Craniofacial Flashcards
Which of the following synostoses is most predictably treated with endoscopic suturectomy and postoperative orthotic molding? A)Coronal B) Lambdoidal C) Metopic D) Sagittal E) Squamosal
D) Sagittal
What synostosis is most predictably treated with endoscopic suturectomy and postoperative orthotic molding?
Sagittal
Ideal time frame for endoscopic treatment of sagittal suturectomy
The ideal time frame is between 2 to 4 months of age.
Treatment of squamosal synostosis
Squamosal synostosis generally does not require surgical intervention
A 3-day-old female newborn is in the neonatal intensive care unit because of airway obstruction, micrognathia, glossoptosis, and cleft palate. Placement of the patient in the prone position has failed to stabilize the airway. Which of the following is the most appropriate immediate next step in management? A) Endotracheal intubation B) Mandibular distraction C) Tongue-lip adhesion D) Tracheostomy
A) Endotracheal intubation
Pierre Robin sequence
The Pierre Robin sequence consists of micrognathia or retrognathia, glossoptosis, and airway obstruction (with or without cleft palate). Cleft palate isa frequently associated feature, but not cleft lip. There is little evidence of genetic transmissions. The retrognathia is believed to contribute to the glossoptosis, which in turn produces the airway obstruction.
Initial management of Pierre Robin airway
Initial management is conservative. Pronepositioning is the mainstay of initial airway management. Upright feedings, the use of nasogastric tubes, and endotracheal intubation may assist with the early management of the child
Before undertaking any operative intervention designed to address the glossoptosis of Pierre Robin, what should be done?
Before undertaking any operative intervention designed to address the glossoptosis, such as mandibular distraction or tongue-lip adhesion, a nasoendoscopy is recommended. This is performed to rule out other anatomical sites or causes of airway obstruction.
Reasonable first line surgical treatment for airway obstruction arising only from glossoptosis
For airway obstruction arising only from glossoptosis, a tongue-lip adhesion is a reasonable first treatment option. This procedure is most effective in infants with good prospects for mandibular growth early in infancy (ie, Stickler syndrome, velocardiofacial syndrome, nonsyndromic patients).
When to consider mandibular distraction first for glossoptosis
In some syndromes with poor mandibular growth potential, such as Treacher Collins syndrome or facial microsomia, or when the degree of mandibular hypoplasia or retrusion is particularly severe, mandibular distraction may provide a more effective management option.
A 6-week-old female infant is brought to the office for evaluation of a skull deformity that makes them look like a cupie doll. Physical examination shows the absence of calvarial bone in multiple areas of the cranium. CT scan confirms a kleeblattschädel skull deformity. Which of the following is the most likely indication for surgical intervention at this time? A)Airway compromise B) Hydrocephalus C) Increased intracranial pressure D) Loss of vision E) Orbital exposure
C) Increased intracranial pressure
The kleeblattschädel skull deformity occurs secondary to multiple suture synostoses. This results in a significant increase in intracranial pressure that causes the skull deformity shown in the CT scan. The increase in intracranial pressure produces a moth-eaten appearance and is the reason for early surgical intervention.
Kleeblattschädel skull deformity
The kleeblattschädel skull deformity occurs secondary to multiple suture synostoses. This results in a significant increase in intracranial pressure that causes the skull deformity shown in the CT scan. The increase in intracranial pressure produces a moth-eaten appearance and is a reason for early surgical intervention.
Moth eaten appearance of a skull
An increase in intracranial pressure produces a moth-eaten appearance and is a reason for early surgical intervention.
A 6-year-old boy is brought to the office because of persistent hypernasal speech. He has a history of cardiac anomalies and learning difficulties. Physical examination shows a broad nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess. Intraoral examination shows a bifid uvula and a palpable notch of the posterior nasal spine. Which of the following imaging studies is most appropriate prior to surgical intervention? A)Carotid angiography B) MRA of the head and neck C) PET scan of the brain D) Renal ultrasonography
B) MRA of the head and neck
The patient described appears to have velocardiofacial syndrome, an autosomal dominant condition caused by a deletion of the long arm of chromosome 22. Manifestations of velocardiofacial syndrome include cleft palate, velopharyngeal insufficiency, and cardiac abnormalities
Velocardiofacial syndrome general overview
The patient described appears to have velocardiofacial syndrome, an autosomal dominant condition caused by a deletion of the long arm of chromosome 22. Manifestations of velocardiofacial syndrome include cleft palate, velopharyngeal insufficiency, and cardiac abnormalities
MRA is the diagnostic study of choice for detecting abnormalities of the carotid vasculature, notably medialization, which may complicate palatal or pharyngeal surgery.
