Pediatric Craniofacial Defects and Syndromes

Craniofacial Defects & Syndromes: Types

• Craniosynostosis
• Apert syndrome
• Treacher Collins syndrome
• Pierre Robin syndrome
• Goldenhar syndrome
• Cleft lip & palate

Craniosynostosis

• Congenital anomaly from premature fusion of cranial sutures, caused by specific gene mutation
• Normal cranial sutures fuse around 1 year of age
• Deformity severity can vary
• More common in males
• Sagittal synostosis is the most common form
• Surgery is typically performed within the first 6 months of life

Craniosynostosis: Associated Signs & Symptoms

• Neurologic symptoms include cranial nerve dysfunction, increased ICP, and seizures
• Airway issues include micrognathia, mandibular hypoplasia, obstructive sleep apnea (OSA), and hypoventilation
• Cardiopulmonary issues involve pulmonary and cardiac defects

Apert Syndrome (Acrocephalosyndactyly)

• Most severe craniosynostosis syndrome
• Coronal sutures commonly involved
• Flat face, midface hypoplasia
• Hypertelorism (widely spaced eyes)
• Exophthalmos
• Symmetric syndactyly (fusion of fingers/toes)
• Cleft palate
• Congenital heart disease (CHD)
• Obstructive sleep apnea (OSA)
• Autosomal dominant genetic inheritance
• Mutation occurs on chromosome 10

Crouzon Syndrome

• Bilateral coronal suture fusion
• Incidence is 1 in 50,000, with unknown cause
• Facial features are similar to Apert syndrome
• Increased brachycephalic skull
• Forehead and brow retrusion
• Midface hypoplasia
• Shallow orbits, proptosis (bulging eyes)
• Orbital hypertelorism (less than in Apert syndrome)
• Nasomaxillary retrusion can lead to nasal obstruction and mouth breathing
• Protruding maxillary teeth due to limited space in mouth
• Other issues include conductive hearing loss and high-arched or cleft palate

Surgical and Anesthetic Considerations for Crouzon Syndrome

• Positioning involves prone position on bean bag with chin headrest
• Large blood losses 15-20% of blood volume
• Significant fluid shifts
• Airway compromise: some patients may already have a tracheostomy
• Difficult mask ventilation due to micrognathia
• Pressure sores due to surgery length
• Metabolic disturbances
• Risk of venous air embolism (VAE)

Pierre Robin Syndrome & Sequence

• Syndrome involves multiple anomalies with single pathogenesis
• Signs and symptoms include micrognathia (small jaw) and retrognathia, glossoptosis (tongue displacement), cleft palate, and bilateral eye defects
• Sequence involves isolated signs or part of a syndrome
• Associated with airway obstruction and risk for difficult intubation
• Mandibular Distraction Osteogenesis (MDO) is used to correct micrognathia and airway obstruction in any syndrome with micrognathia, using implanted pins to pull the jaw forward

Treacher Collins Syndrome

• Genetic disorder affecting craniofacial development (eyes, ear, and face)
• Incidence is 1 in 50,000
• Autosomal dominant genetics (mutations in 60% of cases)
• Craniofacial features include absent or hypoplastic facial bones, narrow face, depressed cheekbones, large downturned mouth, and auricular malformations
• Bilateral colobomas (notch in the eye)
• Associated with cleft palate
• Hearing and vision loss in about 50% of cases

Goldenhar Syndrome (Oculoauriculovertebral Syndrome)

• Craniofacial features include hemifacial microsomia, cleft lip/palate, and asymmetrical facial anomalies
• Other defects include cardiac (e.g., Tetralogy of Fallot, TOF), renal and urogenital issues, and cervical spine abnormalities
• Skeletal & Spinal Abnormalities: spinal deformities include scoliosis, kyphosis, or both, and rib anomalies (thoracic insufficiency, decreased lung function)
• Effects include poor growth and restrictive lung disease
• Cervical spine abnormalities may cause positioning concerns

