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Question 7321

Topic: 6. Spine

A 6-year-old boy with Morquio syndrome (MPS IV) is scheduled for elective dental surgery under general anesthesia. Which of the following preoperative assessments is most critical?

. CT of the chest
. Flexion-extension cervical spine radiographs
. MRI of the lumbar spine
. Echocardiogram alone
. DEXA scan

Correct Answer & Explanation

. Flexion-extension cervical spine radiographs


Explanation

Morquio syndrome features severe odontoid hypoplasia and ligamentous laxity. Flexion-extension cervical radiographs are mandatory prior to any procedure requiring anesthesia to rule out life-threatening atlantoaxial instability.

Question 7322

Topic: 6. Spine

A 45-year-old male with achondroplasia presents with progressively worsening neurogenic claudication. The primary anatomical cause of spinal stenosis in this patient population is:

. Hypertrophied ligamentum flavum
. Spondylolisthesis
. Decreased interpedicular distance from short pedicles
. Disc herniation
. Facet joint hypertrophy

Correct Answer & Explanation

. Decreased interpedicular distance from short pedicles


Explanation

Achondroplasia involves a mutation in FGFR3 leading to abnormal endochondral ossification. This results in characteristically short, thickened pedicles causing decreased interpedicular distance and severe spinal stenosis.

Question 7323

Topic: 6. Spine

A 6-month-old infant with diastrophic dysplasia is noted to have a cervical kyphosis on lateral radiographs. Which of the following statements is true regarding this deformity?

. It always progresses to neurological deficit
. Halo gravity traction is the first line of treatment
. Posterior fusion is immediately indicated
. It is caused by severe odontoid hypoplasia
. The deformity usually resolves spontaneously without intervention

Correct Answer & Explanation

. The deformity usually resolves spontaneously without intervention


Explanation

Cervical kyphosis is common in infants with diastrophic dysplasia. Unlike many other skeletal dysplasias, this specific deformity typically resolves spontaneously as the child grows, although close clinical monitoring is still required.

Question 7324

Topic: 6. Spine

A 10-year-old child with pseudoachondroplasia presents for a routine orthopedic evaluation. Which spinal deformity is most prevalent in this condition and warrants close monitoring?

. Lumbar spondylolisthesis
. Thoracolumbar kyphosis
. Atlantoaxial instability
. Cervical kyphosis
. Sacral agenesis

Correct Answer & Explanation

. Atlantoaxial instability


Explanation

Pseudoachondroplasia (COMP mutation) typically presents with normal facies but significant skeletal deformities. The most critical spinal anomaly is atlantoaxial instability secondary to odontoid hypoplasia and ligamentous laxity.

Question 7325

Topic: 6. Spine
A 15-year-old with Osteogenesis Imperfecta Type III presents with chronic headache, lower cranial nerve dysfunction, and hyperreflexia. What is the most likely underlying diagnosis?
. Basilar invagination
. Atlantoaxial rotatory subluxation
. Foramen magnum stenosis
. Syringomyelia
. Cervical disc herniation

Correct Answer & Explanation

. Basilar invagination


Explanation

Osteogenesis Imperfecta Type III is prone to cranial settling and basilar invagination due to bone fragility and softening of the skull base. This presents with lower cranial nerve palsies, pyramidal tract signs, and occipital headaches.

Question 7326

Topic: 6. Spine

A 4-year-old is diagnosed with Spondyloepiphyseal Dysplasia Congenita (SEDC). This condition is caused by a mutation in which gene, and what is its classic cervical spine manifestation?

. Type I collagen / Basilar invagination
. Type IX collagen / Lumbar stenosis
. Type X collagen / Spondylolisthesis
. Type II collagen / Odontoid hypoplasia
. FGFR3 / Foramen magnum stenosis

Correct Answer & Explanation

. Type II collagen / Odontoid hypoplasia


Explanation

SEDC is an autosomal dominant disorder caused by a defect in Type II collagen (COL2A1). It classically presents with short-trunk dwarfism, coxa vara, and odontoid hypoplasia leading to upper cervical instability.

Question 7327

Topic: 6. Spine

An adult with achondroplasia is undergoing lumbar decompression for severe stenosis. Due to the unique anatomy, what surgical technique modification is generally required?

. Expansile laminoplasty
. Stand-alone interspinous spacer
. Standard midline laminectomy sparing the facet joints
. Foraminotomy alone
. Wide decompression including complete laminectomy and partial pediculectomy

Correct Answer & Explanation

. Wide decompression including complete laminectomy and partial pediculectomy


Explanation

Due to the extremely short pedicles and decreased interpedicular distance in achondroplasia, a standard midline laminectomy is inadequate. A wide decompression extending laterally, often including partial pediculectomy, is required to decompress the nerve roots.

Question 7328

Topic: 6. Spine

During the evaluation of a child with a mucopolysaccharidosis, differentiating between Morquio syndrome and Hurler syndrome is crucial. Which spinal manifestation is uniquely prominent and severe in Morquio syndrome?

