Anatomy & Embryology

• Frontal sinus appears at 6 years of age
• Normal suture fusion: Metopic- 6-8 months, Sagittal 22 yrs, Coronal 24 yrs, Lambdoidal 26 yrs, squamosal 35
• TGF-B plays a role in fusion of posterior ? frontal sutures, also b-FGF
• Fontanelles – Anterior fontanelle closes at 24 months; posterior closes at 2 months

Types of synostosis

• Sagittal synostosis: scaphocephaly, dolicocephaly; increased AP diameter, decreased parietal width, frontal bossing
• Surgical treatment: sagittal strip can correct mild forms, more severe forms require cranial vault remodeling with barrel staving
• Strip suturectomies: Endoscopic suturectomy and orthotic molding can be undertaken at 2-4 months, spring at 6-9 months
• Metopic synostosis: trigonocephaly “keel shaped” triangular”; bitemporal narrowing, hypotelorism, ICP elevation 4-10%
• Most commonly associated with abnormalities of corpus callosum/developmental delay
• Treat with FOA (frontal-orbital advancement)
• FYI Metopic ridge can be normal variant- closes at 1 year. If asymptomatic ridge present in a child <1 just observe
• Unilateral coronal synostosis:  frontal flattening and c/l bossing, 
• Harlequin deformity: lack of descent of greater wing of sphenoid, associated with FGF
• Recessed supraorbital lateral and inferior rim; chin will point on c/l side due to anteriorly displaced glenoid fossa–> strabismus and paresis of superior oblique muscle
• Fontanelle displaced away from affected side
• Nasal root displaced towards affected side
• Non-syndromic will cause posterior positioning of ear on the affected side
• Treatment: FOA
• Bilateral coronal synostosis : brachycephaly –> broad, flat forehead, recession of supraorbital ridges and bulging forehead –> can result and turricephaly with excessive skull height if not treated 
• Wide cranial base with elevation in height of skull, short in AP direction
• FGFR-2 and 3!
• Lambdoid synostosis
• Ipsilateral occipital flatening and mastoid bulge; contralateral protuberance of forehead. larger cranial fossa on unaffected
• Can be associated with increased ICP
• Ipsilateral ear will be posteriorly positioned –> trapezoid head shape 
• Treatment: posterior vault expansion and remodeling
• Deformational plagiocephaly: often mistaken for synostosis, but the nasal root is midline, cheek is displaced posteriorly, chin may be deviated toward the affected side
• U/L findings, flattening of occiput and anterior displacement of ipsilateral ear, “parallelogram”, skull base horizontal and level
• Repositioning exercises followed by helmet
• If from torticollis, OT initial management
• Risk factors include prematurity (most common), intrauterine position, congenital muscular torticollis, plural birth, motor delays
• Oxycephaly: pansynostosis: pointed head, forehead retroverted and tilted back
• Kleeblattschadel (cloverleaf): secondary to synostosis of all sutures except squamosal –> high ICP with moth eaten appearance

Since we are talking about Scalp and Calvarial Reconstruction: general method is autogeneous, split calvarial bone graft using parietal bone, split rib graft

• Alloplastic materials: methylmethacrylate (for adults, can have exothermic reaction-cooled with saline), Medpor, hydroxyapatite calcium phosphate- requires mixing in water, PTFE/GoreTex (biologically inert)
• Autologous bone is the most appropriate material for inlay cranioplasty for a child
• If you accidentally drop the bone flap- decontaminate with triple antibiotic solution and consider reusing. Chlorhexidine choice in skin or composite grafts.

Craniosynostosis/cranial development Syndromes: 
Apert 

• Mutation: FGFR2 (gain of function) autosomal dominant 
• Problems: bicoronal craniosynostosis, midface hypoplasia, complex syndactyly of hands and feet, vertebral fusion, overt or submucous cleft (30%), may have ICP elevation

Crouzon 

• Mutation: FGFR2 
• Problems: apert without the hands/feet anomalies. Bicoronal cranialsynostosis (brachycephaly), shallow orbits (proptosis/exorbitism), midface hypoplasia, conductive hearing loss, parrot beak nose/high crowded dental arch (think toucan) 

Pfeiffer/jackson-weiss 

• Mutation: FGFR1, FGFR2 
• Problems: bicoronal craniosynostosis, maxillary hypoplasia (variable), turribrachycephaly/kleeblattshadel, broad thumbs/great toes (but no/very mild syndactyty), developmental delay, radiohumeral synostosis (frozen elbow) 

