Miller's Review Peds Flashcards
Ortho Peds
1
Q
Type of femur fracture most common in NAT in non-ambulator patients
A
Transverse
2
Q
Indications for physeal bar resection
A
> 2cm growth, <50% physeal involvement
3
Q
Blocks to closed reduction of proximal humerus fractures
A
Biceps, deltoid, periosteum
4
Q
Acceptable parameters for proximal humerus fractures in peds
A
<5 = 70 deg, 100% displaced
5
Q
Humeral shaft fracture in patient <3
A
Think NAT
6
Q
Common malunion in supracondylar humerus fractures
A
Cubitus varus and extension
7
Q
Other injuries in patients with supracondylar humerus and ipsilateral distal radius fracture.
A
Increased incidence of nerve injury and acute compartment syndrome
8
Q
X-ray needed to evaluate lateral conylde fractures
A
Internal rotation oblique
9
Q
Malunion complications in lateral condyle fractures
A
Cubitus valgus with tardy ulnar nerve palsy
10
Q
Associated injury in medial epicondyle fractures
A
Elbow dislocation
11
Q
X-ray needed in medial epicondyle fracture
A
Distal humeral axial view
12
Q
How to identify a transphyseal distal humeral fracture on x-ray
A
Looks like an elbow dislocation; however, the radius follows the capitellum
13
Q
Most common displacement of transphyseal distal humerus fractures
A
Posteriomedial displacement, late complications include cubitus varus and AVN
14
Q
Techniques to treat proximal radius fractures
A
Closed reduction (traction, varus in supination and extension, flex and pronate)
15
Q
Forearm fracture acceptable angulation by age
A
<9 = 15 degrees angulation, 45 rotation
16
Q
Malunion risk in pediatric acetabular and pelvis fractures
A
Early triradiate cartilage closure and acetabular dysplasia
17
Q
Next step after closed reduction of pediatric hip dislocation
A
MRI to confirm reduction
18
Q
Age base approach to pediatric femoral shaft fractures
A
<6 mos = Pavlik
19
Q
Indications for flexible IMN of pediatric femur fractures
A
Age 5-11, wt <50kg
20
Q
How does the proximal tibial physis close
A
Posterior -> Anterior and Medial -> Lateral
21
Q
Complications of tibial spine fractures
A
Late anterior instability in stiffness
22
Q
Distal tibia physeal gap that increases risk of physeal arrest
A
> 3mm, ORIF does not decrease the risk though
23
Q
Acceptable displacement in Tillaux fractures
A
2.5mm
24
Q
Order of distal tibia physeal closure
A
Central -> medial -> lateral
25
Triplane fracture
SH III on AP, SH II on lateral = SH IV
26
Halo pins in peds
6-8 pins at 2-4 lbs of torque
27
Diagnosis of atolantooccipital dissociation
BDI >12mm, Powers ratio >1
28
Most common type of pediatric odontoid fracture
Right at the dentocentral synchondrosis, this normally fuses around age 6. Treatment is with halo immobilization.
29
Management of pediatric thoracolumbar flexion distraction injuries
Assess for intra-abdominal injury (50%), most often operative stabilization for unstable bony or ligamentous injury, may consider extension bracing if stable bony injury
30
Most common mechanism of pediatric osteomyelitis
Hematogenous spread at the sluggish flow area in the metaphysis
31
Common osteomyelitis organisms in kids
S. aureus most common, GBS in neonates, K. Kingaei in delayed presentation
32
Involucrum
New bone formed around the infection
33
Sequestrum
Necrotic avascular bone that can be nidus for persistent infection
34
Risk of DVT in kids?
MRSA osteomyelitis with PVL gene
35
Joints commonly infected in kids
Those with intra-articular metaphysis: shoulder, elbow, hip and ankle. In other joints where the physis is extra-articular, it seems to be protective of a septic joint.
36
Kocher criteria
NWB, ESR >40, WBC >12k, fever >38.5.
37
Lyme symptoms other than erythema migrans
CN VI and VII palsy, migratory arthritis
38
Lyme tx
Doxy if >8 years old, amoxicillin if younger
39
Bug involved in foot puncture wounds
Pseudomonas
40
Concern for pediatric patient with back pain and loss of lordosis on plain films
Discitis
41
Chronic recurrent multifocal osteomyelitis
Multiple episodes of osteomyelitis at different sites, nothing ever grows on culture, associated with palmar/plantar pustules. Rheumatologic condition treated with NSAIDs.
