Nasal Prominence (LNP)
    • Nasal placodes
    • Lens placodes
  • Maxillary prominence (paired, 1st BA)
  • Mandibular prominence (paired, 1st BA)
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2
Q

Describe the embryological derivatives of the brachial arches (BA)

A
  • 1st Branchial Arch = Mandibular
    • ​Artery degenerates
    • Nerve: V mandibular br
    • Cartilage: Meckel’s
      • Condyle ->EO
      • Mandible template -> ImO
      • Incus, Malleus
      • Sphenomandibular lig.
      • Zygoma, Maxilla, Squam-Temporal->ImO
      • Greater sphenoid (from Quadrate cartilage
    • Muscles: MMATT
      • Muscles of mastication
      • Mylohyoid
      • Ant. belly digastric
      • TVP
      • TT
  • 1st pouch = Middle Ear, Eustachian Tube
  • 2nd BA = Hyoid
    • ​Artery: stapedial
    • Nerve: VII
    • Cartilage: Reichart
      • Stapes (except foot plate- otic capsule)
      • Styloid process
      • Stylohyoid lig
      • Lesser horn and upper portion of hyoid
    • Muscle DESS
      • Muscle of facial Expression
      • Posterior belly of Digastric
      • Stapedius
      • Stylohyoid
  • 2nd pouch = Tonsillar Fossa
  • 3rd BA = Pharyngeal
    • ​Artery Carotid
    • Nerve: IX Glossopharyngeus
    • Cartilage: Greater horn of hyoid, lower part
    • Muscle: Superior pharyngeal constrictor, stylopharyngeus
  • 3rd pouch = Inferior parathyroid, Thymus
  • 4th BA = Laryngeal
    • ​artery: R subclavian, L aortic arch
    • Nerve: X Vagus
    • Cartilage: Thyroid, Cuneiform
    • Muscle: Inferior pharyngeal constrictor, Cricopharyngeus, LP, Cricithyroid
  • 5th BA =
    • Artery: R and L pulmonary artery
    • Nerve: Recurrent laryngeal n
    • Cartilage: Arytenoid, Cricoid, corniculate
    • Muscle: Intrinsic of larynx except Cricothyroid​
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3
Q

Describe develoment of the face

A
  • wk 4-8
  • FNP
    • Lens placode
    • Nasal placode
    • MNP, LNP fuse with MxP
    • paired MNP= Nasal tip, philitrum, cupids bow, premaxilla, primary palate, nasal septum
    • LNP= ala
    • FNP = forehead, nasal dorsum, derivatives of MNP LNP
  • MxP
    • fusion of MxP + MNP= seperate oral nasal
    • fusion MxP + LNP = Nasolacrimal system
    • MxP = Upper lip excluding philtrum, Upper cheek
    • MxP = zygoma, maxilla, Squamous temporal
    • Quadrate cartilage =>greater wing of sphenoid +incus
  • MdP
    • fusion paired = lower jaw, chin, lower lip
    • Condyle - EO
    • merckels template of mandible =>ImO
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4
Q

How are congenital CF anomalies classified?

A
  • Cleft, Encephalocele, Dysostoses
  • Hypoplasia/atrophy
  • Hyperplasia/neoplasia
  • Craniosynostosis
  • unknown
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5
Q

Name cleftogens

A
  • Maternal infetion: toxoplasmosis, CMV, rubella
  • Maternal metbaolic: phenolketonuria, diabetes
  • Mechanical = amniotic band
  • Chemical - vit A, vitamin deficiency
  • Radiation =
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6
Q

Describe the Tessier facial cleft classification

A
  • clefts labelled 0-14 - 8 is equator at lateral canthus
  • 0,1,2 - lip to nose
  • 3,4,5 - lip to orbit/lower lid
    • 3 = lateral incisor, pyriform
    • 4= lateral incisior, medial to IOF
    • 5- premolar, lateral to IOF
  • 6,7,8 - treacher collins
    • 7- macrostomia
    • 8- lateral canthus
  • 9,10,11 - upper orbit and eyelid
  • 12,13,14 - medial to upper obit
    • 0,14 - fronto nasal dysplasia
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7
Q

