Pediatrics Flashcards
Abnormal development.
Dysplasia.
Achondroplasia defect.
FGFR3
Hyprochondroplasia defect.
FGFR3
Thanatophoric dysplasia defect.
FGFR3
Pseudoachondroplasia defect.
COMP
Multiple epiphyseal dysplasia type I defect.
COMP
Multiple epiphyseal dysplasia type II defect.
Collagen type IX.
Diastrophic dysplasia defect.
Sulfate transporter gene.
Craniosynostosis defect.
FGFR2
Cleidocranial dysplasia defect.
CBFA1
Hypophosphatemic ricks defect.
PEX
Marfan syndrome genetic defect.
Fibrillin-1
Osteogenesis imperfecta defect.
Collagen type I
Duchenne muscular dystrophy genetic defect.
Dystrophin
Charcot-Marie-Tooth disease genetic defect.
PMP22
Myotonic dystrophy genetic defect.
Myotonin.
Friedrich ataxia genetic defect.
Frataxin.
Symmetric decrease in both trunk and limb length.
Proportionate dwarfism.
Two broad types of disproportionate dwarfism.
- Short-trunk variety
2. Short-limb variety
Rhizomelic dwarfism.
Proximal limb short.
Mesomelic dwarfism.
Middle limb short.
Acromelic dwarfism.
Distal limb short.
Inheritance of achondroplasia.
Autosomal dominant
Most cases of achondroplasia are due to ____ mutations.
Spontaneous.
Most common form of disproportionate dwarfism.
Achondroplasia.
This type of bone formation is affected in achondroplasia.
Endochondral.
Frontal bossing, button nose, small nasal bridge, trident hands.
Achondroplasia.
Most likely issue to cause disability in achondroplasia.
Lumbar stenosis.
Spondyloepiphyseal dysplasia must be differentiated from this.
Multiple epiphyseal dysplasia.
Distinguishing features of spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia is this.
Spine involvement.
Femoral involvement in multiple epiphyseal dysplasia may be confused with this.
Perthes disease.
Most common mucopolysaccharidosis.
Morquio syndrome.
Mucopolysaccharidosis characterized by keratan sulfate urinary excretion.
Morquio syndrome.
C1-2 instability in Morquio syndrome caused by this.
Odontoid hypoplasia.
Morquio syndrome inheritance.
Autosomal recessive.
Cause of diastrophic dysplasia.
Deficiency in sulfate transporter protein.
Characteristic spinal deformity of diastrophic dysplasia.
Cervical kyphosis.
Defect in transcription factor for osteocalcin causes this.
Cleidocranial dysplasia.
Most seriously spinal manifestation of Down syndrome.
Atlantoaxial instability.
45 XO genotype.
Turner syndrome.
Female, short stature, webbed neck, lack of sexual development.
Turner syndrome.
This anesthetic complication is associated with Turner syndrome.
Malignant hyperthermia.
Floppy, hypotonic infant who grows up to be an intellectually impaired, obese adult with an insatiable appetite.
Prader-Willi Syndrome
Orthopaedic manifestations of Beckwith-Wiedemann Syndrome (2).
- Hemihypertrophy
2. Spastic cerebral palsy
Predisposition to ____ tumor with Beckwith-Wiedemann syndrome.
Wilms
Decreased amount of Factor VIII.
Hemophilia A.
Abnormal factor VIII.
von Willebrand disease.
Decreased amount of Factor IX.
Hemophilia B.
The most common malignancy of childhood.
Leukemia.
The most common form of childhood leukemia.
Acute lymphocytic leukemia.
Helps differentiate homocystinuria from Marfan syndrome.
Marfan – superior lens dislocation
Homocystinuria – inferior lens dislocation
Opthalmic diagnosis in juvenile idiopathic arthritis.
Iridocyclitis.
Three types of birth-related brachial plexus palsies.
- Erb-Duchenne
- Total plexus
- Klumpke
Markers of poor prognosis for birth-related brachial plexus palsies (2).
- Lack of biceps function at 6 months
2. Presence of Horner syndrome
Commonly encountered pediatric “packaging defects” (3).
- Hip dysplasia
- Metatarsus adductus
- Congenital muscular torticollis
Passive stretching of congenital muscular torticollis.
Rotate infant’s chin to ipsilateral shoulder while tilting the head toward contralateral shoulder.
Treatment of congenital torticollis if persists past 1 year.
Z-plasty of sternocleidomastoid muscle.
Periventricular leukomalacia.
Cerebral palsy.
In cerebra palsy, constant succession of slow, writhing, involuntary movements.
Athetosis.
Persistence of two or more primitive reflexes suggests this.