42
Diagnostic criteria for cerebral palsy
Non-progressive upper motor neuron disorder onset before age two
43
Potential causes of cerebral palsy
Prematurity, intrauterine factors, perinatal infections, anoxic brain injury and meningitis
44
MRI findings of cerebral palsy
Periventricular leukomalacia
45
GMFCS classification
I: no assistive device needed. II: brace or assistive device needed III: ambulatory but use braces or walker IV: wheelchair dependent V: completely dependent
46
SEMLS in CP
Single Event Multi Level Surgery to limit trips to OR
47
Treatment of toe walking in CP
AFO, casting +/- botox
48
Treatment of crouch gait in CP
Release of tight iliopsoas and hamstring lengthening
49
Treatment of stiff knee gait in CP
Hamstring lengthening and rectus transfer
50
CP hips at risk for dislocation
Abduction < 45 degrees and uncovered femoral head
51
Tendon release for CP hip subluxation
Adductor and IP release
52
Late bone reconstruction for CP hip subluxation
Proximal femur VDRO +/- acetabulum osteotomy
53
Treatment for late recognized CP hip dislocation
Leave untreated, abduction osteotomy to take misshapen femoral head further from the pelvis and girdlestone procedure
54
Surgical treatment of equinovalgus foot in CP
Due to spastic peroneals
55
Surgical treatment of equinovarus foot in CP
Due to overpull of PT +/- AT
56
Cause of arthrogryposis
Decrease in anterior horn cells, non-progressive contractures in multiple joints
57
Arthrogryposis in upper extremities? Lower extremities?
Shoulder AD/IR, elbow extension, wrist flexion/ulnar deviation
58
Arthrogryposis UE treatment
Manipulation and casting -> posterior elbow release, can do osteotomies age 4-8, if bilateral put one hand up for eating and one down for perineal hygiene
59
Arthrogryposis LE treatment
Correct knees 1st to allow flexion needed for harness/brace/casting, then reduce hip if unilateral, cast for stiff and plantigrade foot
60
Cause of spina bifida, diagnosis?
Incomplete neural tube closure, can be secondary to low folate, valproic acid use, carbamazepine, maternal hyperthemia and maternal DM. Diagnosed with elevated maternal serum AFP
61
How to determine level of function in spina bifida
Lowest motor level, need L4 for community ambulation
62
Allergy in spina bifida patients
IgE mediated latex allergy
63
Other conditions to treat in spina bifida
Hip dislocations, knee flexion contracture, clubfoot, equinus, tethered cord
64
Treatment of hip dislocations in spina bifida
Often treated non-op unless they’re a low sacral level because there is a high rate of recurrence
65
Spina bifida patient with infected appearing leg, next step?
X-ray, fractures often present like infection in these patients
66
Things to check if acute change in function in spina bifida patient
Shunt malfunction, hydrocephalus, Arnold Chiari malformation, tethered cord
67
No of spina bifida pts with scoliosis?
100%, thoracic, high level of complications when treated with surgery
68
Patient has imperforate anus, GU and LE deformities with progressive kyphosis. Mother has history of diabetes. Why might this patient have a motor deficit?
Sacral agenesis is associated with maternal diabetes. Typically protective sensation remains intact.
69
Treatment of sacral agenesis
Spinal stabilization of types III and IV (no sacrum)
70
Genetic cause of Duchenne and Becher muscular dystrophy
XLR mutation in dystrophin gene results in progressive loss of motor proximal strength.
71
Indications for spine fusion in muscular dystrophy
20-25 degree curve
72
Medical management of muscular dystrophy
Corticosteroids slow progression
73
Fascioscapulohumeral muscular dystrophy
AD, normal CK, scapular winging, unable to whistle given weakness and paralysis of facial muscles
74
Diagnosis in patient with fever, muscle aches, elevated CPK and ESR with muscle biopsy showing inflammation. Treatment?
Polymyositis and dermatomyositis. Treat with anti-TNF medications for flares.
75
Staggering wide based gait, cardiomyopathy, cavus foot and die in their 50’s. Diagnosis?