Describe clinical manifestation of Tessier cleft 0-14

A
  • Midline Cleft
  • Cleft 0
    • Bone- Central incisors, nasal septum, maxilla
    • ST - median cleft lip, columella
  • Cleft 14
    • Bone - frontal, ethmoid, cribiform
    • ST - forehead,
  • Clinically: encephaloceles, hyper/hypotelorism, bifid nose, median cleft lip
  • Cleft 30 - mandibular extension with mindline course through symphysis, hyoid, sternum, tongue, lower lip, chin, strap muscles
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8
Q

Describe clinical manifestation of Tessier cleft 1-13

A
  • Paramedian Cleft
  • Cleft 1
    • Bone- Central/lat incisors, maxilla, pyriform
    • ST - paramedian cleft lip, ala notch
  • Cleft 13
    • Bone - ethmoid
    • ST -medial eyebrow
  • Clinically: encephaloceles, hypertelorism, notched nose, paramedian cleft lip
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9
Q

Describe clinical manifestations of cleft 2-12

A
  • ParamedianCleft
  • Cleft 2
    • Bone- Lateral incisor,pyriform
    • ST - cupids bow, middle of alae
  • Cleft 12
    • Bone -ethmoid, normal cribiform
    • ST - medial to MCT, middle of brow
  • Clinically: hyperteolorism
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10
Q

Describe clinical manifestation of cleft 3-11

A
  • Lateral Cleft (lip/nose/orbit)
  • Cleft 3 - 4 cavities (oral nasal maxillary sinus orbit)
    • Bone- pyriform, maxilla, lacrimal crest
    • ST - cupids peak, alar cheel jx ,nasolacrimal system disrupted, lower lid coloboma, micropthalmia
  • Cleft 11
    • Bone - ethmoid
    • ST -middle 1/3 of upper eyelid and brow, frontal hairline
  • Clinically:hypertelorism, alar notching, micropthalmia, nasolacrimal disturbance
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11
Q

Describe clinical manifestation of cleft 4-10

A
  • Lateral Cleft
  • Cleft 4 (oral, max sinus, orbital)
    • Bone- lateral to pyriform (no nasal involvement) maxilla, medial orbital rim
    • ST - cleft lip, through cheek
  • Cleft 10
    • Bone - frontal, SOR
    • ST -upper lid, brow, hairline
  • Clinically: cleft lip, obital content prolapse, encephalocele frontal w infero lateral prolapse of orbit
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12
Q

Describe clinical manifestations of cleft 6

A
  • Cleft 6 = incomplete treacher collins
  • zygomaticomaxillary dysplasia
    • Bone- Zm suture, hypoplastic malar prominence, IOFfissure
    • ST - lateral lip to lower lateral lid, lower lid coloboma, lateral canthal dystopia, normal ears
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13
Q

Describe clinical manifestation of cleft 7 and cleft 8

A
  • Cleft 7 - most common
    • Bone - hypoplastic zygoma/maxilla, leading to orbital dystopia + mandible condyle
    • ST - macrostomia, parotid abnormlaities, temporalis muscle hypoplsaia, ear abnormalities
  • Associated with TC, CFM, goldenhar, branchial arch 1 and 2
  • Cleft 8
    • Bone - ZF suture
    • ST - lateral canthus, lower lid coloboma
    • RARE in isolation - most common in TC
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14
Q

Describe clinical features of Holoprosencephaly/Frontonasal Dysplasia, and treatment

A

Clefting of midline structures

  • excess tissue = FND
  • absence of tissue = HPC

CNS: absence of corpus callosum, holoprosencephaly, encephalocele, meningocele, hydrocephalus, mental retardation. Widow peak

Ocular: hypertelorism, telecanthus, epibulbar dermoid

Nasal: midline cleft, bidif nose

Oropharyngeal: median cleft lip, micrognathia

Treatment

  • cranial: incise encaphlocele sac, repair dura, bone reconstruction with facial bipartition
  • Nose: nasal osteotomies, cantilever bone graft
  • Lip - cleft lip repair
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15
Q

How does HPC/FND differ from craniofrontonasodysplasia?