Muenke 

• Mutation: FGFR3  (autosomal dominant)
• Problems: bicoronal craniosynostosis, megalencephaly w/o craniosynostosis, midface hypoplasia, ocular hypertelorism, carpal/tarsal fusions (normal hands/feet, or can have thumb-like middle phalanges), neurosensorial hearing loss, strabismus, dev delay 

Carpenter/acrocephalosyndactyly II 

• Mutation: RAB23, autosomal recessive 
• Problems: multisuture craniosynostosis (sagittal/lambdoid), dev delay, ocular hyper/hypotelorism, shallow orbits, proptosis, corneal abnormalities, cardiac defects, hypoplastic ears, flat nose, high arch palate, preaxial polysyndactyly (short, duplicated, and stuck together), symbrachydactyly, hypogenitalism, umbilical hernia      

Saethre-Chotzen/acrocephalosyndactyly III 

• Mutation: TWIST 
• Problems: bicoronal craniosynostosis (brachycephaly), facial asymmetry, strabismus, eyelid ptosis, low frontal hairline, malformed ear (small pinna with prominent superior crus, cleft palate, beak nose, incr ICP, partial syndactyly, delta hallux 

Antley Bixler 

• Mutation: FGFR2, autosomal recessive 
• Problems: craniosynostosis, choanal atresia, radiohumeral synostosis 

Kleeblattschadel 

• Mutation: often related to pfeiffer (FGFR1 or FGFR2) 
• Problems: pancraniosynostosis, moth hole skull, trilobed skull 

McCune Albright 

• Mutation: GNAS 
• Problems: fibrous dysplasia, precocious puberty, café au lait spots, bone pain
• Tx: pamidronate 

Neurofibromatosis 

• Mutation: NF1 
• Problems: facial asymmetry, café au lait spots, sphenoid wing aplasia, pulsatile exophthalmos, freckling of armpits and groin, optic nerve tumor, tibial bowing
• less than 15% chance of developing malignant peripheral sheath tumor (rapid growth, pain indicates need for biopsy)

Craniofrontonasal dysplasia 

• mutation: EFNB1e (x linked dominant)
• problems: craniosynostosis, hypertelorbitism, nasal bifid deformity (broad nasal bridge), frizzy hair, low hairline, agenesis of corpus callosum 

Greig cephalopolysyndactyly 

• mutation:  autosomal dominant, possibly chr 7/13 
• problems: high forehead, frontal bossing, macrocephaly, broad nasal root, postaxial polydactyly and syndactyly

Associated with maxillary/mandibular deformities 
Pierre robin sequence 

• Mutation: growth disturbance of mandible 
• Problems: microgenia, glossoptosis, upper airway obstruction, U shaped cleft palate 
• Treatment for glossoptosis/mandibular hypoplasia – taping if only glossoptosis, tongue lip adhesion, mandibular distraction.

Treacher Collins/mandibulofacial dysostosis/Franceschetti-klein 

• Mutation: TCOF1, PLOR1C, POLR1D 
• Problems: bilateral zygomatic and malar hypoplasia, mandibular/maxillary hypoplasia, microgenia, external ear and lower eyelid abnormalities, downward palpebral fissures, abscnce of lateral orbital wall, lower eyelid coloboma, TMJ ankylosis, cleft palate (associated wit cleft 6-8), VPI 
• Tx: may require treatment for maxillary or mandibular hypoplasia for airway management. must rib graft mandibular condyles if absent 

Acrofacial dysostosis/Nager

• Mutation: chromosome 9 (recessive)
• Problems: radial hand deformity or radioulnar synostosis, mandibular/malar/maxillary hypoplasia, high nasal bridge, long philtrum, cleft palate, VPI, class II malocclusion, short stature

Stickler/hereditary arthro-ophthalmopathy (on the pierre robin spectrum) 

• Mutation: COL2A1, COL11A1, COL11A2 (mutation in collagen II) 
• Problems: collagen type 2 (effects eyes, craniofacial skeleton, ears, joints), cataracts, retinal detachment, micrognathia, midface hypoplasia, malar depression, bifid usual, submucous cleft, sensorineural hearing loss 

Van der Woude 

• Mutation: IRF6 
• Problems: lower lip pits, facial clefting, syndactyly, thumb hyperplasia, syngnathia 
• IGFR6 can also be associated with nonsyndromic clefting (Can include popliteal pterygium)

