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SURGERY OF CRANIOFACIAL ANOMALIES.pptx
- 1. Presented by Dr. Debraj Samanta DEPARTMENT OF ORAL AND MAXILLOFACIAL SURGERY HIDSAR,WEST BENGAL
- 2. INTRODUCTION Craniofacial anomalies, one of the subtypes of congenital disorders, are characterized by the abnormal development of soft tissues and bones of the face and the skull that results in the formation of different head and facial features. Early closure of skull bones results in a new head shape that restricts the normal growth and development of the brain.
- 3. HISTORY The first surgical repair of craniosynostosis was performed by Lannelongue in 1892. Mohr et al. published their experience in craniosynostosis repair emphasizing the etiologic involvement of the anterior skull base, and employing extensive vault reconstruction. In 1978, Jane et al. published their pi (p) technique to accomplish immediate reconstruction of frontal bossing. Anderson, in 1981, described his experience in the treatment of coronal and metopic synostosis. In 1984, Jane et al. published their technique for the treatment of unilateral coronal synostosis, which included dural plication. In 1985, Albright described his correction of sagittal synostosis, which included extensive occipital circular, and parietal wedge craniectomies.
- 4. Embryologic development of cranial sutures This morphogenic developmental process starts at an early embryonic phase (twentieth week) and ends during adulthood. The cranium is divided into two parts: the neurocranium that protects the brain and the viscerocranium that forms the face skeleton, which occurs through the intramembranous (IM) and endochondral (EC) bone formation, respectively.
- 5. During cranial vault development, IM ossification initiates undifferentiated mesenchymal cell condensation and surrounds the sutures. Initially, after the condensation begins, cells start to proliferate from the osteogenic fronts. The condensation of mesenchymal differentiation triggers the proliferation of chondrocytes and perichondrial cells. During this ossification process, some transcription factors play an important role, such as RUNX2 and OSX in osteoblast development, transforming growth factor beta (TGF-b) in inhibition of chondrocyte proliferation, and MSX2 in inhibition of calvarial osteoblast differentiation.
- 7. Anatomy
- 8. Anterior fontanelle Diamond shaped & lies b/w 2 parietal & 2 frontal bones Found at intersection of the sagittal, coronal, & frontal sutures. Largest fontanelle and closes at 18-24 months. Posterior fontanelle Lies b/w 2 occipital & parietal bones Closes at 2-3 months after birth Anterolateral fontanelle Formed b/w frontal, parietal, & sphenoid bones. Closes at 6 months
- 10. Unilateral Coronal Synostosis Unilateral coronal synostosis results in flatness on the ipsilateral side of the forehead and supraorbital ridge region. The head is inherently asymmetrical in shape with a flattened or retropositioned forehead on the ipsilateral side.
- 11. The frontal bone is flat, and the supraorbital ridge and lateral orbital rim are recessed and the anterior cranial base is short in the anteroposterior dimension. The root of the nose may be constricted and deviated to the affected side. The ipsilateral zygoma and infraorbital rim also may be flat and recessed.
- 12. SURGICAL MANAGEMENT Multiple surgical approaches for the correction of unilateral coronal synostosis. Rim advancement and frontal bone reshaping are ideally performed at 6 to 8 months of age. Stabilization is achieved by using direct intraosseous wires or resorbable plates and screws.
- 13. Bilateral Coronal Synostosis Bilateral coronal synostosis is the most common cranial vault suture synostosis pattern associated with Apert’s and Crouzon’s syndromes. Bilateral coronal synostosis results in recession of the supraorbital ridges, which causes the overlying eyebrows to sit posterior to the corneas. The orbits are also shallow (exorbitism), with the eyes bulging (exophthalmus) and abnormally separated (orbital hypertelorism). The recessed supraorbital bone, the forehead appears to be lower and there is sagittal shortening of the skull. The term for this cranial vault deformity is brachycephaly.
- 14. SURGICAL MANAGEMENT The treatment of bilateral coronal synostosis requires suture release and simultaneous bilateral orbital rim and frontal bone advancements. Surgery is performed when the patient is between 6 and 8 months of age. The osteotomies for the bilateral orbital rim advancement are made superior to the nasofrontal and frontozygomatic sutures and extend to the squamous portion of the temporal bone. Stabilization is achieved with direct transosseous wires or resorbable plates and screws.
- 15. anterior cranial vault and orbits after osteotomies, reshaping, and fixation of segments
- 16. Metopic Synostosis Metopic synostosis usually occurs in isolation and results in a triangular shape to the skull. The term for this cranial vault deformity is trigonocephaly. The associated cranial vault deformity consists of relative hypotelorism, an elevated supraorbital ridge medially, and posteroinferior recession of the lateral orbital rims and lateral aspect of the supraorbital ridges.
- 17. SURGICAL MANAGEMET Surgical treatment of metopic synostosis involves metopic suture release, simultaneous bilateral orbital rim advancements, and lateral widening via frontal bone advancement. These procedures are usually performed at 6 to 8 months of age. Orbital hypotelorism is corrected by splitting the supraorbital ridge unit vertically in the midline and placing autogenous cranial bone grafts to increase the intraorbital distance. Stabilization is achieved with direct transosseous wires or resorbable microplate fixation. The microplate fixation is usually placed at the inner surface of the cranial bone. split vertically at the midline and and interpositional autogenous cranial bone graft placed to correct hypotelorism.