A

CFND is Xlinked (not soradic) and associated with craniosynostosis

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16
Q

Describe the clinical features of HFM/CFM= tessier 7 = 1st and 2nd brachial arch syndromes

A

Craniofacial dysostoses

=OculoAuriculoVertebral spectrum from HFM->Goldenhar syndrome

= 2nd most common congenital malformation, sporadic

Etiology: stapedial artery injury, isotretinoin (vit A) thalidomide

  • CNS
    • ​mental retardation, CN7 palsy (+ 1-9)
  • EYES
    • ​epibulbar dermoid, coloboma iris/lid
    • ptosis, narrow palpebral fissure, enophthalmus, orbit dystopia
    • microph/anophthalmia
  • EARS
    • ​microtia, middle ear deficiency, CHL, preauric tags/sinus, parotid hypoplasia
  • MIDFACE
    • ​zygoma/maxilla/sqaumous temporal bone hypoplasia
    • hypoplasia muscles of mastication, facial expression
  • MANDIBLE
    • ​condylar/manidbular hypoplsia, occlusal cant, anterior open bite
  • OROPHARYNGEAL
    • ​cleft palate, cleft lip, VPI, high arched palate
  • VERTEBRAL
    • ​vertebral fusion
  • CVS
    • ​coarctation of aorta
  • RENAL
    • ​agenesis, hydronephrosis
17
Q

How do you classify HFM

A

OMENS (mulliken) + Mandible by Pruzansky and Ear by Meurman

  • O- Orbital distortion
    • O0- none, O1= size abN, O2 = position abN, O3 = both
  • M- Mandible - pruzasky + Kaban
    • Type 1 - small ramus
    • Type 2 - small ramus/condyle
      • Type 2A - TMJ functional, glenoid-condyle relationship intact
      • Type 2B - TMJ non-functional/absent
    • Type 3 - absent condyle, ramus small/absent
  • Ear (Meurman)
    • type 1 - mild hypoplasia
    • type 2 - only remnant auricle/cartilage
    • type 3 - absent
  • N - Nerve
    • N0 = normal, N1=upper br dysfx, N2= lower br dysfx, N3 = all, Nx = other than CN7
  • S- soft tissue
    • S0 normal, S1- minimal, S2- moderate, S3 - severe
18
Q

Outline the treatment algorithm for a infant with HFM from birth to adolescence

A
  • Birth
    • AIRWAY - trach/mandibular distraction
    • Work-up - abdo U/s (renal agenesis/hydron), echo (coarc/VSD), skeletal survey (vertebral fusion)
    • Consults - ENT, audiology, genetics, social W, orthodontics, speech, dietitcian
  • <2yr
    • Feeding - repair macrostomia, preauric tags/sinuses, CL/P
  • 2yr
    • Mandibular distraction (if type 1-2A)
  • 4yr
    • Mandibular recon with costochondral graft (if type 2b-3)
  • 6-10
    • Microtia recon (>10, chest circumf >60cm)
    • Orbit (increase size w adv. SOR, lateral wall and BG to increase orbital volume
    • Zygoma - BG if necessary
    • Pharyngoplasty/VPI if required
  • Adolescence
    • Mandible - BSSO if required, genioplasty +/i free fibula if requied
    • Maxilla - Lefort 1 if required
    • ST augmentation w autologous materials
19
Q

What is goldenhar syndrome and the clinical features?

A

=OculoAuriculoVertebral Dysplasia

= Bialtreal HFM + other associated features

Clinical features

  • bilat branchial arch 1+2 dysplasia
    • Eye - enopthalmus, lateral canthal dystopia
    • Oropharynx - CLP, VPI
    • Midface - zygoma/maxilla hypoplasia
    • Ear - microtia/preauric pit/sinus, parotid hypoplasia, CHL, middle ear abnorm.
    • CNS - absent corpus callosum, Nerve palsy Cn 7
    • Muscle facial exp/mastication hypoplasia
    • CVS - coart/VSD
    • Renal - agenesis, hydronephro
  • Epibulbar dermoids
  • vertebral anomalies
20
Q