While carotid angiography would yield similar information, it is too invasive.
Abnormal features associated with velocardiofacial syndrome
Abnormal facial features associated with this syndrome include a broad, prominent nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess.
Important preoperative testing for velocardiofacial syndrome
MRA is the diagnostic study of choice for detecting abnormalities of the carotid vasculature, notably medialization, which may complicate palatal or pharyngeal surgery.
A 16-year-old girl is brought to the office for consultation regarding reconstruction to correct hemifacial atrophy. The parents first noticed the condition when the patient was 6 years old; it has been stable for 18 months. Physical examination shows an asymmetric face with atrophy of the right side. There is significant unilateral atrophy of skin, subcutaneous tissue, and bone. Facial reconstruction is planned. Which of the following is the most appropriate method of reconstruction? A) Latissimus dorsi free flap B) Omental free flap C) Osteocutaneous fibula flap D) Parascapular free flap E) Silicone injection
D) Parascapular free flap
Muscle and myocutaneous flaps are not ideal, as they can be too bulky, and the eventual muscle atrophy leads to unpredictable long-term results. Omental flaps for facial recontouring have been described, but they have several drawbacks. These include the need for an intra-abdominal harvest and the difficulty in long-term flap fixation, with eventual descent given the absence of dermal or fascial components to be used in fixation. The parascapular flap provides a versatile source of composite tissue that remains relatively stable as it matures, and it provides tissue components for appropriate fixation.
Appropriateness of parascapular free flap for Romberg disease
The parascapular flap provides a versatile source of composite tissue that remains relatively stable as it matures, and it provides tissue components for appropriate fixation.
Drawbacks of omental flaps for facial recontouring
Omental flaps for facial recontouring have been described, but they have several drawbacks. These include the need for an intra-abdominal harvest and the difficulty in long-term flap fixation, with eventual descent given the absence of dermal or fascial components to be used in fixation.
Muscle and myocutaneous flaps for facial recontouring
Muscle and myocutaneous flaps are not ideal, as they can be too bulky, and the eventual muscle atrophy leads to unpredictable long-term results.
A 3-year-old boy is brought to the office because of a congenital soft tissue notch of the lower lateral eyelid. Which of the following is the most appropriate Tessier classification for the underlying craniofacial cleft? A) Tessier No. 3 B) Tessier No. 4 C) Tessier No. 6 D) Tessier No. 10
C) Tessier No. 6
Tessier No. 3
The Tessier No. 3 cleft defect symptoms include a defect between the lateral incisors and canine. This cleft typically involves the alar base and medial canthal region. In severe cases, the cleft may enter the orbit medial to the punctum.
Tessier No. 4
Tessier No. 4 facial clefts extend from the upper lip, around the alar base, along the nasomaxillary junction, and across the tear duct and medial orbital tissues.
Tessier No. 6
Tessier No. 6 facial clefts may disrupt bone and soft tissues along the lower lateral orbit. These defects are frequently associated with colobomas of the lower eyelid.
Tessier No. 10
Extending into the frontal bone, Tessier No. 10 clefts involve the superior orbital rim and medial third of the orbit. Proptosis with fronto-orbital encephalocele may be present with significant clefts at this location.
Tessier No. 7
No. 7 clefts may produce macrostomia and extend through the lateral zygomatic arch.
A 40-year-old Caucasian woman comes to the office for consultation because she is dissatisfied with the appearance of her smile. Physical examination shows bilabial incompetence, malocclusion, a retrusive chin, and a gummy smile. Cephalometric analysis shows decreased SNA and SNB angles. Which of the following is the most likely diagnosis? A) Mandibular deficiency B) Mandibular excess C) Maxillary retrusion D) Vertical maxillary deficiency E) Vertical maxillary excess
E) Vertical maxillary excess
Long-face deformity (vertical maxillary excess) is characterized by an increase in the lower third of the face. A gummy smile is associated with this deformity. The mid facial appearance is flattened. Although all types of Angle occlusion patterns are possible, type II is most common.
