Anatomy

• Frontal sinus appears at 6 years of age

Synostosis

• 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
• Anterior fontanelle closes at 24 months; posterior closes at 2 months

• Sagittal synostosis: scaphocephaly, dolicocephaly; increased AP diameter, decreased parietal width, frontal bossing
• Surgical treatment: cranial vault remodeling with barrel staving, sagittal strip can correct mild forms
• Endoscopic suturectomy and orthotic molding 2-4 months, spring 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
• Metopic ridge can be normal variant- closes at 1 year. If asymptomatic ridge present in a child >1 just observe
• Treat with FOA
• Unilateral coronal synostosis:  frontal flattening and c/l bossing, 
• Harlequin deformity: lack of descent of greater wing of sphenoid 
• 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, FGF
• Nasal root towards ipsilateral
• Non-syndromic will cause posterior positioning of i/s ear toward affected suture
• 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 crainial fossa on unaffected
• Treatment: posterior vault expansion and remodeling, increased ICP can occur
• Ipsilateral ear will be posteriorly positioned –> trapezoid head shape
• Deformational plagiocephaly: often mistaken for synostosis, nasal root midline, cheek backward, chin deviation ipsilateral 
• 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
• Scalp and Calvarial Reconstruction: 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 Syndromes: 

• Crouzon syndrome: FGFR2, hydrocephalus, ICU elevation, type I chiari, bicoronal synostosis (typically brachycephaly), exorbitism, class III malocclusion, conductive hearing loss, recession of frontal bone, hypoplasia of infraorbital rim hypertelorism, can have axial skeletal abnormalities, normal hands and feet
• Remember, treatment of increased intracranial pressure and OSA treated with FOA (monobloc osteotomy)
• Apert syndrome: FGFr2 AD, FGF mutation, ICP elevation (onset 18 months)VP shunts needed, bicoronal synostosis with turribrachycephaly, exorbitism, midface hypolasia, class III malocclusion, complex syndactyly of hands and feet, can develop second episode of ICP elevation, hypertelorism, strabismus, palsy of ocular muscles, slant of palpebral fissures, bregmantic bump (cervical spine)
• Treatment: FOA (before 1 year), followed by Le Fort III with distraction osteogenesis for midface advancement (monobloc-below treats midface and forehead)
• Complication rate close to 20% for LeFort III DO including bone loss, pin migration, loss of fixation, CSF leaks
• 
• Pfieffer syndrome: FGFR1, hydrocephalus, chiari, turibrachycephaly, bicoronal synostoses, exorbitism, hypoplasia of the midface,class III malocclusion (may lead to airway compromise), broad thumbs and halluces, mild cutaneous syndactyly, (II can have kleebattschadel cloverleaf) (cervical spine)
• Antley-Bixler: some types FGFR-2, craniosynostosis, choanal atresia, radiohumeral synostosis
• Saethre chotzen syndrome: AD, TWIST-1, bilateral coronal synostosis, causes dysregulated bone deposition, mental status normal, low frontal hairline, ptosis of eyelids, prominent crus helicis, partial syndactyly
• Meunke: FGFR3, AD, bicoronal synostosis, thumb like middle phalanges, sensorineural hearing loss

Other Syndromes

• Binder Syndrome: localized nasomaxillary hypoplasia –> flat nasal bridge, short retracted columella, columella depressed into floor of nose, anterior nasal spine is absent, class III malocclusion, anterior nasal floor hypoplasia
• Treatment is Le Fort I/II
• 
• Goldenhar’s syndrome: or oculoauriculovertrebral dysplasia –> frontal bossing, low hairline, mandibular hypoplasia, low-set ears and microtia, colobomas of upper eyelid, epibulbar dermoids, b/l accessory auricular appendages, vertebral abnormalities (can be associated with cleft 8) (hemifacial microsomia)
• Fundoscopic examination/cervical xrays (for questions)
• Hemifacial Microsomia (falls into OVA spectrum) branchial arches I,II most common, affected patients have u/l malformations of mandibular ramus (most common) and facial paralysis, includes macrostomia, incomplete development of external and middle ear, zygoma, maxilla, temporal bone,parotid gland, tongue, muscles of palate –> have abnormalities like brachial sinus, CN, typically have VPI
• Treatment: macrostomia first few months –> skeletal/soft tissue 5-6 years (mandibular then maxillary)
• Does not have genetic transmission –> intrauterine event occlusion of stapedial artery/development of hematoma
• Marg mandibular nerve can be out
• Branchio-oto-renal syndome: AD, clinical findings inclue auricular malformations, preauricular skin pits, hearing loss, branchial fistulae, external auditory canal stenosis, renal anomalies
• Kippel-Feil dermoids: fusion of cervical spine with varying involvement of thoracic and lumbar/low posterior hairline, hearing loss, CP