Popliteal pterygium syndrome 

• Mutation: autosomal dominant IRF6 mutation 
• Problems: popliteal webbing, toe webs, cleft lip/palate, lip pits, webs of mouth and eyelids, hypoplasia of labia majora or scrotum, cryptorchidism 

Velocardiofacial syndrome/digeorge/CHARGE 

• Mutation: 22q11 (dominant), diagnose via FISH
• Problems: HYPOcalcemia, coloboma, heart defects (aberrant carotid arteries), choanal atresia, retardation of growth, genitourinary abnormalities, ear abnormalities/deafness, conotruncal face anomaly (broad nasal dorsum and flattened midface), VPI, clefts, thymic hypoplasia and diminished T cell production
• Get immunology and cardiology on board early

Binder 

• Mutation: nasomaxillary spine hypoplasia 
• Problems: short flat nose (anterior nasal spine absent), short columella, acute nasolabial angle, convex upper lip, class III malocclusion, malar/perialar flatness (dish face), maxillary hypoplasia 

Mobius 

• Mutation: defect in 1^st and 2^nd branchial arches
• Problems: bilateral congenital abducens (strabismus) and cranial nerve palsies, club feet, syndactyly or rudimentary fingers/toes, cardiac defects, cleft, retrogenia, microstomia 

Parry Romberg (linear scleroderma or coup de sabre, progressive hemifacial atrophy) 

• Mutation: *** 
• Problems: progressive hemifacial atrophy (between 5-15 years old, lasting 2-10 years) involving skin, EYE, soft tissue, muscle, bone in trigeminal distribution btu does not affect sensation. +/- epilepsy. May have a vertical furrow.
• Tx: autologous fat transfers (mild-mod), flap (mod-severe once stable, high risk hematoma 7%), methotrexate, steroids. ophtho consult for poss eye involvement 

Goldenhar/Hemifacial microsomia/oculoauriculovertebral spectrum 

• Mutation: faulty neural crest cell migration, intrauterine occlusion of stapedial artery
• Problems: asymmetric midface, microtia, low hairline, coloboma, VPI/cleft, epibulbar dermoids, ear pits, renal, vertebral, cranial nerve palsies, cardiac anomalies.
• Hemifacial microsomia patients have malformations of the mandibular ramus and facial paralysis, incomplete development of ear, maxilla, temporal bone, parotid, tongue, palate, or pharynx

Branchiootorenal syndrome 

• Mutation: EYA1 and SIX1 (dominant)
• Problems: auricular malformations, deafness, preauricular skin pits, small ears,  branchial fistulae, renal anomalies (no face asymmetry) 

Beckwith Wiedmann 

• Mutation: chr 11 
• Problems: macrosomia, macroglossia, omphalocele, ear folds 

Kabuki 

• Mutation: *** 
• Problems: lower lid extropion, long palpebral fissues, broad nasal tip, protruding ears, microcephaly  

Gorlin syndrome (basal cell nevoid syndrome) 

• Mutation: PTCH1 
• Problems: BCC + kyphoscoliosis + keratocystic odontogenic tumors, hand pits, meduloblastoma 

Other congenital growths & sequences
Kippel feil dermoids

• Fusion of cervical spine with varying involvement of thoracic/lumbar. Associated with low posterior hairline, hearing loss, and cerebral palsy

Klippel Traunay

• Port wine stain, varicose veins, bony and soft tissue hypertrophy of an extremity

Albright Syndrome: 

• affects calcium and phosphate metabolism, AD, adenylate cyclase
• low nasal bridge and short neck

Ectodermal dysplasia

• Mutation: x linked recessive trait
• Hypoplastic skin and sparse dermal appendages

Orbitofacial dermoid cysts

• Found in brow, orbital, or nasoglabellar region
• Brow and orbit do not usually have intracranial extension, but nasoglabellar need MRI to rule out intracranial extension

Encephalocele

• Neural tube defect that results in sac-like protrusion of the meningese at cranial sutures
• Looks like soft compressible mass that trans illuminates and enlarges with increased ICP (Crying)
• In US, most common location is occipital, in asia most common is frontoethmoidal

Angiofibromas

• known as juvenile nasopharyngeal angiofibroma. Present in adolescent males with unilateral or bilateral nasal obstruction, frequent epistaxis or blood tinged nasal discharge

Diabetic fetopathy

• Macrosomia, nephromegaly, hepatomegaly

 PHACE: posterior fossa, hemangioma, arterial, cardiac defects, eye anomalies — get MRA of brain 
CHARGE: coloboma of eye, heart defects, atresia of nasal choanae, retardation/growth development, GI, ear and deafness)– orofacial cleft, deletion of CHD7 
VACTERL: vertebral, anal, cardiac, TE, renal, limb