Long-face deformity
Long-face deformity (vertical maxillary excess) is characterized by an increase in the lower third of the face. A gummy smile is associated with this deformity. The mid facial appearance is flattened. Although all types of Angle occlusion patterns are possible, type II is most common.
Maxillary retrusion
Maxillary retrusion is associated with maxillary hypoplasia and often a shortening of the lower vertical facial height. Angle class III malocclusion is seen with this deformity, and cephalometric analysis shows a decreased SNA angle but an increased SNB angle.
Vertical maxillary deficiency
Vertical maxillary deficiency, although often associated with Angle class II malocclusion, results in shortening of the lower third of the face, and the teeth are not seen in repose. SNA and SNB angles are frequently increased in this deformity
Which of the following syndromes is most commonly associated with Pierre Robin sequence? A) Beckwith-Wiedemann B) Facial microsomia C) Stickler D) Treacher Collins E) Velocardiofacial
C) Stickler
Developmental sequence
A pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor.
Underdevelopment of the mandible in Pierre Robin sequence
The underdeveloped (micrognathia) or retropositioned (retrognathia) mandible limits space for the growing tongue and forces it to assume a posterior/elevated position in the oropharynx (glossoptosis). This leads to delayed elevation/fusion of the palatal shelves (cleft palate) and respiratory distress.The mandibular anomaly in Pierre Robin sequence is causally heterogeneous and can result from either a malformation (eg, Stickler syndrome), a disruption (eg, amniotic band syndrome), or deformation (eg, oligohydramnios).
Stickler syndrome
Over 40% of Pierre Robin sequence patients are Stickler.
It is caused by one of three collagen mutations (type II, COL2A1 is the most common) Stickler patients have wide phenotypic variability that often results in delayed or missed diagnosis in minor cases. Clinical findings associated with Stickler syndrome are ocular problems (retinal detachment, myopia, and blindness), facial abnormalities (flat nose, small mandible, or cleft palate), hearing loss, and degenerative joint disease and pain.
A 2-month-old male infant is brought to the office because of mid face hypoplasia, craniosynostosis, and bilateral hand and foot anomalies. A photograph of the left foot is shown. This patient most likely has which of the following syndromes? A) Apert B) Crouzon C) Goldenhar D) Nager E) Treacher Collins
A) Apert
This autosomal dominant syndrome is characterized by bicoronal craniosynostosis that leads to turribrachycephaly, mid face hypoplasia, and complex hand and feet syndactyly.
Heredity of Apert syndrome
Autosomal dominant
Apert syndrome overview
This autosomal dominant syndrome is characterized by bicoronal craniosynostosis that leads to turribrachycephaly, mid face hypoplasia, and complex hand and feet syndactyly.
Heredity of Crouzon syndrome
Autosomal dominant
Crouzon syndrome overview
Patients with Crouzon syndrome, an autosomal dominant disorder, typically have craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. Other findings includemid face hypoplasia, exorbitism, and proptosis. The extremities are normal.
Goldenhar syndrome overview
Goldenhar syndrome, or oculoauriculovertebral dysplasia, involves asymmetry of the hard and soft tissues of the face. This condition is most commonly unilateral but may be seen bilaterally in some patients. Manifestations of this syndrome include hypoplasia involving the mandible and underlying soft tissues of the face, epibulbar dermoids, and varied degrees of microtia on the affected side. Most patients have associated vertebral abnormalities.
Nager syndrome overview
Nager syndrome, or acrofacial dysostosis, is an autosomal recessive disorder characterized by craniofacial and upper extremity abnormalities. Patients with Nager syndrome have hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Auricular defects may also be present. Hypoplasia or agenesis occurs in the radius, thumbs, and metacarpals. Some patients may have radioulnar synostosis and elbow joint deformities.
*can also have mental retardation
Heredity of Nager syndrome
Autosomal recessive
Treacher Collins syndrome
Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.