Craniofrontonasal syndrome: mutation in EFNB1e, presents with exorbitism, hypertelorism

• Hypertelorisum treated with orbital box osteotomy or facial bipartition wihtout advancement
• Severe central sleep apnea should be treated with immediate tracheostomy and assisted ventilation

• Velocardial facial syndrome: AD, VPI, developmental delay, upward slanting of palpebral fissures, prominent nose with broad nasal root and narrow alar base, aberrant carotid arteries (22q11.2) use FISH for diagnosis, neural crest cells derive from ectoderm, have calcium issues, get calcium concentration 6hrs post op
• Most common abnormality is cardiac (tetralogy of fallot)
• Immunologic abnormalities are the most common (thymic hypoplasia and diminished T cell production) –> needs immunology consult)
• 
• Nager’s syndrome: acrofacial dystosis- AR hypoplasia of orbits, zygoma, maxilla, madible and soft palate, auricular defects, hypoplasia of radius, thumbs, metacarpals, radioulnar synostosis (malar hypoplasia, class II anterior open bite, clockwise rotation of occlusal plane),short stature
• Treacher-Collins: mandibularfacial dysostosis–> cleft 6-8, AD TCOF1, include hypoplasia of zygoma, maxilla, mandible, downward slanting palpebral fissures, colobomas of lower eyelids, absence of eyelashes, and auricular defects, type II occlusion
• Clefts in inferior orbital floor
• Malar and zygomatic hypoplasia MAIN FEATURE
• 

 

• 
• 0-7 occur on lower half of face, 9-14 occur in the upper hemisphere
• Paramedian clects
• 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!
• Frontonasal/maxillary failed merging can result in tessier 2,3,4
• Failed maxillary and medial nasal process can result in CL
• Proboscis lateralis: failure of fusion of lateral and maxillary nasal process
• 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, Goldenhaar, typically with other syndromes, colombas, zygoma hypoplastic
• 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
• Carpenter syndrome: RAB23 mutation, craniosynostosis causing acrocephaly, partial digital syndactyly and preaxial polysyndactyly of feet with suture synostoses, congenital cardiac disease, hypogenitalism, obesity, umbilical hernia, low set ears AR
• Mobius syndrome: u/l or b/l loss of eye abduction (abducens nerve paralysis), facial paralysis, syndactyly and clubfoot, rudimentary fingers/toes, brachial and thoracic musculature, micrognathia, MR, hypoplasia of maxilla/mandible
• Derived from  1st/2nd branchial arches
• Treatment: free NM muscle transfer, strabismus surgery
• Parry Romberg’s hemifacial atrophy: 2-10 years of age. progressive unilateral loss of facial soft tissue, can also affect underlying skeleton (age of onset correlates with degree of bony hypoplasia) (iris depigmentation); delay surgery until the condition becomes stabilized (cessation of atrophy-2 years or more)
• Mild to moderate: multiple sessions of fat grafting
• Severe: Treatment is microvascular parascapular free flap, Can use buried ALT
• Can have associated neurologic syndromes including hemiatrophy of arm, seizures, migraines horner syndrome, hemiplegia MRI of brain
• Follows trigeminal pattern, but does not affect sensation
• Morphea en coup is variant with vertical furrow, atrophy of tongue and upper lip, absent or flattened zygoma, orbital rim, hypoplastic maxilla and mandible on the affected side
• Can use methotrexate or steroids
• Albright Syndrome: affects calcium and phosphate metabolism, AD, adenylate cyclase, low nasal bridge and short neck
• Stickler syndrome: from a disruption in the formation of collagen. arthro-ophthalmopathy, flat facies (flat nasal bridge) myopia, micrognathia, spondyloepiphyseal dysplasia, CP, hearing loss, associated with pierre robin and includes skeletal abnormalities–> accounts for 25% of syndromic cleft palates
• Pierre Robin: micrognathia, glossoptosis, and respiratory distress. Intubate if prone positioning does not improve airway –> taping if only glossoptosis, mandibular distraction if mandibular hypoplasia
• tongue lip adhesion can optimize airway patency in b/l hemifacial and mandibular microsomia ( should be considered prior to distraction)
• Ectodermal dysplasia: X linked recessive, hypoplastic skin and sparse dermal appendages
• Orbitofacial dermoid cysts: brow region, orbital region, nasoglabellar region –> (typically lateral brow)brow and orbit usually do not have intracranial extension, nasoglabellar will need further studies to rule out intracranial extension
• Intracranial extension typically has broad nasal root and increased intercanthal distance
• Treatment: transcranial and local excision