Cleft Lip & Cleft Palate

• Cleft Lip is a congenital facial deformity of the lip
• Cleft Palate is incomplete fusion of the roof of the mouth
• Complications include poor speech and hearing, and eustachian tube dysfunction leading to chronic otitis media
• Surgical timing: cleft lip repair at ~1 month old, cleft palate repair at ~1 year old
• Airway management: routine cases have few airway issues, while extensive clefts with retrognathia lead to difficult intubation

Anesthetic Considerations for Cleft Lip/Palate Surgery

• Shared airway management: oral RAE ETT taped midline, nasal airway may be contraindicated
• Mouth gag & throat packs in use
• Risk of ETT displacement due to neck extension and mouth gag removal
• Routine monitors and warming devices

Cleft Lip/Palate Surgery: Monitoring & Equipment

• PNS (neuromuscular monitoring)
• Eye protection (lubrication, tape)
• Precordial Doppler, if in sitting position
• Preop labs necessary
• Type and cross if transfusion seems possible
• Place OG tube before extubation to empty stomach
• Possible tongue/oropharynx swelling post-op may cause airway compromise
• Arm restraints may be applied to prevent disruption of repair

Orthopedic & Urologic Surgical Considerations

• Scoliosis: structural disease of the vertebral column
• Can be congenital or acquired
• Degrees of lateral angulation mark the severity
• Greater angle = a more severe condition
• Restrictive respiration pattern
• Compensation leads to decreased chest wall compliance, lung capacity, and volume
• Greatest decrease in vital capacity
• Rib cage deformities increase PVR, RVH, RAE, and pulmonary HTN
• Cobb method is used to determine/measure spinal curvature

Harrington Rod Procedure

• Scoliosis correction
• Spinal stabilization
• Preoperative considerations inlude H&P evaluation
• Labs include H/H, Coag, Electrolytes
• Religious considerations (Jehovah's Witness – autologous blood donation?)
• Autologous blood donation & red cell salvage
• Possible premedications
• Intraoperative considerations: routine monitors, PNS (TOF flat)
• Prone positioning with head and neck midline
• Eye protection
• Spinal cord monitoring: SSEP, MEP
• Wake-up test
• Controlled hypotension: MAP 55-60 (adjusted for age/comorbidities)
• Objective: Reduce bleeding and improve surgical field
• Emergence & postoperative care includes pain control, blood loss monitoring, hemodynamics, and I/O assessment
• Assess for continued intubation vs extubation
• Sclera edema usually correlates with airway edema

Blood Supply to the Spinal Cord

• Anterior spinal artery supplies anterior 2/3 of cord
• Single artery with inconsistent flow in thoracolumbar region
• Highly dependent on radicular flow
• Runs the length of the spinal cord longitudinally along the anterior median fissure
• Aorta →Subclavian artery→-vertebral artery→ anterior spinal artery
• Aorta →Segmental artery→ anterior radicular artery →anterior spinal artery
• Posterior spinal arteries supplies posterior 1/3 of cord
• Two arteries in use
• Runs the length of the spinal cord longitudinally bilaterally
• Aorta →Subclavian artery→-vertebral artery→ posterior spinal artery
• Aorta →Segmental artery→ posterior radicular artery→ posterior spinal artery
• Radicular arteries provide additional blood flow to the anterior and posterior spinal arteries
• 6-8 radicular arteries located in thoracolumbar regions
• Main radicular artery: Artery of Adamkiewicz, largest & most important
• Provides most of the blood supply to the anterior, lower 2/3- thoracolumbar region
• More commonly arises from the left
• Variation in origination of this artery: more commonly arises from left T11-12
• 75% population- T8-12
• 10% of population will have origin at - L1-2
• Watershed areas- single blood supply and are vulnerable to ischemia
• Thoracolumbar regions are spinal watershed areas because they are highly dependent on radicular arteries

Regulation of Blood Flow in the Spinal Cord

• Normal autoregulation: MAP between 50-150 mm Hg or 60 to 160 torr
• MAP < 50 mm Hg leads to ischemia
• MAP > 150 mm Hg leads to tissue edema, hyperemia
• Autoregulation shifted for patients with chronic hypertension and will need a higher MAP to maintain CPP
• Alterations of PaCO2 and PaO2 disrupt spinal cord autoregulation