What are names for treacher collins (Franceschetti) syndrome, what is the characterizing feature and the gene mutation

A

Tessier 6,7,8 = zygoTemporoAuroMandibular dysplasia

franceschetti = complete form Tessier 6,7,8

Treacher collins = incomplete Tessier form

  • Characterized by bilateral symmetric absence of zygoma
  • AD w variable expressivity, TCOF1 treacle gene on 5q31
21
Q

Describe the clinical features of treachercollins (Franceschetti) syndrome

A
  • CNS: normal intelligence
  • Orbit:
    • lower lid - lateral 1/3 coloboma, medial 2/3 no eyelashes
    • lateral canthal dystopia
    • vision loss
  • Nose
    • broad base, choanal atresia
  • Oropharynx
    • CP, high arch palate, pharyngeal hypoplasia, macrostomia, VPI
  • Ear
    • CHL, middle ear defomrity/ossicles, microtia/EAC atresia
  • Maxilla
    • hypoplasia/cleft in bone at ZM, ZF, absent IOF
  • Mandible
    • mandible hypoplasia, class 2 malocclusion - absent Zarch
22
Q

Outline the treatment algorithm for TC from birht to adolescence

A
  • Birth
    • AIRWAY - trach
    • FEEDING - NG vs Gtube
    • Work-up - genetics
    • Consults - ENT, audiology, ophtho, dietiticna, speech, social W
  • <1yr
    • CP repair, macrostomia repair, preauric tags/sinuses
  • 5-10
    • Orbit - coloboma recon with lower lid recon (tripier/frcike, msutarde)
    • OrbitoZygomatic complex - recon with BG lat orb wall and floor + malar
    • Ear - microtia recon
  • adolescence
    • Mandible - at skeletal maturity - lefort1/2, BSSO, genio, TMJ condyle
    • Midface - rhino, autologous fillers
23
Q

What is Pierre robin sequence, clinical features and etiology

A

PRS - due to inciting event which leads to subseuqent defomrity

  • Inciting cause - microgenia (mandible deformity)
  • Leads to triad
    • micrognathia
    • glossoptosis
    • airway compromise
  • Clinical features
    • 1/3 have CP
    • 1/5 have MR
    • all have GERD
  • Etiology - many PRS associated w causes
    • SHOULD find etiology b/c will determine if extrinsic/intrinsic problem w mandibel growth and if it will catch up
    • Pierre, my Naging Teacher is a Stickler for Beck’s Alcohol VCF
      • Nager
      • Treacher collins
      • Stickler syndrome * most common
      • Beckwidemann
      • Ftal alcohol syndrome
      • VCF
24
Q

Outline management of PRS

A
  • AIRWAY
    • monitoring for hypoxemia (risk of cor pulmonale, FTT, death)
    • prone sleeping, +/_ NasoPharyngeal tube
    • O2 monitoring, sleep studies
    • Tongue lip adhesion - released at 12mth w CP repair
    • Mandibular distraction
    • Trach
  • Feeding
    • NG, Gtube, antigerd meds
  • Mandible - may catch up growth or orthognathic surgery
25
Q

What is Moebius syndrome, list the clinical features

A
  • generally bilateral CN7 (+/-CN6) congenital palsies - unclear if neural or myopathic etiology

Clinical features

  • Eye: CN6 (60%), CN3 (30%), Hypetelorism, coloboma, palpebral fissure, epicanthal folds
  • Facies: CN7 palsy with Upper br worse than lower br, bilateral, difficulty closing eyes
  • Oropharynx: CN12 - tongue weakness/atrophy, CN 9,10 (10%) difficulty swallowing, airway/speech issue
  • Ear - SNHL, low set ears
  • Skeletal - Poland
  • CNS 10% mental retardation
26
Q

What is romberg’s disease

A
  • slowly progressive atrophy of soft tissue and bone
  • self limited
  • unilateral
  • L>R, F:M
  • Onset 10-20, progresses over 2-10yrs, starts with coup de sabre - linear scleroderma
  • Diff b/w scleroderma and romberg - elastin preserved in romberg