That the child will not be able to ambulate.
Mechanism of action of botulinum toxin.
Presynaptic blockade at neuromuscular junction
Duration of botulinum toxin effects.
6 months.
The two major pediatric conditions associated with multiple joint contractures.
- Arthrogryposis
2. Larsen syndrome
Pediatric condition characterized by cutaneous flexor surface webs.
Multiple pterygium syndrome.
The myelodysplasia level is based on the _____ functional level.
lowest
Defect in vertebral arch with confined cord and meninges.
Spina bifida occulta.
Sac without neurla elements protruding through the defect.
Meningocele.
Sac with neural elements protruding through the skin.
Myelominigocele.
Ambulatory function of L1 myelomeningocele.
Nonfunctional.
Ambulatory function of L2 myelomeningocele.
Nonfunctional.
Ambulatory function of L3 myelomeningocele.
Household ambulator.
Ambulatory function of L4 myelomeningocele.
Household ambulator, some community.
Ambulatory function of L5 myelomeningocele.
Community ambulator.
Ambulatory function of S1 myelomeningocele.
Near normal.
Most common comorbid condition with spina bifida.
Type II Arnold-Chiari malformation.
Containment of hip dislocations in patients with myelodysplasia is essential in these patients.
Those with functioning quadriceps.
Rapid curve progression in myelomeningocele may be associated with these (3).
- Tethered cord
- Hydrocephalus
- Syringomyelia
In Duchenne muscular dystrophy, this lab value is markedly elevated.
Creatine phosphokinase
This protein is absent in Duchenne muscular dystrophy
Dystrophin.
This type of muscle weakness in Duchenne muscular dystrophy.
Proximal.
Inheritance pattern of Duchenne muscular dystrophy.
X-linked recessive.
Inheritance pattern of Becker muscular dystrophy.
X-linked recessive.
Inheritance pattern of facioscapulohumeral muscular dystrophy.
Autosomal dominant.
Inheritance pattern of limb-girdle muscular dystrophy.
Autosomal recessive.
Inheritance of Friedreich ataxia.
Autosomal recessive.
Most severely affected muscles in CMT (3).
- Tib ant
- Peroneus longus
- Peroneus brevis
This deformity occurs first during development of pes cavus in CMT.
Plantar flexion of the first ray.
This disease is caused by competitive inhibition of acetylcholine receptors at the motor end plate by antibodies produced in the thymus gland.
Myasthenia gravis.
Poliomyelitis causes destruction of these cells.
Anterior horn cells in spinal cord and brainstem motor nuclei.
Spinal muscular atrophy associated with this gene.
Survival motor neuron gene (SMN).
Eponym for spinal muscular atrophy.
Werdnig-Hoffman disease.
Overgrowth syndromes (3).
- Proteus syndrome
- Klippel-Trenaunay syndrome
- Hemihypertrophy
Infatile idiopathic scoliosis.
Onset before 3 years of age.
Juvenile idiopathic scoliosis.
Onset between 3-10 years of age.
Adolescent idiopathic scoliosis.
Onset after 10 years of age.
Scioliometer threshold for referral.
7 degrees.
Screening test for adolescent idiopathic scoliosis.
Adams forward bend test.
Thoracic hypokyphosis is associated with this type of scoliososis.
Idiopathic.
Adolescent idiopathic curves are generally this side.
Right-sided.
Indications for observation with AIS (2).
- Skeletally immature (Risser 0, 1) with curve less than 25 deg.
- Skeletally mature (Risser 2, higher) with curve less than 45 deg
Types of braces with AIS (2) with frequency.
- Milwaukee brace (uncommon)
2. Boston underarm brace (common)
Lenke Type I definition.
Single thoracic curve.
Lenke Type II definition.
Double thoracic curve.
Lenke Type III definition.
Double major curve.
Lenke Type IV definition.
Triple major curve.
Lenke Type V definition.
Single thoracolumbar/lumbar curve.
Lenke Type VI definition.
Primary thoracolumbar/lumbar curve and compensatory thoracic curve.
Definition of structural curves (2).
- Largest curve
2. Additional curves that fail to bend to less than 25 deg
In the Lenke classification, the lumbar modifier is based on the position of the apical vertebra of the thoracolumbar/lumbar curve in relation to this.
The center sacral vertical line (CSVL).
Lenke lumbar modifier type A.
CSVL between pedicles of apical vertebra.
Lenke lumbar modifier type B.
CSVL touches between concave pedicle and lateral body.
Lenke lumbar modifier type C.
CSVL is medial to apical vertebra.
Most proximal vertebra that is most closely bisected by the CSVL.
Stable vertebra.
Most tilted vertebra.
End vertebra.
For posterior spinal fusion in AIS, the level of proximal fusion.
Proximal end vertebra.
For posterior spinal fusion in AIS, the level of distal fusion for Lenke types I and II.
Last vertebra touched by CSVL.
For posterior spinal fusion in AIS, the level of distal fusion for Lenke types III to VI.
Distal end vertebra.
Treatment for infantile idiopathic scoliosis (3).
- Mehta casting
- Bracing
- Growing rod construct
Incidence of neuraxial abnormalities with infantile idiopathic scoliosis.
20%
Incidence of spinal cord abnormality in juvenile idiopathic scoliosis.
25%
Characteristic shape of neuromuscular scoliosis.
Long, sweeping C-shaped.
Indication for spinal fusion in Duchenne muscular dystrophy.
Curve exceeding 25-30 deg.
Basic types of developmental defects in congenital scoliosis (3).
- Failure of segmentation
- Failure of formation
- Mixed
Most aggressive form of congenital scoliosis.
Unilateral unsegmented bar with contralateral hemivertebra.
Prevalence of genitourinary defects in congenital scoliosis.
25%
Prevalence of cardiac anomalies in congenital scoliosis.
10%
Congential scoliosis with best prognosis.
Block vertebra.
Which type of hemivertebra confers better prognosis, incarcerated or unincercerated?
Incarcerated.
Inheritance pattern of neurofibromatosis.
Autosomal dominant.
Neurofibromatosis is characterized by these (2).
- Neurofibromas
2. Cafe au lait spots
Scoliosis classification in neurofibromatosis (2),
- Nondystrophic
2. Dystrophic
Prognostic factor for impending rapid progression of spinal deformity in neurofibromatosis.
Penciling of 3 or more ribs.
Fibrous, cartilaginous, or osseous bar creating a longitudinal cleft in the spinal cord.
Diastematomyelia.
Partial or complete absence of the sacrum and lower lumbar spine.
Sacral agenesis.
Sacral agenesis is strongly associated with this maternal condition.
Diabetes.
Earliest radiographic finding of discitis/osteomyelitis.
Loss of lumbar lordosis.
Stress fracture at the pars interarticularis.
Spondylosis.
Pediatric forms of spondylosisthesis (2).
- Lytic
2. Dysplastic
Definition of Scheurmann’s kyphosis.
Thoracic kyphosis >45 deg with anterior wedging 5 deg or more at 3 sequential vertebra.
Indication for bracing in Scheurmann’s kyphosis.
Progressive curve Risser 2 or below with kyphotic curvature 50-75 deg.
Scheurmann’s kyphosis angle at which surgery is indicated.
75 degrees.
Abnormalities of multiple cervical segments as a result of failure of normal segmentation or formation of cervical somites.
Klippel-Feil syndrome.
Children with Klippel-Feil syndrome must avoid these.
Contact sports.
Subluxation of C2 on C3 of up to 40% or 4mm.
Pseudosubluxation.
Treatment of rotatory atlantoaxial subluxation due to retropharyngeal inflammation.
Early traction and bracing.
Eponym of rotatory atlantoaxial subluxation due to retropharyngeal inflammation.
Grisel disease.
In cervical pseudosubluxation this line is intact with flexion and extension views.
Spinolaminar line.
Deformity at the base of the skull causes odontoid migration into the foramen magnum.
Basilar invagination.
Undescended scapula often associated with winging, hypoplasia, and omovertebral connections.
Sprengel deformity.
Common causes of in-toeing (3).
- Metatarsus adductus
- Internal tibial torsion
- Femoral anteversion
Most common risk factors for DDH (4).
- Breech positioning
- Positive family history
- Female sex
- Firstborn child
Obstructions to obtaining concentric reduction in DDH (5).
- Iliopsoas tendon
- Pulvinar
- Contracted inferomedial hip capsule
- Transverse acetabular ligament
- Inverted labrum
Elevation and abduction of femur reduces a dislocated hip.
Ortalani positive.
Adducted and depression of femur dislocates a dislocatable hip.
Barlow positive.
Positive Galeazzi sign.
Foreshortened thigh on side of hip dislocation.
Ossification of the femur heads occurs at this time.
4-6 months of age.
Normal hip ultrasound for DDH eval (2).
- Alpha angle greater than 60 deg
2. Femoral head bisected by ilial line
X-rays are used to evaluate DDH at this age.
After 3 months of age.
Normal acetabular index.
Less than 25 degrees.
Ossific nucleus of femoral head normally should be here in relation to Perkins line.
Medial.
When is the Pavlik harness used to treat DDH.
Birth to 6 months.
If no reduction with Pavlik harness.