AR Freidrich ataxia from GAA repeat in frataxin gene that causes spinocerebellar degeneration and degeneration in posterior columns of spinal cord
76
Cause of CMT
AD mutation in PMP 22 gene on chromosome 17
77
Cause of pes cavus in CMT. Nonop management?
TA and PB weak. PL flexes 1st ray and PT pulls fut into varus. Treat with lateral post and depression for plantarflexed 1st ray.
78
Op management for pes cavus in CMT?
Plantarfascia release and 1st MT dorsiflexion osteotomy
79
Dejerine-Sottas
AR hypertrophic neuropathy of infancy with delayed ambulation, cavus feet, stocking/glove dysesthesias
80
Riley Day syndrome
AR Ashkenazi Jewish disoerder with dysphagia, sweating, postural hypotension, sensory loss in infancy
81
Myasthenia gravis treatment
Cyclosporine, anti-Ach-ase agents or thymectomy to minimize Ab produced by the thymus that competitively inhibit Ach receptors
82
Treatment of post-polio syndrome
Limited exercise with large periods of rest (sub-exhaustion)
83
Types of SMA
All are AR mutation in SMN (survival motor neuron) causing lack of SMN-1 protein
84
Metaphyseal diaphyseal angle diagnostic of Blounts disease
>16 degrees
85
Infantile Blount’s
Age < 4, seen more in early walkers and obese children
86
Deformities seen in Blount’s
Varus proximal tibia and internal tibial torsion
87
Treatment algorithm in Blount’s
HK AFO in age <3 and stage I-II.
88
Treatment of adolescent blount disease
Typically unilateral in morbidly obese patients. Treat with hemiepiphysiodesis or osteotomy. Bracing is not effective in this age group.
89
Causes of in-toeing
1) Femoral anteversion, usually resolves, consider derotation osteotomy if lack of 10 deg ER
90
Miserable malalignment syndrome
Femoral anteversion, external tibial torsion and patellofemoral syndrome
91
Causes of out-toeing
1) External tibial torsion, thigh foot angle > 40 deg, may consider supramalleolar osteotomy if age > 8-10, watch closely because it can get worse with growth
92
Test age for female growth cessation and male growth cessation
Females = 14, males = 16
93
Growth/year at lower extremity physes
Proximal femur = 3, distal femur = 9, proximal tibia = 6, distal tibia = 5
94
Limb length discrepancy treatment.
<2cm = observe
95
Posteromedial tibial bowing association
Associated with calcaneovalgus foot, both the foot and bow resolve on their own. May need limgb lengthening 3-4cm later on.
96
Anteromedial tibial bowing
Associated with fibular hemimelia, PFFD and equinovarus foot
97
Anterolateral tibial bowing
Pseudoarthrosis of the tibia seen in patients with neurofibromatosis. Try bracing to prevent fracture from occurring because fixing the fracture is very difficult.
98
Gene involved in fibular hemimelia
Sonic hedge hog gene
99
Deformity seen in fibular hemimelia
LLD, equinovalgus foot, ball and socket ankle, tarsal coalition
100
What determines treatment in fibular hemimelia
3 or fewer rays = amputation. 4-5 rays preserved limb lengthening and epiphysiodesis
101
Tibial hemimelia associations
AD, associated with lobster claw hand, equinovarus foot
102
Treatment of tibial hemimelia
Depends on quad function, knee disarticulation or BKA w/tib-fib synostosis
103
Etiologies of clubfoot
Idiopathic (PITX-1 gene), syndromic
104
Deformities associated with clubfoot
Limb length discrepancy, decreased musculature and deficient tibialis anterior
105
X-ray findings in clubfoot
Talocalcaneal parallelism with talocalcaneal angle less than 35 degrees on lateral and 20 on AP
106
Series of casts in the Ponseti method
1st cast corrects cavus, subsequent casts correct adductus and varus, then finally correct equinus with TAL
107
Risk for recurrent clubfoot
Syndromic type and noncompliance with boot/bar bracing up to age of 3
108
Residual dynamic deformity with clubfoot
Supination from tibialis anterior, treat with transfer of TA
109
How does surgical posteromedial release compare with the Ponseti method
Surgery makes their feet more stiff with worse outcomes
110
Etiologies of congenital vertical talus
50% associated with syndromes, spina bifida and chromosomal abnormalities
111
X-ray findings in congenital vertical talus
The talus doesn’t line up with the 1st metatarsal or reduce to the navicular on plantarflexion views
112
Management of congenital vertical talus
Manipulation and casting, perc TAL, talonavicular capsulotomy and TN pinning once the foot is in a better position from casting
113
Management of calcaneovalgus foot