Encephalocele: neural tube defects that result in sac-like protrusions of the meninges (meningocele) or meningoencephalocele. Can be at various parts of cranium including naso-orbital, frontonasal, nasoethmoidal

• Soft, compressible masses that trans illuminate, can enlarge when intracranial pressure increases (crying)
• most common in US in occipital region, Asia most common in frontoethmoidal

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

• Klippel-Traunaunay: port wine stain, varicose veins, bony and soft tissue hypertrophy of an extremity
• McCune Albright: polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, dysplasia of  skull, long bones and ribs

• Can have growth hormone excess and malignant degeneration of fibrous dysplasia

• Treatment: surgical if function limited; pamidronate can decrease pain, NSAIDS
• Van der Woude: IRF6 AD CLP w/ lip pits, hypodontia, syngnathia, ankyloglossia
• IRF6 can also be associated with nonsyndromic orofacial clefting (can include popliteal pterygium)
• 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
• Commonly associated with facial clefts (cleft lip and palate)
• VACTERL: vertebral, anal, cardiac, TE, renal, limb
• Neurofibromatosis: greater sphenoid wing aplasia, macrocephaly, scoliosis, tibial bowing –> can cause brain herniation with pulsatile exophthalmos, vertical dystopia, enlarged orbital volume –> involves bone grafts or titanium mesh to reconstruct sphenoid wing
• Neurofibromatosis: NF1, AD- most common tumors neurofibromas and optic gliomas, plexiform neurofibromas in 25%, less than 15% chance of developing malignant peripheral sheath tumor (rapid growth, pain indicates need for biopsy)
• Diagnostic criteria includes: family history, two or more neurofibromas, freckling in armpits or groin, lisch nodules, bony dysplasia (sphenoid wing), tumor in optic nerve
• Beckwith Wiedemann: 11p15, macrosomia, omphalocele, macroglossia, auricular abnormalities 
• Diabetic fetopathy: macrosomia, nephromegaly, hepatomegaly

 

• 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 (typically 5-7 days) allows osteocyte precursor cell migration and proliferation/initiation of angiogenesis in maturing clot –> activation phase (1mm day for >1 year; 2-4mm for neonates) –> consolidation phase (typically 6-8 weeks), rigid fixation to achieve union, typically no evidence of bone between device at time of removal
• DO preferred over bone grafting for advancement > 10mm
• Midface DO decreases exorbitism in syndromic patients
• Generate: callus, develops in DO
• Collagen fibers organize parallel to vector of distraction
• Zones: central zone (cellular proliferation of mesenchymal cells), transitional zone (vasculogenesis), paracentral zone (parallel orientation of collagen fibers with osteoid production), transitional mineralization front (primary mineralization with bone spicule formation), mature bone (progressive calcification-formation of cortical and cancellous elements)
• Central zone is known as fibrous zone in mandibular 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
• Miscellaneous:
• Masseter hypertrophy: 
• Idiopathic- treated with Botox as first line