. Congenital scoliosis
. Tethered cord
. Severe atlantoaxial instability
. Lumbar hyperlordosis
. Spina bifida occulta

Correct Answer & Explanation

. Severe atlantoaxial instability


Explanation

While both are mucopolysaccharidoses, Morquio syndrome (MPS IV) specifically features severe odontoid hypoplasia and atlantoaxial instability. Hurler syndrome (MPS I) more classically presents with a pronounced thoracolumbar kyphosis (gibbus deformity).

Question 7329

Topic: 6. Spine

An infant presents with stippled epiphyses on radiographs and asymmetrical shortening of the limbs. What life-threatening spinal abnormality is highly associated with this skeletal dysplasia?

. Sacral agenesis
. Diastematomyelia
. Thoracic scoliosis
. Cervical kyphosis with spinal canal stenosis
. Lumbar spondyloptosis

Correct Answer & Explanation

. Cervical kyphosis with spinal canal stenosis


Explanation

Chondrodysplasia punctata is characterized by stippled epiphyses (calcific stippling of cartilage). It is highly associated with severe, life-threatening cervical kyphosis and spinal canal stenosis, necessitating urgent evaluation.

Question 7330

Topic: 6. Spine

An infant presents with severe bowing of the lower extremities, ambiguous genitalia, and respiratory distress. Which spinal anomaly is a classic feature of this specific skeletal dysplasia?

. Spondylolysis
. Lumbar stenosis
. Hypoplastic cervical vertebrae with severe cervical kyphosis
. Hemivertebrae
. Sacral agenesis

Correct Answer & Explanation

. Hypoplastic cervical vertebrae with severe cervical kyphosis


Explanation

Campomelic dysplasia (SOX9 mutation) presents with bowed limbs, respiratory distress, and sex reversal (XY females). A classic and critical spinal manifestation is hypoplastic cervical vertebrae resulting in severe cervical kyphosis.

Question 7331

Topic: 6. Spine

A neonate is diagnosed with Spondyloepiphyseal Dysplasia Congenita (SEDC). Clinical features include a short trunk, normal-length limbs, and a cleft palate. What is the most dangerous orthopedic complication associated with the cervical spine in this condition?

. Klippel-Feil anomaly
. Severe rotatory subluxation
. Atlantoaxial instability due to odontoid hypoplasia
. Congenital cervical stenosis from short pedicles
. Cervical kyphosis requiring early fusion

Correct Answer & Explanation

. Atlantoaxial instability due to odontoid hypoplasia


Explanation

SEDC is a type II collagenopathy associated with odontoid hypoplasia. This structural defect significantly increases the risk of severe atlantoaxial instability, potentially leading to catastrophic neurologic injury.

Question 7332

Topic: 6. Spine

An 8-year-old boy presents with progressive severe thoracolumbar kyphoscoliosis, a short trunk, and normal intelligence. He has a history of bilateral retinal detachments. Which of the following cervical spine abnormalities is most critical to screen for in this patient?

. Basilar invagination
. Atlantoaxial instability due to odontoid hypoplasia
. Congenital cervical block vertebrae
. Subaxial cervical stenosis
. Cervical kyphosis

Correct Answer & Explanation

. Atlantoaxial instability due to odontoid hypoplasia


Explanation

Spondyloepiphyseal dysplasia congenita (SEDC) is caused by a COL2A1 mutation. Patients present with short-trunk dwarfism and myopia or retinal detachment, and they are at high risk for atlantoaxial instability secondary to odontoid hypoplasia.

Question 7333

Topic: Cervical Spine

A 6-year-old child presents with extreme ligamentous laxity, short stature, and progressive severe kyphoscoliosis. Urine analysis reveals elevated levels of keratan sulfate. Radiographs demonstrate universal platyspondyly with anterior central beaking. Which of the following is an absolute surgical indication in this disorder?

. Progressive genu valgum
. Odontoid hypoplasia with neurological deficit
. Development of corneal clouding
. Subluxation of the radial head
. Progressive hearing loss

Correct Answer & Explanation

. Odontoid hypoplasia with neurological deficit


Explanation

Morquio syndrome (MPS IV) is characterized by keratan sulfate accumulation and extreme ligamentous laxity. Odontoid hypoplasia with atlantoaxial instability is a hallmark; any associated neurologic deficit warrants urgent cervical spine fusion.

Question 7334

Topic: 6. Spine

A 14-year-old boy with Neurofibromatosis Type 1 (NF1) is evaluated for a rapidly progressive spinal deformity. Radiographs show a short, sharp, acutely angulated curve spanning four contiguous vertebrae with severe vertebral wedging and rib penciling. What is the most appropriate management for this specific spinal deformity?

. Observation until skeletal maturity
. Application of a Milwaukee brace
. Posterior spinal fusion alone
. Combined anterior and posterior spinal fusion
. VEPTR insertion

Correct Answer & Explanation

. Combined anterior and posterior spinal fusion


Explanation

Dystrophic scoliosis in NF1 is highly progressive and carries a significant risk of pseudoarthrosis. Standard treatment requires rigid combined anterior and posterior spinal arthrodesis.