- 18. proposed osteotomy and bifrontal craniotomy sites Superior view of bandeau before reshaping Observation of the gap between the bandeau and the anterior cranial base assists in assessing ideal placement and bitemporal expansion anterior cranial vault after osteotomies, reshaping, and fixation
- 19. Sagittal Synostosis Sagittal synostosis, the most common form, is rarely associated with increased intracranial pressure. The skull typically has anteroposterior elongation with a compensatory transverse narrowing. The term for this cranial vault deformity is scaphocephaly.
- 20. Unilateral Lambdoid Synostosis Unilateral lambdoid synostosis results in flatness of the affected ipsilateral parieto-occipital region. The location of the ear canal and external ear is more posterior and inferior on the ipsilateral side than on the contralateral side. The term for this cranial vault deformity is posterior plagiocephaly.
- 21. FUNCTIONAL CONSIDERATIONS Brain Growth and Intracranial Pressure Vision Hydrocephalus Musculoskeletal anomalies Neurological abnormalities Effects of Midface Deficiency on Airway Dentition and Occlusion Hearing Extremity Anomalies
- 22. FUNCTIONAL CONSIDERATIONS Brain Growth and Intracranial Pressure Premature fusion of sutures causes limited and abnormal skeletal expansion in the presence of continued brain growth. A “beaten-copper” appearance along the inner table of the cranial vault seen on a plain radiograph or the loss of brain cisternae as observed on a computed tomography (CT) scan may suggest elevated ICP.
- 23. Vision Untreated craniosynostosis with elevated ICP will cause papilledema and eventual optic nerve atrophy, resulting in partial or complete blindness. orbits are shallow (exorbitism) and the eyes are proptotic (exophthalmos), as occurs in the CFD syndromes, the cornea may be exposed and abrasions or ulcerations may occur. CFD result in a marked degree of orbital hypertelorism, which may compromise visual acuity and restrict binocular vision.
- 24. Hydrocephalus Hydrocephalus affects as many as 10% of patients with a CFD syndrome hydrocephalus may be secondary to a generalized cranial base stenosis with constriction of all the cranial base foramina, which affects the patient’s cerebral venous drainage and cerebrospinal fluid (CSF) flow dynamics. Hydrocephalus may be identified with the help of CT or magnetic resonance imaging (MRI) to document progressively enlarging ventricles.
- 25. MUSCULOSKELETAL ANOMALIES Cervical abnormalities are common and including- BUTTERFLY VERTERAE POSTERIOR FUSION
- 26. NEUROLOGICAL ABNORMALITIES Acquired chiari malformation( chronic tonsilar herniation) are present in 72.7% of crouzan syndrome. Due to premature fusion of sagittal and lambdoid sutures leads to very small postyerior fossa that causes cerebellar tonsilar herniation.
- 27. Effects of Midface Deficiency on Airway have diminished nasal and nasopharyngeal spaces with resulting increased nasal airway resistance (obstruction). The affected child is thus forced to breathe through the mouth Clinical symptoms of OSA will include heavy snoring, difficulty in awake breathing, observed apnea during sleep, excessive perspiration during sleep, and daytime somnolence. Polysomnography remains the gold standard for diagnosis.
- 28. Dentition and Occlusion The incidence of dental and oral anomalies is higher among children with CFD syndromes than in the general population. In Apert’s syndrome in particular, the palate is high and constricted in width. The incidence of isolated cleft palate in patients with Apert’s syndrome approaches 30%. An Angle class III skeletal relationship in combination with anterior open bite deformity is typical.
- 29. Hearing Hearing deficits are more common among patients with the CFD syndromes than in the general population. In Crouzon’s syndrome, conductive hearing deficits are common, and atresia of the external auditory canals may also occur. Otitis media is more common in Apert’s syndrome
- 30. Extremity Anomalies Apert’s syndrome results in joint fusion and bony and soft tissue syndactyly of the digits of all four limbs. These Apert associated extremity deformities are often symmetrical. Partial or complete fusion of the shoulder, elbow, or other joints is common. Broad thumbs, broad great toes, and partial soft tissue syndactyly of the hands may be seen in Pfeiffer’s syndrome. Preaxial polysyndactyly of the feet may also be seen in Carpenter’s syndrome.
- 31. MORPHOLOGIC CONSIDERATIONS Frontoforehead Aesthetic Unit Orbitonasozygomatic Aesthetic Unit Maxillary–Nasal Base Aesthetic Unit CT Scan Analysis Cephalometric Analysis
- 32. MORPHOLOGIC CONSIDERATIONS Frontoforehead Aesthetic Unit The frontoforehead region is dysmorphic in an infant with CFD. The forehead may be considered as two separate aesthetic components: The supraorbital ridge–lateral orbital rim region includes the glabella and supraorbital rim extending inferiorly down each frontozygomatic suture toward the infraorbital rim and posteriorly along each temporoparietal region. The morphology and position of the supraorbital ridge–lateral orbital rim region is a key element of upper facial aesthetics.
- 33. Orbitonasozygomatic Aesthetic Unit In CFD syndromes, the orbitonasozygomatic regional deformity is a reflection of the cranial base malformation. In Crouzon’s syndrome when bilateral coronal suture synostosis is combined with skull base and midfacial deficiency, the orbitonasozygomatic region will be dysmorphic and consistent with a short (anteroposterior) and wide (transverse) anterior cranial base. In Apert’s syndrome, the nasal bones, orbits, and zygomas, like the anterior cranial base, are transversely wide and horizontally short (retruded), resulting in a shallow hyperteloric upper midface (zygomas, orbits, and nose)
- 34. Maxillary–Nasal Base Aesthetic Unit In the CFD patient with midface deficiency, the upper anterior face (nasion to maxillary incisor) is vertically short, and there is a lack of horizontal anteroposterior projection of the midface. These findings may be confirmed with cephalometric analysis that indicates a sella-nasion angle (SNA) below the mean value and a short upper anterior facial height (nasion to anterior nasal spine).
- 35. CT Scan Analysis The use of CT scans has clarified our appreciation of the dysmorphology of a child born with a craniofacial malformation. Accurate standardized points of reference have been identified in the cranio-orbitozygomatic skeleton based on axial CT images. Cephalometric Analysis The interpretation of cephalometric radiographs remains useful in the analysis of facial heights and maxillary, mandibular, and chin positions and their relationships to one another, the cranial base, and the dentition
- 36. PRINCIPLES OF MANAGEMENT Multidisciplinary Team Approach Current Surgical Approach
- 37. CRANIOFACIAL MANAGEMENT Philosophy Regarding Timing of Intervention Incision Placement Subperiosteal dissection and osteotomies Overcorrection, stabilization/fixation, and grafting Management of Cranial Vault Dead Space Management of intracranial-aerodigestive communication Soft Tissue Management
- 38. Philosophy Regarding Timing of Intervention In attempting to limit functional impairment and also achieve long-term ideal facial aesthetics, an essential question the surgeon must ask is, “During the course of craniofacial development, does the operated-on facial skeletal of the child with CFD tend to grow abnormally, resulting in further distortions and dysmorphology or are the initial positive skeletal changes (achieved at operation) maintained during ongoing growth?” Unfortunately, the theory that craniofacial procedures carried out early in infancy will “unlock growth” has not been documented through the scientific method
- 39. Incision Placement For exposure of the craniofacial skeleton above the Le Fort I level, the approach used is the coronal (skin) incision. That allows for a relatively camouflaged access to the anterior and posterior cranial vault, orbits, nasal dorsum, zygomas, upper maxilla, pterygoid fossa, and temporomandibular joints. For added cosmetic advantage, placement of the coronal incision more posteriorly on the scalp and with postauricular rather than preauricular extensions is useful. When exposure of the maxilla at the Le Fort I level is required, a circumvestibular maxillary intraoral incision is used.
- 40. Subperiosteal dissection & osteotomies Dissection in a superiosteal plane with wide exposure to provide clear & direct visualization. Tessier’s original concept in dissection of pericranium and periorbita would allow all osteotomies ad reconstruction without interfering with ocular, oculomotor, palpebral, or lacrimal function.
- 41. Overcorrection, stabilization/fixation and grafting Relapse is an expected component of healing for patients Stabilization of reconstructed skeletal structures using bone plates and screws (titanium or resorbable) further promotes maintenance of the surgical result. Fresh, autogenous bone grafts should be used to fill all possible defects to promote healing and stability with open reconstructive procedures.
- 42. Management of Cranial Vault Dead Space Cranial reshaping in the CFD patient provides space for the compressed brain to expand into. Unfortunately, after anterior cranial vault expansion and monobloc advancement, an immediate extradural (retrofrontal) dead space is combined with the osteotomy-created gap across the skull base (connecting the anterior cranial fossa and the nasal cavity). This combination of factors may complicate the postoperative recovery (e.g., CSF leakage, infection, bone loss, fistula formation). In the CFD patient, relatively rapid (6–8 wk) filling of the surgically expanded intracranial volume by the previously compressed frontal lobes of the brain has been documented after cranio-orbital expansion in infants.
- 43. The use of fibrin glue to seal the anterior cranial base provides a temporary separation between the cavities, allowing time for the re-epithelialization (healing) of the torn nasal mucosa. To reconstruct the defect across the skull base, (gap) bone grafts of various types have also been used. Until the torn nasal mucosa heals, potential communication between the nasal cavity and the cranial fossa may result in the transfer of air, fluid, bacteria and nasocranial fistula formation. To facilitate nasal mucosa healing and limit a pressure gradient across the communication, postoperative endotracheal intubation may be extended for 3 to 5 days and/ or bilateral nasopharyngeal airways may be placed after extubation. The avoidance of positive-pressure ventilation, enforcement of sinus precautions, and restriction of nose blowing further limit reflux of air, fluid, and bacteria (nose to cranial fossa) during the early postoperative period.