Stretching only, can be associated with posteromedial tibial bowing needing limb length correction later on
114
Differentiate calcaneovalgus foot from congenital vertical talus
In calcaneovalgus foot there is excessive foot dorsiflexion but no dislocation of the talonavicular joint
115
Management of metatarsus adductus
Check for DDH (associated), 85% resolve spontaneously, may treat with stretching and casting. Lateral closing wedge and medial midfoot opening wedge osteotomy reserved for persistent deformity after age 5
116
Syndromes associated with tarsal coalition
FGFR-related craniosynostosis, there are also familial AD inheritance of coalitions
117
Treatment of talocalcaneal coalitions
Resection and interposition if <50%, arthrodesis if >50%
118
Treatment of Kohler’s disease
Conservative with decreased WB, most resolve
119
Modified Kitner procedure
For accessory navicular, excision and PTT advancement
120
Management of curly toe
Typically because lateral 3 toe flexors are tight, treat with 3-5 flexor tenotomies
121
Management of pediatric pes planus
Conservative management, inserts don’t change the arch, surgical treatment may include lateral column lengthening (Evans) with or without medial column shortening (calcaneo-cuboid-cuneiform osteotomy)
122
Most common scoliosis curve
Right thoracic
123
Value threshold for referral in Adam’s forward bend test?
7 degree rotational deformity
124
Risser score
Physis divided into quarters, fuses from front to back, each quarter is a stage. 1= 25%, 2= 50%, 3 = 75%, 4 = 100%, 5 = fused
125
Indications for MRI in scoliosis
Left thoracic curves, apical kyphosis (AIS typically hypokyphotic with apical lordosis), pain, rapid curve progression, neurologic signs, congenital abnormalities, age<10
126
When does peak height velocity occur?
Prior to Risser 1 and menarche
127
Factors affecting scoliosis curve progression in adolescents
Peak growth velocity, skeletal maturity, curve >20, curve type (thoracic and double more likely to progress)
128
Factors that predict scoliosis progression after skeletal maturity
Thoracic curve >50, lumbar curve >30, typically progress 1-2 degrees per year
129
Treatment algorithm for AIS
<25 and skeletally immature, observe
130
Indications for anterior and posterior fusion in AIS
Less than 10 to limit crankshaft phenomenon (shown below, growth pivots around fusion mass) and sometimes in curves >75
131
Treatment for SMA syndrome after fusion for scoliosis
The SMA compresses the 1st/2nd segments of the duodenum between it and the aorta, treatment is NG tube
132
Definition of early onset scoliosis
Onset <10 years old
133
Typical curve properties seen in early onset scoliosis that are different from AIS
Left thoracic, male predominance
134
Risk of curve progression in early onset scoliosis
RVAD > 20 degrees
135
Phase I and phase II ribs
Phase I = no overlap on convex side of curve, these are more likely to resolve. Phase II = overlap of rib on convex side of curve, more likely to progress
136
Treatment algorithm in infantile idiopathic scoliosis
<20 deg curve, RVAD <20 = observe, 3 mo f/u
137
Effectiveness of casting in infantile idiopathic scoliosis
Rule of 1/3’s, 1/3 correct, 1/3 stabilize, 1/3 get worse
138
Congenital spine deformity that is a failure of segmentation
Bar
139
Congenital spine deformity that is a failure of formation
Hemivertebrae
140
Conditions associated with congenital spine deformity
GU in 25%, cardiac in 10%, dysraphism in 25%
141
Risk of family transmission in congenital spine deformity
1%
142
Highest risk of curve progression in congenital scoliosis
Bar on one side, hemivertebra on the other, progression is near 100%
143
Algorithm for treatment of congenital scoliosis
Pre-op MRI, surgery if progression >10 degrees, usually front/back fusion, hemivertebrectomy if large oblique take off
144
Age to consider growing rod construct in scoliosis
Up to age 8 because alveoli tend to grow and expand up to this age and you don’t want to restrict lung growth by thoracic insufficiency from early fusion
145
Congenital spine abnormality with highest risk of neurologic compromise
Congenital kyphosis
146
Most common site of skeletal involvement in neurofibromatosis
Spine
147
Types of scoliosis seen in neurofibromatosis
Non-dystrophic (like AIS) and dystrophic (vertebral scalloping, enlarged foramen, penciling of ribs, short segment, sharp curve and kyphoscoliosis)
148
Treatment of scoliosis in neurofibromatosis
Non-dystrophic, treat like AIS.