Treacher Collins syndrome heredity
Autosomal dominant w/ variable penetrance
Goldenhar syndrome heredity
Unknown
A 38-year-old man comes to the office because of facial asymmetry and pain in the left mid face. The pain began 3 years ago. Physical examination shows atrophy of the temporal and mid facial soft tissue and bone. A photograph is shown w/ hemifacial atrophy. Which of the following is the most likely diagnosis? A) Bell palsy B) Hemifacial microsomia C) Parry-Romberg syndrome D) Torticollis E) Treacher Collins syndrome
C) Parry-Romberg syndrome
When does Parry-Romberg syndrome usually onset?
It typically appears between the ages of 5 and 15 years.
Possible skin changes of Parry-Romberg syndrome
Overlying skin can become hyperpigmented
Where does Parry-Romberg syndrome usually begin?
Facial atrophy usually begins in the temporal and/or nasolabial fold region and progresses to involve the mouth, the area around the eye, and the brow.
End point of Parry-Romberg syndrome
The atrophy may progress slowly and plateau, or it may progress indefinitely. Many patients go on to develop atrophy of half of the upper lip and tongue and exposure or damage to the roots of teeth on the affected side.
Bell palsy
Bell palsy is a mononeuropathy involving cranial nerve VII and the facial nerve; it results in unilateral facial nerve paralysis. It is not usually self-limiting but may result in residual weakness in rare cases.
Hemifacial microsomia
Hemifacial microsomia is a congenital anomaly involving an underdevelopment of either one or both sides of the face. It more commonly affects the lower half of the face, resulting in mandibular hypoplasia, microtia, and vestigial remnants. Hemifacial microsomia is the second most common facial congenital deformity, after cleft lip and palate
Two most common congenital facial defects
Cleft lip / Palate, followed by hemifacial microsomia
Torticollis
Torticollis involves tightness of the sternocleidomastoid muscle of the neck resulting in a head tilt toward the affected muscle. Patients may have a mild underdevelopment of the lower half of the face on the affected side secondary to deformational pressure. Torticollis is generally congenital, thought to be secondary to intrauterine positioning, and is treated with physical therapy
A 12-month-old boy is referred by his pediatrician for possible craniosynostosis. He is healthy and has achieved developmental milestones appropriately. His parents report that he has a ridge on his forehead that they first noticed when he was 3 months of age. Physical examination shows a palpable midline ridge with normal facial contour. CT scans obtained by his pediatrician are shown. Which of the following is the most appropriate management?
A ) Diagnostic plain x-ray studies
B ) Endoscopic strip craniectomy and postoperative helmet therapy
C ) Fronto-orbital advancement
D ) Serologic testing for mutations of fibroblast growth factor receptors 1, 2, and 3
E ) Observation
E ) Observation
When does the metric suture fuse?
The metopic suture is different because unlike other calvarial sutures that ultimately fuse in the third decade of life, it normallycloses before 12 months of age
Presence of an isolated metopic ridge
Normal variant
What determines the need for operative intervention for metopic suture fusion?
A metopic ridge is a normal variant. It is the shape of the fronto-orbital region that determines the need for operative intervention (trigonocephally)
What is the latest age where endoscopic strip craniotomy is effective?
Endoscopic strip craniectomy is generally not effective after 3 months of age
An 11-year-old boy is brought to the office because of a 1-year history of progressive left-sided hemifacial atrophy. He has the classic coup de sabre appearance. Examination shows facial bony structures that are intact. Which of the following imaging studies is most appropriate to include in a diagnostic workup of this patient? A ) MRI of the abdomen B ) MRI of the brain C ) Plain x-ray study of the chest D ) Plain x-ray studies of the hands
B ) MRI of the brain
Coup de sabre appearance
A curved, sharply demarcated, depressed and hyperpigmented linear groove seen on the frontoparietal scalp in progressive left-sided hemifacial atrophy
Neurologic associations with Parry-Romberg syndrome
Neurologic symptoms are commonly associated with PRS, includingseizures, migraine, Horner syndrome, and hemiplegia. Various ophthalmologic conditions are also common. Abnormalities are frequently seen on MRI of the brain, even in the absence of neurologic symptoms, and therefore MRI of the brain is indicated such that these abnormalities might be investigated further as needed.
Original description of progressive hemifacial atrophy
first described in 1825 by Parry and then in 1846 by Romberg.