Clinical features

  • Facies - atrophy of skin, sc, muscle, fat, alopecia
  • Oropharyngeal - atrophy of tongue/lip, zygoma/maxilla
27
Q

What is Nager syndrome

A

= mandibulofacial dysootosis + preaxial limb abnormality

Naging Teacher with a missing thumb

=> similar to TC but with preaxial abnormality of thumb hypoplasia, RLD, or duplications/failureof differetniation

28
Q

What is binder syndrome

A

Nasomaxillary dysplasia

Characteristic feature - absence of ANS

Clinical features

  • Nose
    • short, absent ANS, poorly projected tip, short oclumella, wide flatten ala, acute NL angle, obtuse NF angle
  • Lip
    • wide philtrum,
  • Maxilla
    • hypoplastic maxilla, class 3 short alveolar process

Treatment

  • Maxilla positioned first - LeF 1/2 adv+lenthening +/- BSSO, genio
  • Nose - nasal lenghthening, columella recon, tip projection
29
Q

What are features of down syndrome related to craniofacial/UE for consideration of treatment

A
  • Cranial: brachycephaly, metopic CS, absent frontal/sphenoid sinuses
  • Orbit: lateral canthal dystopia (upward), epicanthal folds, hypotelorism
  • Ears, low set, HL
  • Oropharynx - macroglossia, Maxillary hypoplasia, microgenia, type 3 malocclusion, lower lip hypotonia
  • Hand - brachydatyly, clinodactyly , D5 single crease, simian crease of hand,

Treatment

  • Macroglossia correction
  • Orthodontics and orthognathic surgery
  • lateral canthopexy, epicanthal fold correction
30
Q

What is stickler syndrome

A
  • Inherited CP, arthropathy with ocular D
  • AD with variable penetrance
  • COL2A mutation - type 2 procollagen

Clinical features

  • Ocular: myopia, spontaneous retinal detahment, cataract blindness
  • Ear - progressive SNHL
  • CP, VPI
  • MSK - degenerative jt disease, hyperextensible joints
  • Associated with PRS
31
Q

What is Vander Woude syndrome

A

Most common form of syndromic Cl/P

CL/P + lower lip pits/sinuses

  • AD, IRF6 mutation
32
Q

What is Velocardiofacial syndrome, clinical features

A

VCF = CP, congenita lheart disease, facies, learning disability

  • AD, variable
  • Most common cleftins syndrome
  • 2nd most common syndrome ass with CP

Clinical features

  • Eye: lateral canthal dystopia, microphthalmia
  • Oropharynx: CL/P (most common SubMCP), VMExcess!!, retrognathia, , class 2
  • Cardiac: VSD, medial internal carotids
  • CNS: LD
33
Q

What is Digeorge syndrome and howdoes it differ from VCF

A

Digeorge - defect of 3rd and 4th pouches

  • Hypo PTH (absent inf/sup parathyroid)
  • Absent thymus
  • Conotruncal anomaly

Plus above for VCF (becaseu they are both deletion of 22q11)

34
Q

What is Beckwidth wiedermann

A

Overgrowth syndrome, AD

Clinical feature

  • macroglossia
  • omphalocele
  • gigantism

Associated with

  • prenatal/postnatal overgrowth
  • hypoglycemia
  • organ overgrowht (liver/renal)
  • wilms tumor
35
Q

What are congenital and acquired causes of hypertelorism

A

CONGENITAL

  • FNP, HPC
  • Facial clefting
  • encephalocele
  • crnaiosynostosis

ACQUIRED

  • trauma
  • tumor
36
Q

What are features of macroglossia(3) and DDx

A

Features

  • open bite deformity, mandibula rprognathism, malocclusion

DDx

Congenital

  • MPS
  • Downs
  • Beckwith Wiedemann, Behmel
  • glnad hyperplasia, hemangioma, lymphagioma

Acquired

  • Endo: hypoT, DM, acromegaly
  • Infiltrative: amyloid/sarcoid
  • Infectious: TB, syphilis, Ludwigs angina
  • Tumor: NF
  • Nutritional - vit B12 deficiency

Craniofacial - Pediatric (4 decks)

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