149
Physical exam findings in pediatric spondylolysis
Activity related low back pain, tight hamstrings (most common)
150
Most sensitive test for pediatric spondylolysis
SPECT
151
Management of spondylolysis
Limit activity and brace. If non-op management fails consider repair vs fusion
152
Etiologies for spondylolisthesis
Dysplastic, isthmic/lytic, degenerative, traumatic and pathologic
153
Management of pediatric spondylolisthesis
Fusion for:
154
Most common complication following high grade spondylolisthesis reduction at L5-S1
L5 nerve root injury
155
Scheuermann kyphosis definition
>5 deg wedging in 3 consecutive vertebrae, disc narrowing, endplate irregularities and Schmorl’s nodes
156
Management of Scheuermann kyphosis
Mostly non-op, surgery for curves >65-80 degrees
157
Klippel-Feil syndrome triad
Low hairline, web neck and limited cervical ROM. X-rays will show abnormal cervical segmentation
158
Conditions associated with Klippel-Feil syndrome
Sprengel’s, congenital scoliosis, cardiac and renal abnormalities
159
Management of Klippel-Feil syndrome
Conservative, avoid collision sports
160
Indication for fusion in atlanto-axial instability
5mm, 10mm if Down’s Syndrome
161
Diagnosis and treatment?
Os odontoideum with C1-C2 instability. Confirm on MRI, if odontoid compresses cord then proceed to C1-C2 fusion.
162
C1-C2 rotatory subluxation treatment algorithm
NSAID, benzo and collar for 2-3 weeks -> Halter traction -> halo vs C1-C2 fusion
163
Diagnosis in a child less than 8 years old?
Pseudosubluxation. The facet orientation in kids <8 is more horizontal and you’ll see subluxation with c-spine flexion. Line drawn is Schwischuk’s line, note how the spinolaminar line of C1 and C3 intersect in the same place as the spinolaminar line of C2
164
Torticollis work up
Palpable mass = SCM. If no palpable mass, get an x-ray to rule out other disorders.
165
Risk factors for DDH
Breech (most important), first born, female, +FHx
166
Conditions associated with DDH
Torticollis and metatarsus adductus
167
Barlow and Ortolani tests
Ortolonai = hip is out and reducible. Barlow = hip is in and dislocatable
168
Name the lines
A = Perkin’s, B = acetabular index, C = Hilgrenreiner’s, D = nothing, E = Shenton’s
169
DDH management birth to 6 months
Pavlik harness, check on u/s at 3 weeks to make sure its reduced, if not, convert to arthrogram, closed reduction and abduction brace vs. spica cast
170
How do you adjust a Pavlik harness
Anterior straps = flexion. Posterior straps = abduction.
171
Pavlik disease
Posterior acetabulum deficiency from prolonged subluxation in Pavlik harness
172
DDH management 6-12 months
Arthrogram, closed vs open reduction and spica casting
173
What is indicated by the red arrow
This child had an arthrogram that shows a superolateral filling defect, indicated an inverted limbus blocking the closed reduction
174
Obstructions to hip reduction in DDH
TAL, pulvinar, inferomedial capsule, iliopsoas tendon, inverted limbus
175
DDH management >12-18 months
Likely open reduction +/- shortening femoral osteotomy to prevent AVN and correct excessive anteversion
176
Up to what age is an isolated femoral osteotomy appropriate in DDH without performing a concomitant pelvic osteotomy
4
177
DDH with bilateral dislocation over 6 years old treatment?
Leave them alone, non-op, can be well tolerated
178
DDH with unilateral hip dislocation over 8 years old treatment?
Non-op, there is minimal remodeling capacity of the acetabulum after age 8
179
Acetabular index indicating hip dysplasia
>30-35 degrees
180
Early treatment of hip dysplasia
Abduction brace
181
Differences between Salter, triple, PAO and shelf osteotomies?