Deliberate or Controlled Hypotension

• Induced hypotension to reduce surgical bleeding
• MAP Target: 55-60 mmHg (adjusted per age, comorbidities)
• Advantages: Improved surgical exposure
• Disadvantages: risk of hypoperfusion, organ ischemia, and rebound hypertension
• How to perform?
• VIAGRA acronym = vasodilators (Sodium nitroprusside, nitroglycerin, adenosine), inhaled agents/IV anesthetics, adrenergic blockers, ganglion blockers, regional anesthesia

Klippel-Feil Syndrome (KFS)

• Congenital cervical vertebral fusion
• Symptoms may not be apparent at birth but worsen with time
• Triad of symptoms: Short, webbed neck, limited cervical mobility, and a low posterior hairline
• 60% have scoliosis
• 45% have posterior spina bifida
• 35% have renal anomalies
• 30% have hearing or speech impairments
• 20% have synkinesia (mirror movements)
• Ventral-septal defect
• Syndactyly
• Cleft palate & Sprengel (shoulder) deformity common

Considerations for Klippel-Feil Syndrome (KFS)

• Airway Management: difficult intubation expected, plan alternatives
• Limited cervical spine movement
• Recessed jaw may indicate difficult cric
• Awake fiberoptic intubation may be a good management choice
• An LMA is possible if their mouth opening allows it
• Surgical Considerations: spine stabilization procedures and positioning concerns

Osteogenesis Imperfecta (OI)

• Hereditary connective tissue disorder causing fragile bones
• Incidence is 1 in 20,000-60,000 live births
• Broad forehead
• Blue sclera due to deficiency in collagen
• Bowed legs and barrel chest
• Joint hypermobility
• Easy bruising
• Increased fracture risk
• Severity varies from mild to lethal (OI Congenita), marked by intracranial hemorrhage risk, severe thoracic deformity, respiratory failure, and death.
• Type 2 associated with perinatal or neonatal death
• Type 3 is most severe for those that live past birth

Anesthetic Considerations for Osteogenesis Imperfecta (OI)

• Preoperative: Assess for new/existing fractures and evaluate airway (dental fragility)
• Intraoperative: Positioning precautions to prevent fractures, gentle airway management, and pain control strategies

Prune Belly Syndrome (PBS)

• Also called Eagle-Barrett Syndrome or Triad Syndrome
• Triad of Features: Abdominal muscle deficiency (Wrinkled belly appearance), urinary tract anomalies, and Bilateral cryptorchidism (undescended testes)
• Incidence: 1 in 40,000 live births
• Mortality & Prognosis: 20% stillborn, 30% die of renal failure/sepsis, and 50% have chronic urinary pathology

Hypospadias

• Urethral opening located on the underside of the penis
• Surgical repair typically performed in infancy/early childhood, using general anesthesia ± caudal or regional anesthesia
• Anesthetic Considerations: Routine monitors and all anesthetic agents are acceptable

Testicular Torsion

• Twisting of testicle & spermatic cord blocks blood flow → ischemia
• Age Groups Affected: Neonates, preadolescents, adolescents
• Sudden scrotal pain & swelling
• High-riding, firm, tender testicle
• Loss of cremasteric reflex (reflex that causes testicles to elevate in response to stimulation of upper thigh)
• Nausea, vomiting
• Treatment: Manual Detorsion first
• Surgical Correction: viability required
• Anesthetic Considerations: Medical emergency that requires immediate intervention
• Management will depend on anesthetic routine
• GA preferred
• Pain control post-op
• General Anesthetic Considerations for Urologic Surgery
• Preoperative: Full assessment, including renal function
• Intraoperative: Routine & specialized monitors as needed, and appropriate fluid management
• Postoperative: Pain control and airway considerations

Final Considerations & Questions: Key Focus Areas

• Each pediatric condition presents unique anesthetic challenges
• Airway: Difficult intubation potential in craniofacial and spinal anomalies
• Positioning: Spine and musculoskeletal disorders require careful handling
• Blood Loss: High-risk surgeries require transfusion planning
• ICP Management: Strict ICP control by neuroanesthesia cases
• Cardiopulmonary Considerations: the impact of congenital disorders on the heart and lungs
• Post op Pain control