Closed reduction, arthrogrpah, spica cast.
Treatment of DDH from 6 months to 18 months.
Hip arthrography, closed reduction, percutaneous adductor tenotomy, spica casting.
Amount of hip flexion for Pavlik.
100 deg.
Impingement of this artery has been implicated in AVN related with DDH treatment in abduction orthosis.
Posterosuperior retinacular branch of medial femoral circumflex artery.
When to check hip reduction after starting Pavlik treatment.
3 weeks.
Standard duration Pavlik treatment.
23 hours per day for 6 weeks once reduction achieved. Then additional 6-8 weeks part time.
Thorn sign on hip arthrogram indicates this.
Normal labral position.
Five obstacles to reduction in DDH.
- Transverse acetabular ligament
- Pulvinar
- In-folded labrum
- Inferior capsule
- Psoas tendon
Anterior open reduction for DDH has less risk of this.
Medial femoral circumflex artery.
Medial open reduction of DDH may be done up to this age.
12 months.
Salvage osteotomies (2).
- Chiari
2. Shelf
Salvage osteotomies require this.
Metaplastic tissue (fibrocartilage) development.
Percentage of bilateral involvement in Perthes.
12-15%.
Bilateral Perthes involvement is never this.
Simultaneous. Always a time lag.
Bilateral Perthes involvement may mimic this.
Multiple epiphyseal dypslasia.
Bilateral perthes involvement requires this.
Skeletal survey to rule out MED.
Waldenstrom classification stages (4).
- Initial
- Fragmentation
- Reossification
- Healed or reossified
Herring or lateral pillar classification is performed in this stage of Perthes.
Fragmentation stage
Most important factor in treating Perthes.
Maintaining sphericity of femoral head.
Prophylactic pinning of contralateral hip indicated in these patients (3).
- Endocrinopathy
- Young (<10 years of age)
- Open triradiate cartilage
SCFE occurs in this physeal zone.
Hypertrophic zone.
The SCFE Loder classification is based on this.
Ability of patient to bear weight.
Recommended treatment for stable and unstable SCFE.
In situ pinning.
Proximal femoral focal deficiency is assoicated with these conditions (2).
- Coxa vara
2. Fibular hemimelia
In PFFD the percentage of shortening remains ____ during growth.
Constant.
In general, treatment of PFFD is dependent on this.
Femoral length (>50% lengthening +/- contralateral epiphysiodesis; <50% foot amputation and prosthesis).
Best way to evaluate leg length discrepancy with knee flexion contracture.
Lateral CT scanography.
Distal femur growth per year.
9mm.
Proximal tibia growth per year.
6mm.
Proximal femur growth per year.
3mm
Physiologic genu varum evolves to genu valgum by this age.
2.5 years
Most common cause of abnormal genu varum between age 0-4 years.
Infantile Blount’s disease.
Abnormal genu varum threshold in age 0-4 years.
Metaphyseal-diaphyseal angle of more than 16 degrees.
Treatment of stage I or II Blounts disease in patients younger than 3 years.
Bracing.
Treatment of stage II if patient is older than 3 years and stage III Blounts.
Proximal osteotomy to overcorrect deformity.
Which is more often unilateral? Infantile or adolescent Blounts.
Adolescent.
Most characteristic radiographic finding of adolescent Blounts.
Widening of the proximal medial physeal plate.
Initial treatment of adolescent Blounts when growth remains.
Lateral tibia and fibula hemiepiphysiodesis.
Up to ____ degrees of genu valgum is common in children 2-6 years of age.
15 degrees
Anteromedial tibial bowing is most commonly caused by this.
Fibula hemimelia.
Initial treatment of anterolateral tibial bowing.
Total contact brace.
Preferred amputation in patient with anterolateral tibial bowing.
Syme.
Inheritance pattern of tibial hemimelia.
Autosomal dominant.
Most common osteochondritis dessicans lesion location in the knee.
Lateral aspect of medial femoral condyle.
Sequence of clubfoot correction.
- Cavus
- Adductus
- Varus
- Equinus
Possible deformity after clubfoot surgery.
Dorsal bunion.
Common deformity after clubfoot treatment.
Dynamic supination.
Metatarsus adductus with valgus hindfoot.
Skewfoot.
Leading cause of peroneal spastic flatfoot.
Tarsal coalition.
Most common tarsal coalitions (2).
- Calcaneonavicular
2. Subtalar colation
For calcaneonavicular coaltions the origin of this muscle may be placed into space after coalition resection.
Extensor digitorum brevis.
Osteonecrosis of the tarsal navicular bone.
Kohler disease.
Most useful radiographic views for accessory navicular.
External oblique views.