Tessier clefts

• 0-7 occur on lower half of face, 9-14 occur in the upper hemisphere
• These result from failure of merging of the various prominences in the developing face. Failure of maxillary and medial nasal processes can result in cleft lip. Failure of Frontonasal/maxillary prominences can result in tessier 2,3,4. Failure of fusion of the lateral and maxillary nasal processes results in proboscis lateralis (a rudimentary nasal structure that forms off midline)

• Paramedian clefts
• Cleft 0: can have deficient or excess like bifid nose, or frenulum, hypertelorism, deficiency includes absent premaxilla with secondary palate cleft and absence of nasal bones (hypotelorism)–> 14 is a continuation of this; contact between dura and ectoderm through foramen cecum
• Cleft 1: CL/CP
• Cleft 2: hypoplastic ala, rare
• Oronasalocular clefts: 3,4,5
• Cleft 3: common, alar base superiorly displaced and nose foreshortened, lacrimal system blocked, colobomas, globe malpositioning, direct communication of  oral/nasal/ orbital cavities, displaced medial canthus; inferiomedial orbit is absent
• Transverse through lateral incisor and the canine and extend into the floor of the nose, through nasolacrimal system, and orbital floor–> involves medial canthus!
• Cleft 4: lip/orbit (nose uninvolved)-tracks medial to infraorbital nerve, begins at philtral colun, courses laterally to the alar margin, can affect medial lid and disrupt nasolacrimal duct –> resulting in epiphoria
• Cleft 5: involves oral, cheek (maxillary sinus) and orbital cleft- rarest
• Lateral to the infraorbital nerve
• Lateral clefts
• Cleft 6: lower lateral orbit, colobomas
• Cleft 7 OR hemifacial microsomia: most common of all clefts, males, disruption of stapedial artery, zygoma, maxilla, mandible affected, paresis V/VII
• Begins at oral commisure (macrostomia) –> extends towards ear runs through maxillary second molar (stops at masseter) –> can be skin tag or microtic ear
• Maxilla, ramus, zygomatic body, cranial base, open bite (also involves orbit)
• Likely from mandibular and maxillary processes not fusing
• Zygomatictemporal suture is the center
• Cleft 8: always involves orbit, rare,  colombas, zygoma hypoplastic. Goldenhaar, typically with other syndromes,
• Cleft 9: encephaloceles, rare, lateral thrid of lid and brow, CNVII to forehead and upper eyelid, hypoplastic sphenoid –> can be extension of facial cleft 5

OMFS topics

• Occlusions: 
• Angle I: maxillary and mandibular first molar align
• Angle II overbite
• Angle III underbite
• SNA: sella, nasion, alveolus
• SNB: sella, nasion, buccal

 

• Long face syndrome: vertical maxillary hyperplasia with class I malocclusion decreased SNA, SNB –> treatment is Le Fort I osteotomy with superior repositioning of maxilla combined with genioplasty, 
• Characterized by excessive length of lower third of face (lip incompetence, interlabial gap, excessive maxillary incisor show nl is 2-3mm)
• Can do sagittal split with mandibular osteotomy in CONJUNCTION
• Descending palantine artery most likely injured vasculature after Le Fort osteotomy
• Maxillary retrusion: maxillary hypoplasia with shortening and lower vertical height, class III malocclusion, decreased SNA, increased SNB
• Vertical maxillary deficiency: angle II malocclusion, shortening of lower third of face, SNA/SNB decreased –> lefort I
• Distraction Osteogenesis: osteotomy –> application –> latency (wait a bit) –> activation phase (actual device use) –> consolidation phase (waiting for it to solidify before you take it out)
• preferred over bone grafting for advancement > 10mm
• Collagen fibers organize parallel to vector of distraction
• Must have condyles for mandibular distraction or b/l split sagittal osteotomy. w/o it may use costochondral grafts for respiratory compromise (IE in treacher collins)

Miscellaneous

• Teeth anatomy: papilla of parotid duct most commonly located adjacent to second molar as it empties secretions via stenson’s duct
• TMJ: can evaluate by placing either finger inside the EAC clicking when open closed caused by subluxation of articular disk 
• Conservative management: adjustment of bite with a splint, NSAIDS, PT  
• Surgical treatment if fail

Masseter hypertrophy: 

• Idiopathic- treated with Botox as first line