- 44. Management of Intracranial-Aerodigestive Communication The management of any cranial base communication between the sterile intracranial compartment and the bacteria-rich aerodigestive tract when performing combined intracranial and extracranial surgery (monobloc advancement, facial bipartition, intracranial Le Fort III).
- 45. Soft Tissue Management A layered closure of the coronal incision (galea and skin) optimizes healing and limits scar widening. Resuspension of the midface periosteum to the temporalis fascia in a superior and posterior direction facilitates redraping of the soft tissues. Each lateral canthus should be adequately suspended or reattached in a superoposterior direction to the lateral orbital rim. The use of chromic gut for closure of the scalp skin in children may be used to obviate the need for postoperative suture or staple removal.
- 46. Algorithm of Care Infants and Toddlers (Birth to 4 Years) The Young Child (4 to 13 Years) The Adolescent (13+ Years)
- 47. SYNDROMES ASSOCIATED CRANIOSYNOSTOSIS CROUZAN’S SYNDROME APERT SYNDROME PFEIFFER’S SYNDROME CARPENTER’S SYNDROME SAETHRE-CHOTZEN SYNDROME
- 48. CROUZON’S SYNDROME Crouzon’s syndrome is a frequent form of CFD. It is characterized by multiple anomalies of the craniofacial skeleton with an autosomal dominant inheritance pattern. Approximately 4.8% of all craniosynostosis is due to Crouzon syndrome, which has an estimated prevalence of 1 in 60,000. Crouzon syndrome may be caused by either one of two different mutations. Ninety-five percent of cases are due to a mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on chromosome 10q25. A mutation in fibroblast growth factor receptor 3 leads to Crouzon syndrome with acanthosis nigricans characterized by less severe hearing loss, odontogenic tumors, and acanthosis nigricans
- 49. Characteristics Craniosynostosis Coronal suture fusion and relatively early sagittal and lambdoid suture fusion are the most common synostoses seen in Crouzon syndrome patients. Midface hypoplasia The extensive cranial suture fusion results in severe midface hypoplasia in all dimensions (transverse, vertical, and sagittal). This leads to the characteristic exorbitism, hypertelorism, pseudoprognathism, and trapezoid lips seen in both Apert and Crouzon syndromes.
- 50. Ocular abnormalities Impaired vision-overall 61% Ocular atrophy-7% to 16.7% Exposure keratopathy-4.2% Amblyopia-6.3% to 21% Ametropia-25% ocular complications can be greatly reduced with early Le Fort III advancement.
- 51. Musculoskeletal anomalies Cervical abnormalities are common and include butterfly vertebrae and posterior fusions. Raised intracranial pressure Elevated ICP is ubiquitous in patients with Crouzon syndrome and may occur at any age during the first 5 years of life. Overt papilledema is present in greater than 50% of this patient population. The presence of ICP in this patient population is multifactorial and includes craniocerebral disproportion, venous hypertension, upper airway obstruction, and hydrocephalus.
- 52. Obstructive sleep apnea Obstructive sleep apnea is common in Crouzon patients due to the common incidence of extreme midface hypoplasia. Obstructive sleep apnea leads to CO2 retention, which acts as a potent cerebral vasodilator, increasing blood flow to an intracranial system, which is likely already experiencing venous congestion and ventriculomegaly.
- 53. Neurological Abnormalities Acquired Chiari malformations (chronic tonsillar herniation) are present in 72.7% of Crouzon syndrome patients. This rate is significantly higher than that found in Apert syndrome (1.9% to 29%) patients. It is suggested that the reason lies in the increased incidence of premature fusion of the sagittal and lambdoid sutures found in Crouzon syndrome. This leads to a very small posterior fossa that is associated with an increased incidence of cerebellar tonsillar herniation (Chiari malformation).
- 54. Treatment Recommendations: Team Approach Surgical treatment Craniosynostosis Craniofacial synostosis release (usually bilateral coronal) between 6 to 12 months old; earlier may be necessary if turribrachycephaly is present. Midface deficiency Correction of midface deficiency using Le Fort III advancement by distraction osteogenesis during childhood (5 to 9 years old) as late as possible but dependent on excessive exorbitism, psychological, and obstructive sleep apnea needs Orthognathic Definitive orthognathic surgery at skeletal maturity (14 to 16 years old, female; 18 to 20 years old, male)
- 55. Monitoring Imaging Follow child with yearly magnetic resonance imaging (MRI) and magnetic resonance venography CT head scan prior to cranial vault surgery Medical Proton pump inhibitor until 2 years old Polysomnography yearly into adulthood
- 56. Hearing Audiology evaluation Auditory brainstem response (ABR) testing is recommended in the syndromic synostosis population Regular ear, nose, and throat (ENT) visits Evaluation of hearing loss Ophthalmologic exam Managing amblyopia Twice yearly cycloplegic refraction Managing potential visual pathway dysfunction Visual evoked potentials to monitor for visual pathway dysfunction, which indirectly monitors changes in ICP Funduscopy for optic disc visualization and monitoring Managing the cornea Regular evaluation with fluorescein staining monitoring for neovascularization (sign of chronic exposure) Especially important after craniofacial surgery Consider lateral tarsorrhaphy with midface advancement and hourly lubricant to the eye
- 57. Early pediatric dentistry and orthodontic intervention Maintaining and restoring health of dentition, as well as alleviating dental crowding Preparation for surgical orthodontics Speech therapy Start at 1 year old Psychological Yearly assessment of general development Genetic counseling
- 58. Primary Cranio-orbital Decompression: Reshaping in Infancy The initial treatment for Crouzon’s syndrome generally requires bilateral coronal suture release and simultaneous anterior cranial vault and upper orbital osteotomies with reshaping and advancement. Our preference is to carry this out when the child is 9 to 11 months of age unless clear signs of increased ICP are identified earlier in life.
- 59. Repeat Craniotomy for Additional Cranial Vault Expansion and Reshaping in Young Children The “repeat” craniotomy carried out for further decompression and reshaping in the child with Crouzon’s syndrome is often complicated by brittle cortical bone (which lacks a diploic space and contains sharp spicules piercing the dura), the presence of previously placed fixation devices in the operative field (e.g., Silastic sheeting, metal clips, stainless steel wires, plates, and screws), and convoluted thin dura compressed against (or herniated into) the inner table of the skull.
- 60. Management of “Total Midface” Deformity in Childhood The type of osteotomies selected to manage the “total midface” deficiency or deformity and residual cranial vault dysplasia should depend on the extent and location of the presenting dysmorphology rather than on a fixed approach to the midface malformation. The selection of a monobloc (with or without additional orbital segmentation), facial bipartition (with or without additional orbital segmental osteotomies), or Le Fort III osteotomy to manage the basic horizontal, transverse, vertical orbital, and upper midface deficiencies or deformities in a patient with Crouzon’s syndrome depends on the patient’s presenting midface and anterior cranial vault morphology.
- 61. Lateral skull radiograph with “fingerprinting” indicates longstanding increased ICP
- 62. Orthognathic Procedures for Definitive Occlusal and Lower Facial Aesthetic Reconstruction An Angle class III malocclusion, resulting from maxillary retrusion, with anterior open bite often results. A Le Fort I osteotomy to allow for horizontal advancement, transverse widening, and vertical adjustment is generally required in combination with an osteoplastic genioplasty (vertical reduction and horizontal advancement) to further correct the lower face deformity. Secondary deformities of the mandible should be simultaneously corrected through sagittal split ramus osteotomies. The elective orthognathic surgery is carried out in conjunction with orthodontic treatment planned for completion at the time of early skeletal maturity (~13–15 yr in girls and 15– 17 yr in boys)
- 63. Apert Syndrome Apert syndrome occurs in 1 in 65,000 to 150,000 live births Generally, a more severe craniofacial dysmorphology is observed in Apert syndrome when compared to Crouzon. Autosomal dominant inheritance with variable penetrance is common among the craniosynostosis syndromes. Apert syndrome is due to a mutation in the gene for fibroblast growth factor receptor 2 (FGFR2) on chromosome 10q.
- 64. Characteristics four-limb complex syndactly of the hands and feet. Fusion and malformation of other joints, including the elbows and shoulders, often occur. In Apert’s syndrome, fused cervical vertebrae (68%), usually C5–6 can occur. Hydrocephalus is less frequent than in Crouzon’s syndrome (2% vs. 10%). The integument (soft tissue envelope) also varies from that in Crouzon’s syndrome, with a greater downward slant to the lateral canthi and a distinctive, S-shaped upper eyelid ptosis. The quality of the skin often varies from normal with acne and hyperhidrosis being prominent features.
- 65. Treatment Recommendations: Team Approach Surgical treatment Craniosynostosis Craniofacial synostosis release (usually bilateral coronal) between the ages of 6 to 12 months old. Midface deficiency Correction of midface deficiency using Le Fort III advancement during childhood (5 to 9 years old) as late as possible but dependent on psychological and obstructive sleep apnea needs. The Le Fort III is preferably advanced using distraction osteogenesis. Cleft palate repair may be delayed due to obstructive sleep apnea concerns—without concern for development of velopharyngeal insufficiency. Orthognathic Definitive orthognathic surgery at skeletal maturity (14 to 16 years old, female; 18 to 20 years old, male). Orthopedic Syndactyly repair, generally in two stages (1 to 5 years old).
- 66. Primary Cranio-orbital Decompression: Reshaping in Infancy The initial craniofacial procedure for Apert’s syndrome generally requires bilateral coronal suture release and anterior cranial vault and upper three-quarter orbital osteotomies to expand the anterior cranial vault and reshape the upper orbits and forehead. Our preference is to carry this out when the child is 9 to 11 months of age, unless signs of increased ICP are identified earlier in life.
- 67. orbital osteotomy unit before reshaping orbital osteotomy unit after reshaping. cranial base before surgery anterior interorbital distance diminished from 29 to 25 mm,
- 68. Further Craniotomy for Additional Cranial Vault Expansion and Reshaping in Young Children after the initial suture release, decompression, and reshaping carried out during infancy, the child is observed clinically at intervals by the craniofacial surgeon, pediatric neurosurgeon, pediatric ophthalmologist, and developmental pediatrician and undergoes interval CT scanning. Should signs of increased ICP develop, further decompression with reshaping of the cranial vault to expand the intracranial volume is performed. In Apert’s syndrome, the posterior cranial vault more commonly requires expansion.
- 69. child born with Apert’s syndrome underwent bilateral “lateral canthal advancement” procedures when she was 6 weeks of age, carried out by the neurosurgeon working independently. At 18 months of age, she returned with turricephaly and a constricted anterior cranial vault requiring further cranio-orbital decompression and reshaping. At 5 years of age, she underwent anterior cranial vault and facial bipartition osteotomies withreshaping. As part of her staged reconstruction, she will require orthognathic surgery and orthodontic treatment planned for the teenage years
- 70. at 8 months of age after a lateral canthal advancement procedure with residual deformity Midorbits indicates dystopia, hypertelorism, and proptosis views of the cranio-orbital region after three quarter orbital osteotomies and reshaping and anterior advancement
- 71. Craniofacial morphology with planned and completed osteotomies and reconstruction. upper orbits after osteotomies with reshaping.
- 72. Management of the “Total Midface” Deformity in Childhood In Apert’s syndrome, for almost all patients, facial bipartition osteotomies combined with further cranial vault reshaping permit a more complete correction of the abnormal craniofacial skeleton than can be achieved through other midface procedure options (i.e., monobloc or Le Fort III osteotomies). When using the facial bipartition approach, a more normal arc of rotation of the midface complex is achieved with the midline split. This further reduces the stigmata of the preoperative “flat, wide, and retrusive” facial appearance.
- 73. CT scan views through the midorbits before and after reconstruction indication correction of orbital hyperteleorism and proptosis
- 75. Orthognathic Procedures for Definitive Occlusal and Lower Facial Aesthetic Reconstruction The mandible has normal basic growth potential in Apert’s syndrome. The extent of maxillary hypoplasia will result in an Angle class III malocclusion with severe anterior openbite deformity. A Le Fort I osteotomy is required to allow for horizontal advancement, transverse widening, and vertical adjustment in combination with an osteoplastic genioplasty to vertically reduce and horizontally advance the chin, often combined with bilateral sagittal split osteotomies of the mandible. The elective orthognathic surgery is carried out in conjunction with detailed orthodontic treatment planned for completion at the time of early skeletal maturity (~13–15 yr in girls and 15–17 yr in boys).
- 76. Pfeiffer Syndrome Pfeiffer syndrome occurs in 1 in 100,000 live births It is unique among the FGFR related syndromes in that it has been separated into three clinical categories. Type I is the most common (61%) and is associated with FGFR1 or FGFR2 mutations. It is consistent with a mild presentation, normal neurologic and intellectual development, and good outcomes. Presentations of Types II (25%) and III (14%) are sporadic, severe, and associated with a mutation in the FGFR2 gene only. Types II and III are associated with developmental delay, chronic tonsillar herniation, respiratory problems, and high mortality rates (25% to 85%)
- 77. Etiology Autosomal dominant inheritance with high penetrance The majority (95%) of Pfeiffer syndrome is caused by a mutation in FGFR2 (chromosome 10q26) with the remaining 5% attributable to a mutation in FGFR1 (chromosome 8p11.2- p11)
- 78. Pfeiffer Syndrome Presentations Type I: “Classic” Pfeiffer Syndrome Craniosynostosis-coronal Neurologic Hydrocephalus may occur Conductive hearing loss may occur Chiari malformation may occur Developmental Normal intelligence Musculoskeletal Syndactyly variable, brachydactyly common Broad thumbs and great toes Midface deficiency Hypoplastic midface with relative mandibular prognathism Exorbitism—due to shallow orbits
- 79. Type II: Cloverleaf Skull Pfeiffer Syndrome Severe craniosynostosis-“cloverleaf/kleeblattschädel skull” Can commonly can cause limited brain growth and mental retardation Neurologic Hydrocephalus and conductive hearing loss common Chiari malformation 100% Developmental delay No delay to severe delay possible Musculoskeletal Broad thumbs and great toes Elbow ankylosis or synostosis Midface deficiency Hypoplastic midface with relative mandibular prognathism Extreme exorbitism Cleft palate may be present Obstructive sleep apnea and airway abnormalities Obstructive sleep apnea and central sleep apnea common Tracheal abnormalities including: tracheal sleeve and tracheal stenosis
- 80. Type III: Severe Pfeiffer Syndrome without Cloverleaf Skull Deformity These individuals have similar features to Type II Pfeiffer syndrome; however, they do not have the cloverleaf skull External auditory canal atresia 100%
- 81. Treatment Recommendations: Team Approach Surgical treatment Caveats for Pfeiffer syndrome Types II and III Tracheostomy placement in all Type II and III patients Preemptive tarsorrhaphy If bilateral auditory canal atresia, consider bone- anchored hearing aid (BAHA) placement-ideally after all posterior vault remodeling has been performed Craniosynostosis Early, 2 to 4 months old, primary cranioplasty for surgical decompression followed by additional cranial vault procedure between 13 to 18 months old, with posterior enlargement of foramen magnum if indicated. Orthognathic Definitive orthognathic surgery at skeletal maturity (14 to 16 years old, female; 18 to 20 years old, male)
- 82. MUENKE SYNDROME It is characterized by bilateral or less commonly unilateral coronal suture synostosis with broad great toes, brachydactyly, or clinoductyly. Mutation in FGFR3 gene Autosomal dominant Mild facial hypoplasia, mild ptosis, high arched palate. Mild to moderate sensorineural hearing loss common
- 83. Treatment Recommendations: Team Approach Surgical treatment Craniosynostosis Craniofacial synostosis release (usually unilateral or bilateral coronal) between 6 to 12 months old Monitoring Imaging Follow child with MRI and magnetic resonance venography every year CT head prior to cranial vault surgery
- 84. CARPENTER’S SYNDROME Carpenter’s syndrome is characterized by craniosynostosis often associated with preaxial polysyndactyly of the feet, short fingers with clinodactyly, and variable soft tissue syndactyly, sometimes postaxial polydactyly, and other anomalies such as congenital heart defects, short stature, obesity, and mental deficiency. It was first described by Carpenter in 1901 and was later recognized to be an autosomal recessive syndrome.
- 85. SAETHRE-CHOTZEN SYNDROME Saethre-Chotzen syndrome has an autosomal dominant inheritance pattern with a high degree of penetrance and expressivity. Its pattern of malformations may include craniosynostosis, low-set frontal hairline, ptosis of the upper eyelids, facial asymmetry, brachydactyly, partial cutaneous syndactyly, and other skeletal anomalies. As part of the reconstruction, cranio- orbital reshaping will almost certainly be required and is similar to that described for Crouzon’s syndrome.
- 86. Jackson-Weiss Syndrome Jackson-Weiss syndrome results from multiple mutations in FGFR2. It is clinically characterized by coronal synostosis; midface hypoplasia; exorbitism; hypertelorism; tarsal and metatarsal fusion; and short, broad, and medially deviated great toes. Hearing loss is present in 68% of patients. Of the patients with hearing loss, 53% is conductive, 20% is mixed, and 26% is sensorineural.
- 87. Beare-Stevenson Syndrome Beare-Stevenson syndrome is a rare craniofacial syndrome also associated with mutation in the FGFR2 signaling pathway. It is clinically characterized by cutis gyrate (furrowed skin), acanthosis nigricans, severe craniosynostosis, severe developmental impairments, umbilical and anogenital anomalies, and early mortality. Death commonly occurs in infancy with the longest survivor of the syndrome being only 4 years old
- 88. Antley-Bixler Syndrome Antley-Bixler syndrome is an extremely rare craniosynostosis syndrome, resulting from a mutation in one of two genes: P450 oxidoreductase gene or FGFR2 (S351C) characterized by bicoronal craniosynostosis (rarely lambdoid and metopic) and radiohumeral synostosis. Commonly there may be midface hypoplasia, choanal stenosis/ atresia, multiple joint contractures, hydrocephalus, Chiari malformation, obstructive sleep apnea, cervical spine fusions, and visceral anomalies.
- 89. Mortality may be as high as 80% in the neonatal period, but it improves dramatically with age. Management is similar to that of a Type II or III Pfeiffer syndrome patient and should be targeted initially at lifesaving therapies, such as early tracheostomy or nasal stenting for choanal atresia, cranial vault reshaping for elevated ICP, and ventriculoperitoneal shunts for hydrocephalus
- 91. DEFORMITIES ASSOCIATED WITH ABNORMALITIES OF THE FIRST AND SECOND BRANCHIAL ARCHES Treacher Collins Syndrome (Franceschetti-Zwahlen-Klein Syndrome) Hemifacial Microsomia(facio-auriculo-vertebral spectrum, first and second branchial arch syndrome, oculoauriculo- vertebral syndrome, and oculo-auriculo-vertebral dysplasia)
- 92. Treacher Collins Syndrome Treacher Collins syndrome is the most common mandibulofacial dysostosis and occurs in approximately 1 in 25,000 to 50,000 births. It equally affects both sexes, is frequently familial (40%), and is commonly transferred in an autosomal dominant pattern.
- 93. Pathogenesis Treacher Collins syndrome are involved in pre- rRNA transcription. It is hypothesized that the loss of these essential cellular proteins results in apoptosis of cells involved in neural crest cell migration to the first and second branchial arches during the fifth to eighth weeks of gestation, leading to the characteristic deformities seen in individuals with Treacher Collins syndrome. The majority of affected individuals (81% to 93%) carry a mutation in the TCOF1 gene located on 5q32-q33.
- 94. Characteristics of Treacher Collins Patients
- 96. Staging of Craniofacial Reconstruction Initial consultation When the deformity is severe, the craniofacial treatment team is commonly consulted immediately to evaluate airway patency.
- 97. Classification of Temporomandibular Joint and Mandibular Malformation
- 99. Cleft palate If a cleft palate is present, repair may be performed at the standard time, 10 to 18 months old. if airway concerns are also present, a delayed repair is advised. Zygomatic and malar reconstruction Definitive reconstruction of the zygomatico-malar region is best delayed until after the age of 7, which is when cranio-orbito-zygomatic maturation is near complete. At this time, adult sized malar prominences may be constructed without concern of future growth. This can be done using bicortical calvarial bone grafts or alternatively with the use of alloplastic implants.
- 101. Ear and hearing rehabilitation and reconstruction Hearing rehabilitation should begin at the earliest age possible. Bone-anchored hearing aid (BAHA) consists of a permanent titanium fixture that is surgically implanted into the skull bone behind the ear and a small detachable sound processor that clips onto the fixture. BAHAs are suitable for people with conductive or mixed hearing loss who cannot adequately benefit from or prefer not to use conventional hearing aids. Once the patient is older than 3 years old, a BAHA is recommended. Functional atresiaplasty is not currently recommended due to the significant postoperative residual hearing deficit and high complication rate External ear reconstruction may commence when the child reaches the age of 6. At this time, the synchondrotic region of ribs 6 and 7 provides a sufficient amount of cartilage for reconstruction. Approximately four to five surgeries are necessary to reconstruct the external ear.
- 102. Ophthalmologic intervention Lateral tarsorrhaphy or lower lid skin grafts may be necessary to provide adequate corneal coverage in the perinatal period. In order to minimize vision loss, amblyopia and the correction of refractive errors is aggressively treated prior to surgical correction of motility problems. Strabismus surgery may proceed upon diagnosis. Colobomas and pseudocolobomas are treated surgically, and timing is dependent on the deformity and the presence of corneal exposure.
- 103. Maxillomandibular reconstruction There are three different times when the mandible may need to be addressed. In infancy, if the patient has a significant mandibular deformity resulting in the inability to maintain the airway, it is necessary to perform a tracheostomy and/or mandibular distraction. In early childhood (between 6 to 12 years old), the extent of the mandibular deformity dictates the treatment needed. If the child has a significant deformity resulting in a compromised temporomandibular joint apparatus, costochondral grafts are likely necessary. Orthognathic surgery is almost universally needed once the patient reaches skeletal maturity (between 13 to 18 years old).
- 104. Nasal reconstruction and orbital rim secondary reconstruction Treacher Collins patients consistently have increased width and a mid-dorsal hump. Definitive rhinoplasty is best performed after orthognathic surgery. Persistent deficiency of the orbital rims may be best treated with alloplastic reconstruction. Soft tissue refinements If the patient has significant temporal hollowing, these areas may be addressed simultaneously with orthognathic surgery or during the rhinoplasty procedure.
- 105. HEMIFACIAL MICROSOMIA Hemifacial microsomia (HFM) is an asymmetric craniofacial malformation, variably affecting structures derived from the first and second pharyngeal arches. It is characterized by structural abnormalities of the orbit, maxilla, mandible, external and middle ear, cranial nerves, and facial soft tissues. HFM is the second most common craniofacial anomaly after cleft lip and palate. the most frequently reported incidence is 1 in 5600 live births
- 106. PATHOGENESIS The mechanism by which HFM develops in humans is unknown. Two pathogenic theories exist, one involving the vascular system and the other neuroectodermal cell migration. The “stapedial artery hematoma” theory was proposed by Poswillo in 1973. Hemorrhage from the developing stapedial artery produced a hematoma in the region of the first and second pharyngeal arches. The size of the hematoma and resultant tissue destruction determined the extent and variability of the deformity. This explanation may be applicable to humans, because it provides an adequate explanation for the variability of HFM. The “alteration in neural crest cell migration theory” is based on the work of Johnson and Bronsky.
- 107. Modified O.M.E.N.S (+) Classification of Hemifacial Microsomia
- 109. Approach to Treatment of Oculoauriculovertebral Spectrum Deformity Typical Age of Reconstruction Cleft lip- 3 months or later Cleft palate- 9-14 months Cranio-orbital asymmetry- 2-5 years or later Oribital hypoplasia/ microphthalmia- 5 years or later Zygomatic hypoplasia - 5 years or later Kaban type III TMJ (atretic TMJ/ramus)- 5 years or later Maxillomandibular asymmetry- 14-16 years or later in females & 16-18 years or later in males Soft tissue deficiency, lateral face- After orthognathic procedures External ear - 5 years of age or later
- 110. CONCLUSION The preferred approach to the management of a patient with syndromic craniosynostosis is to stage reconstruction based on craniofacial growth patterns, functional demands (cognition, vision, breathing, swallowing, speech, chewing, hearing), and psychosocial effects. Resultant deformities of the cranio-orbital tissues, zygoma, ear, lip, palate, maxilla, mandible, and airway require a thoughtful staged reconstruction that is interdisciplinary.
- 111. THANK YOU