Salter: hinges on pubic symphysis
182
Diagnosis and treatment?
Congenital coxa vara, noted the inverted Y sign and Hilgenreiner-Physeal line > 25 degrees.
183
How to differentiate bilateral Perthes from MED?
Perthes with have femoral head collapse in different stages and at different times. MED will be symmetric (shown)
184
Poor prognosis for Perthes
Onset 6 years old or later and involving entire femoral head
185
Lateral pillar classification for Perthes
A = no hight loss, B = 50%, B/C = lateral pillar narrowed 2-3mm or poorly ossified with 50% height C= >50% height loss
186
Perthes treatment
Age >8, bone age >6 and pillar A: abduction bracing to contain the femoral head, crutches to offload and therapy to preserve ROM
187
Southwick classification
Slip angle < 30 = mild, 30-50 = moderate, >50 = severe
188
Stable vs unstable SCFE
Stable = ambulatory (AVN risk <10%), unstable = unable to walk, AVN risk much higher if unstable
189
Indications for bilateral pinning in SCFE
Age <10, endocrine etiology or open tri-radiate cartilage
190
Associated conditions with PFFD
50% have fibular hemimelia
191
Gene involved in PFFD
Sonic hedge-hog
192
1 year old with bulky thigh, externally rotated femur and coxa vara on radiographs. What else should you look for on exam? Treatment?
This patient has congenitally short femur. The majority of these patients will have no ACL. You can lengthen them up to 30%.
193
Why are disarticulations performed in peds but not so much in adults?
To limit overgrowth seen in kids after amputation (transmetaphyseal overgrowth > diaphyseal).
194
When to fit kids for prosthetics
UE = 6 months (when sitting), LE =12 months (when walking)
195
Treatment of congenital patella dislocation
Large open realignment procedure with semitendinosus autograft check rein
196
Management of pediatric popliteal cysts
Typically not related to a meniscal tear and resolved with observation
197
Genetic pathways that stimulate normal limb bud development
Homeobox (HOX) and sonic hedgehog genes trigger limb bud formation around 6-8 weeks
198
Primary vs secondary ossification center
Primary = present at birth. Secondary = develops after birth.
199
Zones of the physis
Resting
200
FGFR3 mutation
Achondroplasia, rhizomelic dwarfism (proximal segment shorter than the distal segment), gene on Chr 4p16
201
Disproportionate types of dwarfism
Short trunk (Kniest, SED) and short limb (Achondroplasia, diastrophic dysplasia)
202
Proportionate types of dwarfism
Mucopolysaccharidoses, cleidocranial dysplasia, MED
203
Abnormalities affecting primary ossification center
Primary = present at birth = typically diaphyseal defect
204
Cleidocranial dysplasia mutation
AD mutation CBFA1 on Chr 6p21 causes mutation in transcription factor for osteocalcin and prevents osteoblast differentiation.
205
Other conditions associated with cleidocranial dysplasia
Coxa vara, may need valgus osteotomy if neck shaft angle >100
206
Genetic mutation in this disorder?
Rose bud hand seen in Apert’s syndrome. Mutation is FGFR2 causing hand/foot syndactyly and cranial synostosis.
207
Dysplasias affecting secondary ossification centers
Secondary ossification = after birth = typically epiphyseal
208
Genetic mutation in this disorder?
Note the valgus deformity and irregular bilateral epiphyses, this is MED. They’ll have mild disproportionate dwarfism , are prone to early osteoarthritis and do not have spine involvement (SED).
209
Genetic mutation in this disorder?
Note the tongue like projections from the vertebral body. This is SED. Its associated with odontoid hypoplasia (shown), pectus carinatum, kyphosis, hip flexion contractures and equinovarus foot.
210
Genetic mutation in this disorder?
This is diastrophic dysplasia with hitchhikers thumb and cauliflower ear. Associated conditions include club feet, dramatic kyphosis (shown, needs urgent tx), scoliosis, rhizomelic dwarfism, fused PIP joints.
211
Zone of physis affected in Achondroplasia
AD mutation in FGFR-3 resulting in QUANTITATIVE defect of collagen in proliferative zone
212
Spine findings in achondroplasia
Narrow foramen magnum and short/narrow pedicles that can lead to spinal stenosis. