Pediatrics Flashcards

1
Q

Abnormal development.

A

Dysplasia.

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2
Q

Achondroplasia defect.

A

FGFR3

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3
Q

Hyprochondroplasia defect.

A

FGFR3

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4
Q

Thanatophoric dysplasia defect.

A

FGFR3

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5
Q

Pseudoachondroplasia defect.

A

COMP

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6
Q

Multiple epiphyseal dysplasia type I defect.

A

COMP

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7
Q

Multiple epiphyseal dysplasia type II defect.

A

Collagen type IX.

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8
Q

Diastrophic dysplasia defect.

A

Sulfate transporter gene.

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9
Q

Craniosynostosis defect.

A

FGFR2

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10
Q

Cleidocranial dysplasia defect.

A

CBFA1

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11
Q

Hypophosphatemic ricks defect.

A

PEX

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12
Q

Marfan syndrome genetic defect.

A

Fibrillin-1

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13
Q

Osteogenesis imperfecta defect.

A

Collagen type I

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14
Q

Duchenne muscular dystrophy genetic defect.

A

Dystrophin

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15
Q

Charcot-Marie-Tooth disease genetic defect.

A

PMP22

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16
Q

Myotonic dystrophy genetic defect.

A

Myotonin.

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17
Q

Friedrich ataxia genetic defect.

A

Frataxin.

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18
Q

Symmetric decrease in both trunk and limb length.

A

Proportionate dwarfism.

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19
Q

Two broad types of disproportionate dwarfism.

A
  1. Short-trunk variety

2. Short-limb variety

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20
Q

Rhizomelic dwarfism.

A

Proximal limb short.

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21
Q

Mesomelic dwarfism.

A

Middle limb short.

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22
Q

Acromelic dwarfism.

A

Distal limb short.

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23
Q

Inheritance of achondroplasia.

A

Autosomal dominant

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24
Q

Most cases of achondroplasia are due to ____ mutations.

A

Spontaneous.

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25
Q

Most common form of disproportionate dwarfism.

A

Achondroplasia.

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26
Q

This type of bone formation is affected in achondroplasia.

A

Endochondral.

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27
Q

Frontal bossing, button nose, small nasal bridge, trident hands.

A

Achondroplasia.

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28
Q

Most likely issue to cause disability in achondroplasia.

A

Lumbar stenosis.

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29
Q

Spondyloepiphyseal dysplasia must be differentiated from this.

A

Multiple epiphyseal dysplasia.

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30
Q

Distinguishing features of spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia is this.

A

Spine involvement.

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31
Q

Femoral involvement in multiple epiphyseal dysplasia may be confused with this.

A

Perthes disease.

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32
Q

Most common mucopolysaccharidosis.

A

Morquio syndrome.

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33
Q

Mucopolysaccharidosis characterized by keratan sulfate urinary excretion.

A

Morquio syndrome.

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34
Q

C1-2 instability in Morquio syndrome caused by this.

A

Odontoid hypoplasia.

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35
Q

Morquio syndrome inheritance.

A

Autosomal recessive.

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36
Q

Cause of diastrophic dysplasia.

A

Deficiency in sulfate transporter protein.

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37
Q

Characteristic spinal deformity of diastrophic dysplasia.

A

Cervical kyphosis.

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38
Q

Defect in transcription factor for osteocalcin causes this.

A

Cleidocranial dysplasia.

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39
Q

Most seriously spinal manifestation of Down syndrome.

A

Atlantoaxial instability.

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40
Q

45 XO genotype.

A

Turner syndrome.

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41
Q

Female, short stature, webbed neck, lack of sexual development.

A

Turner syndrome.

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42
Q

This anesthetic complication is associated with Turner syndrome.

A

Malignant hyperthermia.

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43
Q

Floppy, hypotonic infant who grows up to be an intellectually impaired, obese adult with an insatiable appetite.

A

Prader-Willi Syndrome

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44
Q

Orthopaedic manifestations of Beckwith-Wiedemann Syndrome (2).

A
  1. Hemihypertrophy

2. Spastic cerebral palsy

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45
Q

Predisposition to ____ tumor with Beckwith-Wiedemann syndrome.

A

Wilms

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46
Q

Decreased amount of Factor VIII.

A

Hemophilia A.

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47
Q

Abnormal factor VIII.

A

von Willebrand disease.

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48
Q

Decreased amount of Factor IX.

A

Hemophilia B.

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49
Q

The most common malignancy of childhood.

A

Leukemia.

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50
Q

The most common form of childhood leukemia.

A

Acute lymphocytic leukemia.

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51
Q

Helps differentiate homocystinuria from Marfan syndrome.