A 4-year-old girl is brought to the office for evaluation of hemifacial microsomia. Physical examination shows maxillary hypoplasia, orbital dystopia, and complete absence of the mandibular condyle. The presence of which of the following additional findings is most suggestive of Goldenhar syndrome? A ) Epibulbar dermoids B ) Facial nerve VII impairment C ) Midfacial port-wine stain D ) Multiple pits of the lower lip E ) Upper eyelid colobomas
A ) Epibulbar dermoids
The presence of epibulbar dermoids is a key clinical finding that distinguishes Goldenhar syndrome from hemifacial microsomia. Although Goldenhar syndrome is also frequently associated with defects of cranial nerve VII, this finding is also commonly described in other craniofacial anomalies, including hemifacial microsomia.
What distinguishes Goldenhar syndrome from hemifacial microsomia?
Epibulbar dermoids
Port-wine stain present within the V1 or V2 distribution
A port-wine stain present within the V1 or V2 distribution is suggestive of potential Sturge-Weber syndrome
Van der Woude syndrome is commonly associated with:
Van der Woude syndrome is commonly associated with lower lip pits (from accessory salivary glands) as well as cleft lip/palate
An 8-year-old boy is brought to the office because he has been unable to smile, close his mouth, or completely close his eyes since birth. Physical examination shows facial immobility, strabismus, and syndactyly of the ring and little fingers. Which of the following is the most likely diagnosis? A ) Klippel-Tranaunay syndrome B ) Mobius syndrome C ) Pierre Robin sequence D ) Poland syndrome E ) Treacher Collins syndrome
B ) Mobius syndrome
In most studies, Mobius syndrome is defined as congenital facial weakness combined with abnormal ocular abduction ― weakness of cranial nerves VII and VI. The typical phenotypic appearance of an affected individual includes an immobile facial appearance and ocular palsy. A mask-like facial appearance is pathoneumonic. Additional musculoskeletal abnormalities occur in one third of patients with Mobius syndrome.
Mobius syndrome
In most studies, Mobius syndrome is defined as congenital facial weakness combined with abnormal ocular abduction €― weakness of cranial nerves VII and VI. The typical phenotypic appearance of an affected individual includes an immobile facial appearance and ocular palsy. A mask-like facial appearance is pathoneumonic. Additional musculoskeletal abnormalities occur in one third of patients with Mobius syndrome.
Treacher Collins syndrome includes which clefts?
Considered the combination of Tessier No. 6, 7, and 8 clefts
Typical features of Treacher Collins syndrome
downward slanting eyes, lower eyelid colobomas, micrognathia, conductive hearing loss, underdeveloped zygoma, and malformed or absent ears
Poland syndrome associated upper extremity abnormalities
Syndactyly often occurs in the ipsilateral hand
Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome is characterized by a triad of port-wine stain, varicose veins, and bony and soft-tissue hypertrophy involving an extremity
A 2-day-old male newborn is evaluated in the neonatal intensive care unit because of a “jaw deformity” and difficulty breathing. The patient was born at term following an uncomplicated pregnancy and delivery. He responds appropriately to stimulation. Examination shows micrognathia, glossoptosis, and a cleft palate. The infant demonstrates retractions while breathing. Pulse oximetry shows an oxygen saturation of 92%. Which of the following is the most appropriate initial management?
A ) CT scan of the head with three-dimensional reconstruction
B ) Endoscopic evaluation of the airway
C ) Prone positioning of the newborn
D ) Tongue-lip adhesion
E ) Tracheostomy
C ) Prone positioning of the newborn
These patients have airway obstruction secondary to the large size of their tongue relative to their diminutive mandible. Placing them in prone position allows for the tongue and jaw to fall forward, frequently alleviating their airway problems.
A 30-year-old woman comes to the office because of a 1-year history of a clicking sensation when she opens her mouth. She was involved in a motor vehicle collision in which her face struck the steering wheel 1 year ago. Physical examination shows midline dental structures without deviation. Which of the following is the most likely cause of this patient’s condition?
A ) Disruption of the lateral pterygoid muscle
B ) Foreign body within the joint space
C ) Malunion of a coronoid fracture
D ) Nonunion of a condylar fracture
E ) Subluxation of the articular disk
E ) Subluxation of the articular disk
The sensation of clicking when the jaw is repeatedly opened and closed is usually caused by subluxation of the articular disk.