Question 7335

Topic: 6. Spine

A 6-year-old boy with disproportionate short-trunk dwarfism undergoes preoperative evaluation for severe coxa vara. He has a history of high myopia and a prior retinal detachment. Radiographs reveal flattening of the vertebral bodies. What crucial evaluation must be performed before administering general anesthesia?

. Echocardiogram to assess for aortic root dilation
. Flexion-extension radiographs of the cervical spine
. Pulmonary function testing
. Renal ultrasound to check for horseshoe kidney
. Measurement of serum alkaline phosphatase

Correct Answer & Explanation

. Flexion-extension radiographs of the cervical spine


Explanation

Spondyloepiphyseal Dysplasia Congenita (SEDC) is a type II collagenopathy (COL2A1) associated with odontoid hypoplasia and atlantoaxial instability. Flexion-extension cervical spine radiographs are essential before surgery to prevent spinal cord injury during intubation.

Question 7336

Topic: 6. Spine

A 4-year-old boy with achondroplasia presents with delayed motor milestones, hypotonia, and central sleep apnea. What is the most appropriate initial screening study for this patient's suspected complication?

. Polysomnography
. Cervical spine MRI
. CT scan of the temporal bone
. Skeletal survey
. Electroencephalogram (EEG)

Correct Answer & Explanation

. Cervical spine MRI


Explanation

Cervicomedullary compression at the foramen magnum is a life-threatening complication of achondroplasia, presenting with sleep apnea and hypotonia. An MRI of the craniocervical junction is essential to evaluate for stenosis and cord signal changes.

Question 7337

Topic: 6. Spine

A newborn presents with short-limbed dwarfism, bilateral clubfeet, hitchhiker thumbs, and cystic swelling of the pinnae. Radiographs reveal a severe mid-cervical kyphosis. What is the typical natural history of this cervical deformity?

. Rapid progression to paraplegia
. Spontaneous resolution with growth in the majority of cases
. Requires urgent posterior spinal fusion
. Develops into atlantoaxial rotatory fixation
. Progresses to generalized hypermobility

Correct Answer & Explanation

. Spontaneous resolution with growth in the majority of cases


Explanation

Diastrophic dysplasia is caused by a sulfate transporter mutation (SLC26A2). Unlike the progressive cervical kyphosis seen in other conditions, the mid-cervical kyphosis in diastrophic dysplasia often resolves spontaneously with growth.

Question 7338

Topic: 6. Spine

A 7-year-old child with a known mutation in the COL2A1 gene requires bilateral femoral osteotomies for severe coxa vara. Associated clinical findings include a barrel chest, myopia, and flat midface. Prior to intubation, which of the following must be evaluated?

. Lumbar spine MRI for tethered cord
. Flexion-extension cervical spine radiographs
. Echocardiogram for aortic root dilation
. Renal ultrasound for nephrocalcinosis
. Pulmonary function tests

Correct Answer & Explanation

. Flexion-extension cervical spine radiographs


Explanation

Spondyloepiphyseal dysplasia congenita (SEDC) is a type II collagenopathy commonly associated with odontoid hypoplasia. Flexion-extension radiographs of the cervical spine are mandatory before anesthesia to rule out atlantoaxial instability.

Question 7339

Topic: 6. Spine

A 6-year-old child with a short trunk, coxa vara, and high myopia presents with progressive weakness and hyperreflexia in all four extremities. What is the most critical cervical spine anomaly that must be evaluated in this patient?

. Atlantoaxial instability due to odontoid hypoplasia
. Cervical kyphosis due to anterior vertebral body wedging
. Basilar invagination
. Subaxial cervical stenosis
. Congenital cervical block vertebrae (Klippel-Feil)

Correct Answer & Explanation

. Atlantoaxial instability due to odontoid hypoplasia


Explanation

Spondyloepiphyseal Dysplasia Congenita (SEDC) is a type II collagenopathy (COL2A1) characterized by short-trunk dwarfism. Odontoid hypoplasia is extremely common and can lead to severe atlantoaxial instability, requiring careful screening with flexion-extension cervical radiographs.

Question 7340

Topic: 6. Spine

A 50-year-old man presents with rapid, painless swelling and severe radiographic destruction of the right shoulder joint over the past 3 months. Neurological exam reveals a loss of pain and temperature sensation in a cape-like distribution over the upper extremities. What is the most appropriate next step in diagnosis?

. Serum RPR and VDRL testing
. Hemoglobin A1c and fasting glucose
. MRI of the cervical spine
. Joint aspiration and bacterial culture
. Genetic testing for Charcot-Marie-Tooth disease

Correct Answer & Explanation

. MRI of the cervical spine


Explanation

Neuropathic arthropathy (Charcot joint) of the upper extremity, combined with a loss of pain/temperature sensation in a cape-like distribution, is highly suspicious for syringomyelia. An MRI of the cervical spine is the diagnostic modality of choice.