A

Marfan – superior lens dislocation

Homocystinuria – inferior lens dislocation

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52
Q

Opthalmic diagnosis in juvenile idiopathic arthritis.

A

Iridocyclitis.

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53
Q

Three types of birth-related brachial plexus palsies.

A
  1. Erb-Duchenne
  2. Total plexus
  3. Klumpke
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54
Q

Markers of poor prognosis for birth-related brachial plexus palsies (2).

A
  1. Lack of biceps function at 6 months

2. Presence of Horner syndrome

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55
Q

Commonly encountered pediatric “packaging defects” (3).

A
  1. Hip dysplasia
  2. Metatarsus adductus
  3. Congenital muscular torticollis
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56
Q

Passive stretching of congenital muscular torticollis.

A

Rotate infant’s chin to ipsilateral shoulder while tilting the head toward contralateral shoulder.

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57
Q

Treatment of congenital torticollis if persists past 1 year.

A

Z-plasty of sternocleidomastoid muscle.

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58
Q

Periventricular leukomalacia.

A

Cerebral palsy.

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59
Q

In cerebra palsy, constant succession of slow, writhing, involuntary movements.

A

Athetosis.

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60
Q

Persistence of two or more primitive reflexes suggests this.

A

That the child will not be able to ambulate.

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61
Q

Mechanism of action of botulinum toxin.

A

Presynaptic blockade at neuromuscular junction

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62
Q

Duration of botulinum toxin effects.

A

6 months.

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63
Q

The two major pediatric conditions associated with multiple joint contractures.

A
  1. Arthrogryposis

2. Larsen syndrome

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64
Q

Pediatric condition characterized by cutaneous flexor surface webs.

A

Multiple pterygium syndrome.

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65
Q

The myelodysplasia level is based on the _____ functional level.

A

lowest

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66
Q

Defect in vertebral arch with confined cord and meninges.

A

Spina bifida occulta.

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67
Q

Sac without neurla elements protruding through the defect.

A

Meningocele.

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68
Q

Sac with neural elements protruding through the skin.

A

Myelominigocele.

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69
Q

Ambulatory function of L1 myelomeningocele.

A

Nonfunctional.

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70
Q

Ambulatory function of L2 myelomeningocele.

A

Nonfunctional.

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71
Q

Ambulatory function of L3 myelomeningocele.

A

Household ambulator.

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72
Q

Ambulatory function of L4 myelomeningocele.

A

Household ambulator, some community.

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73
Q

Ambulatory function of L5 myelomeningocele.

A

Community ambulator.

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74
Q

Ambulatory function of S1 myelomeningocele.

A

Near normal.

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75
Q

Most common comorbid condition with spina bifida.

A

Type II Arnold-Chiari malformation.

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76
Q

Containment of hip dislocations in patients with myelodysplasia is essential in these patients.

A

Those with functioning quadriceps.

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77
Q

Rapid curve progression in myelomeningocele may be associated with these (3).

A
  1. Tethered cord
  2. Hydrocephalus
  3. Syringomyelia
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78
Q

In Duchenne muscular dystrophy, this lab value is markedly elevated.

A

Creatine phosphokinase

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79
Q

This protein is absent in Duchenne muscular dystrophy

A

Dystrophin.

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80
Q

This type of muscle weakness in Duchenne muscular dystrophy.

A

Proximal.

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81
Q

Inheritance pattern of Duchenne muscular dystrophy.

A

X-linked recessive.

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82
Q

Inheritance pattern of Becker muscular dystrophy.

A

X-linked recessive.

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83
Q

Inheritance pattern of facioscapulohumeral muscular dystrophy.

A

Autosomal dominant.

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84
Q

Inheritance pattern of limb-girdle muscular dystrophy.

A

Autosomal recessive.

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85
Q

Inheritance of Friedreich ataxia.

A

Autosomal recessive.

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86
Q

Most severely affected muscles in CMT (3).

A
  1. Tib ant
  2. Peroneus longus
  3. Peroneus brevis
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87
Q

This deformity occurs first during development of pes cavus in CMT.

A

Plantar flexion of the first ray.

88
Q

This disease is caused by competitive inhibition of acetylcholine receptors at the motor end plate by antibodies produced in the thymus gland.

A

Myasthenia gravis.

89
Q

Poliomyelitis causes destruction of these cells.

A

Anterior horn cells in spinal cord and brainstem motor nuclei.

90
Q

Spinal muscular atrophy associated with this gene.

A

Survival motor neuron gene (SMN).

91
Q

Eponym for spinal muscular atrophy.

A

Werdnig-Hoffman disease.

92
Q

Overgrowth syndromes (3).

A
  1. Proteus syndrome
  2. Klippel-Trenaunay syndrome
  3. Hemihypertrophy
93
Q

Infatile idiopathic scoliosis.

A

Onset before 3 years of age.

94
Q

Juvenile idiopathic scoliosis.

A

Onset between 3-10 years of age.

95
Q

Adolescent idiopathic scoliosis.

A

Onset after 10 years of age.

96
Q

Scioliometer threshold for referral.

A

7 degrees.

97
Q

Screening test for adolescent idiopathic scoliosis.

A

Adams forward bend test.

98
Q

Thoracic hypokyphosis is associated with this type of scoliososis.

A

Idiopathic.

99
Q

Adolescent idiopathic curves are generally this side.

A

Right-sided.

100
Q

Indications for observation with AIS (2).

A
  1. Skeletally immature (Risser 0, 1) with curve less than 25 deg.
  2. Skeletally mature (Risser 2, higher) with curve less than 45 deg
101
Q

Types of braces with AIS (2) with frequency.

A
  1. Milwaukee brace (uncommon)

2. Boston underarm brace (common)

102
Q

Lenke Type I definition.

A

Single thoracic curve.

103
Q

Lenke Type II definition.

A

Double thoracic curve.

104
Q

Lenke Type III definition.

A

Double major curve.

105
Q

Lenke Type IV definition.

A

Triple major curve.

106
Q

Lenke Type V definition.

A

Single thoracolumbar/lumbar curve.

107
Q

Lenke Type VI definition.

A

Primary thoracolumbar/lumbar curve and compensatory thoracic curve.

108
Q

Definition of structural curves (2).

A
  1. Largest curve

2. Additional curves that fail to bend to less than 25 deg

109
Q

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.

A

The center sacral vertical line (CSVL).

110
Q

Lenke lumbar modifier type A.

A

CSVL between pedicles of apical vertebra.

111
Q

Lenke lumbar modifier type B.

A

CSVL touches between concave pedicle and lateral body.

112
Q

Lenke lumbar modifier type C.

A

CSVL is medial to apical vertebra.

113
Q

Most proximal vertebra that is most closely bisected by the CSVL.

A

Stable vertebra.

114
Q

Most tilted vertebra.

A

End vertebra.

115
Q

For posterior spinal fusion in AIS, the level of proximal fusion.

A

Proximal end vertebra.

116
Q

For posterior spinal fusion in AIS, the level of distal fusion for Lenke types I and II.

A

Last vertebra touched by CSVL.

117
Q

For posterior spinal fusion in AIS, the level of distal fusion for Lenke types III to VI.

A

Distal end vertebra.

118
Q

Treatment for infantile idiopathic scoliosis (3).

A
  1. Mehta casting
  2. Bracing
  3. Growing rod construct
119
Q

Incidence of neuraxial abnormalities with infantile idiopathic scoliosis.

A

20%

120
Q

Incidence of spinal cord abnormality in juvenile idiopathic scoliosis.

A

25%

121
Q

Characteristic shape of neuromuscular scoliosis.

A

Long, sweeping C-shaped.

122
Q

Indication for spinal fusion in Duchenne muscular dystrophy.

A

Curve exceeding 25-30 deg.

123
Q

Basic types of developmental defects in congenital scoliosis (3).

A
  1. Failure of segmentation
  2. Failure of formation
  3. Mixed
124
Q

Most aggressive form of congenital scoliosis.

A

Unilateral unsegmented bar with contralateral hemivertebra.

125
Q

Prevalence of genitourinary defects in congenital scoliosis.

A

25%

126
Q

Prevalence of cardiac anomalies in congenital scoliosis.

A

10%

127
Q

Congential scoliosis with best prognosis.

A

Block vertebra.

128
Q

Which type of hemivertebra confers better prognosis, incarcerated or unincercerated?

A

Incarcerated.

129
Q

Inheritance pattern of neurofibromatosis.

A

Autosomal dominant.

130
Q

Neurofibromatosis is characterized by these (2).

A
  1. Neurofibromas

2. Cafe au lait spots

131
Q

Scoliosis classification in neurofibromatosis (2),

A
  1. Nondystrophic

2. Dystrophic

132
Q

Prognostic factor for impending rapid progression of spinal deformity in neurofibromatosis.

A

Penciling of 3 or more ribs.

133
Q

Fibrous, cartilaginous, or osseous bar creating a longitudinal cleft in the spinal cord.

A

Diastematomyelia.

134
Q

Partial or complete absence of the sacrum and lower lumbar spine.

A

Sacral agenesis.

135
Q

Sacral agenesis is strongly associated with this maternal condition.

A

Diabetes.

136
Q

Earliest radiographic finding of discitis/osteomyelitis.

A

Loss of lumbar lordosis.

137
Q

Stress fracture at the pars interarticularis.

A

Spondylosis.

138
Q

Pediatric forms of spondylosisthesis (2).

A
  1. Lytic

2. Dysplastic

139
Q

Definition of Scheurmann’s kyphosis.

A

Thoracic kyphosis >45 deg with anterior wedging 5 deg or more at 3 sequential vertebra.

140
Q

Indication for bracing in Scheurmann’s kyphosis.

A

Progressive curve Risser 2 or below with kyphotic curvature 50-75 deg.

141
Q

Scheurmann’s kyphosis angle at which surgery is indicated.

A

75 degrees.

142
Q

Abnormalities of multiple cervical segments as a result of failure of normal segmentation or formation of cervical somites.

A

Klippel-Feil syndrome.

143
Q

Children with Klippel-Feil syndrome must avoid these.

A

Contact sports.

144
Q

Subluxation of C2 on C3 of up to 40% or 4mm.

A

Pseudosubluxation.

145
Q

Treatment of rotatory atlantoaxial subluxation due to retropharyngeal inflammation.

A

Early traction and bracing.

146
Q

Eponym of rotatory atlantoaxial subluxation due to retropharyngeal inflammation.

A

Grisel disease.

147
Q

In cervical pseudosubluxation this line is intact with flexion and extension views.

A

Spinolaminar line.

148
Q

Deformity at the base of the skull causes odontoid migration into the foramen magnum.

A

Basilar invagination.

149
Q

Undescended scapula often associated with winging, hypoplasia, and omovertebral connections.

A

Sprengel deformity.

150
Q

Common causes of in-toeing (3).

A
  1. Metatarsus adductus
  2. Internal tibial torsion
  3. Femoral anteversion
151
Q

Most common risk factors for DDH (4).

A
  1. Breech positioning
  2. Positive family history
  3. Female sex
  4. Firstborn child
152
Q

Obstructions to obtaining concentric reduction in DDH (5).

A
  1. Iliopsoas tendon
  2. Pulvinar
  3. Contracted inferomedial hip capsule
  4. Transverse acetabular ligament
  5. Inverted labrum
153
Q

Elevation and abduction of femur reduces a dislocated hip.

A

Ortalani positive.

154
Q

Adducted and depression of femur dislocates a dislocatable hip.

A

Barlow positive.

155
Q

Positive Galeazzi sign.

A

Foreshortened thigh on side of hip dislocation.

156
Q

Ossification of the femur heads occurs at this time.

A

4-6 months of age.

157
Q

Normal hip ultrasound for DDH eval (2).

A
  1. Alpha angle greater than 60 deg

2. Femoral head bisected by ilial line

158
Q

X-rays are used to evaluate DDH at this age.

A

After 3 months of age.

159
Q

Normal acetabular index.

A

Less than 25 degrees.

160
Q

Ossific nucleus of femoral head normally should be here in relation to Perkins line.

A

Medial.

161
Q

When is the Pavlik harness used to treat DDH.

A

Birth to 6 months.

162
Q

If no reduction with Pavlik harness.

A

Closed reduction, arthrogrpah, spica cast.

163
Q

Treatment of DDH from 6 months to 18 months.

A

Hip arthrography, closed reduction, percutaneous adductor tenotomy, spica casting.

164
Q

Amount of hip flexion for Pavlik.

A

100 deg.

165
Q

Impingement of this artery has been implicated in AVN related with DDH treatment in abduction orthosis.

A

Posterosuperior retinacular branch of medial femoral circumflex artery.

166
Q

When to check hip reduction after starting Pavlik treatment.

A

3 weeks.

167
Q

Standard duration Pavlik treatment.

A

23 hours per day for 6 weeks once reduction achieved. Then additional 6-8 weeks part time.

168
Q

Thorn sign on hip arthrogram indicates this.

A

Normal labral position.

169
Q

Five obstacles to reduction in DDH.

A
  1. Transverse acetabular ligament
  2. Pulvinar
  3. In-folded labrum
  4. Inferior capsule
  5. Psoas tendon
170
Q

Anterior open reduction for DDH has less risk of this.

A

Medial femoral circumflex artery.

171
Q

Medial open reduction of DDH may be done up to this age.

A

12 months.

172
Q

Salvage osteotomies (2).

A
  1. Chiari

2. Shelf

173
Q

Salvage osteotomies require this.

A

Metaplastic tissue (fibrocartilage) development.

174
Q

Percentage of bilateral involvement in Perthes.

A

12-15%.

175
Q

Bilateral Perthes involvement is never this.

A

Simultaneous. Always a time lag.

176
Q

Bilateral Perthes involvement may mimic this.

A

Multiple epiphyseal dypslasia.

177
Q

Bilateral perthes involvement requires this.

A

Skeletal survey to rule out MED.

178
Q

Waldenstrom classification stages (4).

A
  1. Initial
  2. Fragmentation
  3. Reossification
  4. Healed or reossified
179
Q

Herring or lateral pillar classification is performed in this stage of Perthes.

A

Fragmentation stage

180
Q

Most important factor in treating Perthes.

A

Maintaining sphericity of femoral head.

181
Q

Prophylactic pinning of contralateral hip indicated in these patients (3).

A
  1. Endocrinopathy
  2. Young (<10 years of age)
  3. Open triradiate cartilage
182
Q

SCFE occurs in this physeal zone.

A

Hypertrophic zone.

183
Q

The SCFE Loder classification is based on this.

A

Ability of patient to bear weight.

184
Q

Recommended treatment for stable and unstable SCFE.

A

In situ pinning.

185
Q

Proximal femoral focal deficiency is assoicated with these conditions (2).

A
  1. Coxa vara

2. Fibular hemimelia

186
Q

In PFFD the percentage of shortening remains ____ during growth.

A

Constant.

187
Q

In general, treatment of PFFD is dependent on this.

A

Femoral length (>50% lengthening +/- contralateral epiphysiodesis; <50% foot amputation and prosthesis).

188
Q

Best way to evaluate leg length discrepancy with knee flexion contracture.

A

Lateral CT scanography.

189
Q

Distal femur growth per year.

A

9mm.

190
Q

Proximal tibia growth per year.

A

6mm.

191
Q

Proximal femur growth per year.

A

3mm

192
Q

Physiologic genu varum evolves to genu valgum by this age.

A

2.5 years

193
Q

Most common cause of abnormal genu varum between age 0-4 years.

A

Infantile Blount’s disease.

194
Q

Abnormal genu varum threshold in age 0-4 years.

A

Metaphyseal-diaphyseal angle of more than 16 degrees.

195
Q

Treatment of stage I or II Blounts disease in patients younger than 3 years.

A

Bracing.

196
Q

Treatment of stage II if patient is older than 3 years and stage III Blounts.

A

Proximal osteotomy to overcorrect deformity.

197
Q

Which is more often unilateral? Infantile or adolescent Blounts.

A

Adolescent.

198
Q

Most characteristic radiographic finding of adolescent Blounts.

A

Widening of the proximal medial physeal plate.

199
Q

Initial treatment of adolescent Blounts when growth remains.

A

Lateral tibia and fibula hemiepiphysiodesis.

200
Q

Up to ____ degrees of genu valgum is common in children 2-6 years of age.

A

15 degrees

201
Q

Anteromedial tibial bowing is most commonly caused by this.

A

Fibula hemimelia.

202
Q

Initial treatment of anterolateral tibial bowing.

A

Total contact brace.

203
Q

Preferred amputation in patient with anterolateral tibial bowing.

A

Syme.

204
Q

Inheritance pattern of tibial hemimelia.

A

Autosomal dominant.

205
Q

Most common osteochondritis dessicans lesion location in the knee.

A

Lateral aspect of medial femoral condyle.

206
Q

Sequence of clubfoot correction.

A
  1. Cavus
  2. Adductus
  3. Varus
  4. Equinus
207
Q

Possible deformity after clubfoot surgery.

A

Dorsal bunion.

208
Q

Common deformity after clubfoot treatment.

A

Dynamic supination.

209
Q

Metatarsus adductus with valgus hindfoot.

A

Skewfoot.

210
Q

Leading cause of peroneal spastic flatfoot.

A

Tarsal coalition.

211
Q

Most common tarsal coalitions (2).

A
  1. Calcaneonavicular

2. Subtalar colation

212
Q

For calcaneonavicular coaltions the origin of this muscle may be placed into space after coalition resection.

A

Extensor digitorum brevis.

213
Q

Osteonecrosis of the tarsal navicular bone.

A

Kohler disease.

214
Q

Most useful radiographic views for accessory navicular.

A

External oblique views.

215
Q

Order and age of ossification of pediatric elbow.

A
  1. capitellum 1yr
  2. radial head 3 yrs
  3. medial epicondyle 5 yrs
  4. trochlea 7 yrs
  5. olecranon 9 yrs
  6. lateral epicondyle 11 yrs