Air within the joint space may occur following open fractures of the mandibular condyle. The presence of a foreign body within the joint space produces pain and decreased range of motion rather than clicking. Similar symptoms are also noted in patients with degenerative disease affecting the TMJ
Sensation of clicking when the jaw is repeatedly opened and closed
Motion at the temporomandibular joint (TMJ) is best appreciated by placing one’s fingers either inside the external auditory canal or just anterior to it. The sensation of clicking when the jaw is repeatedly opened and closed is usually caused by subluxation of the articular disk. The disk normally lies centrally between the two joint spaces.
Conservative treatment for TMJ disk subluxation
Conservative treatment involves adjustment of the patient’s bite with a splint, anti-inflammatory drugs, and physical therapy. Surgical treatment is reserved for patients who fail conservative therapy.
A 2-month-old female infant is brought to the office because her parents are concerned about the flat appearance of her forehead that they first noticed 2 weeks ago. Physical examination shows flattening of the right side of the forehead and left side of the occiput, and the left ear is positioned farther forward than the right. A photograph is shown. Which of the following is the most appropriate initial management? A ) Calvarial vault remodeling B ) CT scan C ) MRI D ) Placement of a molding helmet E ) Repositioning exercises
E ) Repositioning exercises
A 9-month-old boy is brought to the office because of a midline glabellar mass. The parents report that it has enlarged gradually since they first noticed it 6 months ago; it does not change in size when the patient cries. Physical examination shows a nonmobile, firm, and nontender mass. The nasal root is not broadened, and intercanthal distance is within normal limits. Which of the following is the most likely diagnosis? A ) Dermoid cyst B ) Encephalocele C ) Glioma D ) Hemangioma E ) Pilomatricoma
A ) Dermoid cyst
The most likely diagnosis in the scenario described is a dermoid cyst. Nasal dermoids are the most common congenital nasal mass. Dermoid cysts most often occur in children in the lateral brow or midline glabellar region. They generally grow slowly, and intracranial communication should be ruled out with either a CT scan or MRI. Intracranial communication is less likely in this scenario because thereis no broadening of the nasal root or increased intercanthal distance
Encephalocele
An encephalocele is a midline malformation that is present at birth and addressed shortly thereafter. On physical examination, it would be soft and mobile. CT scan or MRI would confirm this diagnosis. A hemangioma or encephalocele may change size with crying.
Nasal dermoids
Nasal dermoids are the most common congenital nasal mass. Dermoid cysts most often occur in children in the lateral brow or midline glabellar region. They generally grow slowly, and intracranial communication should be ruled out with either a CT scan or MRI.
Most common congenital nasal mass
Nasal dermoids
Pilomatricoma
A pilomatricoma is a rare, benign, circumscribed epithelial neoplasm that is derived from hair matrix cells. It is classically not fixed and very superficial.
A 15-year-old girl with a history of an optic glioma, multiple cafe-au-lait spots, and a large plexiform neurofibroma of the cheek comes to the office for evaluation. Which of the following best represents her lifetime risk of developing a malignant peripheral nerve sheath tumor? A ) Less than 15% B ) 20% to 35% C ) 40% to 60% D ) 65% to 80% E ) Greater than 85%
A ) Less than 15%
Plexiform neurofibromas are clinically present in ___% of patients w/ NF1
25%
Plexiform neuroma
his type of neurofibroma consists of a network of neurofibroma tissue and grows along the length of nerves, often involving multiple nerve fascicles, branches, and plexi.
Malignant peripheral nerve sheath tumors develop in ___% of patients w/ NF1
Individuals with NF1 have a 7 to 13% lifetime risk of developing a malignant peripheral nerve sheath tumor (MPNST)
Origin of most malignant peripheral nerve sheath tumors
Usually from a pre-existing plexiform neurofibroma
A 28-year-old man with a skull tumor underwent resection with a resultant bony defect and exposed dura mater. A reconstructive alloplastic cranioplasty was performed, which was complicated by iatrogenic burns to the dura mater, underlying brain, and surrounding soft tissue. Which of the following alloplastic materials was most likely used? A ) High-density porous polyethylene B ) Methylmethacrylate C ) Nonceramic hydroxyapatite cement D ) Polytetrafluoroethylene E ) Silicone
B ) Methylmethacrylate
Which of the following findings does NOT support a clinical diagnosis of posterior deformational plagiocephaly? A ) Anteriorly displaced ipsilateral ear B ) Horizontal and level skull base C ) Ipsilateral mastoid bulging D ) Ipsilateral occipital flattening E ) Parallelogram-shaped head
C ) Ipsilateral mastoid bulging
Clinical presentation of deformation plagiocephaly
Clinically, posterior deformational plagiocephaly presents with ipsilateral occipital head flattening, ipsilateral forehead displacement, ipsilateral ear forward displacement, and an overall parallelogram-shaped head when viewed from the top-down position. The skull base is horizontal, level, and unaffected in posterior deformational plagiocephaly.
Clinical presentation of unilateral lambdoid craniosynostosis
Unilateral lambdoid craniosynostosis presents with ipsilateral occipital flattening. Because the lambdoid suture is fused, compensatory growth, parallel to the fused suture, results in contralateral parietal bossing and ipsilateral mastoid bulging resulting in a canted skull base. This produces an overall trapezoid head shape when viewed from the top-down position
A 6-month-old girl is brought to the office for evaluation of left anterior plagiocephaly. Physical examination shows posterior displacement of the ipsilateral supraorbital rim, deviation of the nasal root, and bossing of the right forehead. A three-dimensional CT is shown. Which of the following is the most appropriate management?
A ) Fronto-orbital advancement
B ) Molding helmet therapy
C ) Monobloc advancement
D ) Repositioning of the child during sleep
A ) Fronto-orbital advancement
The patient described has unilateral coronal synostosis. The most common presenting symptom is ipsilateral anterior forehead flattening, or plagiocephaly. This finding can be seen in patients with deformational plagiocephaly. Several anatomic features can be used to differentiate these two different etiologies of plagiocephaly.
In synostotic plagiocephaly, there is widening of the ipsilateral palpebral fissure, superior and posterior displacement of the supraorbital rim and eyebrow on the affected side, a higher ipsilateral ear, and deviation of the nasal root toward the affected side. The anterior fontanelle is displaced away from the affected side. The appropriate surgical procedure to correct synostotic plagiocephaly is a fronto-orbital advancement procedure. Resection of the left coronal suture will eliminate the abnormal suture but will notcorrect the other facial deformities.
Appropriate surgical procedure to correct synostotic plagiocephaly
Fronts-Orbital advancement prodecure
Resection of the left coronal suture will eliminate the abnormal suture but won’t correct the other facial deformities.
Patients with which of the following syndromes typically demonstrate hypernasality with speech? A ) Crouzon B ) Hemifacial microsomia C ) Pfeiffer D ) Saethre-Chotzen E ) Velocardiofacial
E ) Velocardiofacial
Patients with velocardiofacial syndrome (VCF) typically demonstrate velopharyngeal insufficiency, which results in a hypernasal quality of speech.
Speech of patients with velocardiofacial syndrome
Patients with velocardiofacial syndrome (VCF) typically demonstrate velopharyngeal insufficiency, which results in a hypernasal quality of speech.
Velocardiofacial syndrome is a result of:
Velocardiofacial syndrome is a result of a 22q11.2 deletion and has a wide spectrum of anomalies.
Palate abnormality in velocardiofacial syndrome
The palate abnormality in VCF can vary from palatal weakness to a submucous or complete cleft of the palate.
Cardiac abnormalities in velocardiofacial syndrome
The cardiovascular anomalies include ventricular septal defect, tetralogy of Fallot, and right-sided aortic arch.
Facial appearance in velocardiofacial syndrome
The characteristic facies are malar flattening, narrow palpebral fissures, mall ears, vertical maxillary excess, and relative mandibular retrusion.
A 3-year-old boy with hemifacial microsomia has the anomaly shown in the photograph (epibulbar dermoids). Which of the following is the most likely diagnosis? A ) Goldenhar syndrome B ) Stickler syndrome C ) Treacher Collins syndrome D ) Van der Woude syndrome E ) Velocardiofacial syndrome
A ) Goldenhar syndrome
Goldenhar syndrome (oculoauriculovertebral spectrum) is a subset of hemifacial microsomia and, in addition to microsomia of the face, includes vertebral anomalies and/or epibulbar dermoids (as shown in the photograph).
In addition to being a subset of hemifacial microsomia, patients with Goldenhar syndrome also demonstrate:
Vertebral anomalies and/or epibulbar dermoids
Which of the following cranial sutures is the first to undergo physiologic closure? A ) Coronal B ) Lambdoid C ) Metopic D ) Sagittal E ) Squamosa
C ) Metopic
Physiologic or normal closure of the metopic suture occurs prior to any of the other sutures listed. Recent studies report a potentially even earlier closure of the metopic, at six months, than previously thought. Priorto this most recent study, the metopic was thought to close normally around 2 years of age. All of the other sutures begin closure much later with the closure progression being sagittal (22 years), coronal (24 years), lambdoid (26 years), and the squamosal (35 years).
Progression of closure of sutures
Metopic by ~6 months Sagittal (22 years) Coronal (24 years) Lambdoid (26 years) Squamosal (35 years)
A 3-year-old girl with mid face hypoplasia, proptosis, and malocclusion is brought to the office for consultation. Which of the following is the most likely occlusal relationship in this patient? A ) Angle class I B ) Angle class II, division 1 C ) Angle class II, division 2 D ) Angle class III
D ) Angle class III
The patient described with Crouzon disease and a hypoplastic mid face has an Angle class III malocclusion.
Angle class 1 occlusion
Angle class I is characterized by the alignment of the mesiobuccal cusp of the maxillary first molar with the mesiobuccal groove of the mandibular first molar.
Angle class II malocclusion
Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar.
Angle class II malocclusion, division 1
Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar. Angle class II division 1 is associated with flaring of the maxillary incisors and increased overjet.
Angle class II malocclusion, division 2
Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar. Angle class II division 2 is associated with lingually displaced maxillary teeth and excessive labial inclination of the maxillary central incisors.
Syndromic cleft palate is most commonly found in patients with which of the following syndromes? A ) Apert B ) Saethre-Chotzen C ) Stickler D ) Van der Woude
C ) Stickler
Stickler syndrome accounts for 25% of syndromic cleft palate cases. As the most common form of syndromic cleft palate, this syndrome is also associated with ocular and auditory defects.
Of the others, only Van der Woude syndrome is associated with cleft palate and accounts for 1% of syndromic cleft defects.
Stickler syndrome accounts for _______% of syndromic cleft palate cases.
Stickler syndrome accounts for 25% of syndromic cleft palate cases. As the most common form of syndromic cleft palate, this syndrome is also associated with ocular and auditory defects.
Most common syndromic cleft palate
Stickler syndrome
What type of synostosis occurs with Apert syndrome?
Ani-or bicoronal craniosynostosis
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly characterized by coronal craniosynostosis, low hairline, proptosis, antimongoloid slanting of palpebral fissures, and nasal deviation.
Van der Woude syndrome accounts for _______% of syndromic cleft palate cases.
Van der Woude syndrome, associated with lowerlip pitting and cleft palate, accounts for 1% of syndromic cleft defects.
An 8-year-old boy is brought to the office because of new-onset facial asymmetry that has slowly progressed over the past six months. The patient is otherwise healthy and hasno other abnormalities. A current photograph is shown. Which of the following is the most likely diagnosis? A ) Binder syndrome B ) Craniofacial fibrous dysplasia C ) Oculoauriculovertebral spectrum D ) Romberg disease E ) Treacher Collins syndrome
D ) Romberg disease
Binder syndrome
Patients with Binder syndrome, or nasomaxillary or premaxillary hypoplasia, have low-set and flat nasal tip, a short, retracted columella, Class III occlusion, and a columella and upper lip that is ―drawn into‖ the floor of the nostrils.
McCune-Albright syndrome.
Fibrous dysplasia is a bony dysplasia, presenting as localized bony deformity (ground glassappearance on CT scan). Fibrous dysplasia may be limited to a localized area (monostotic) or may be generalized, affecting many sites (polyostotic), and is called McCune-Albright syndrome.
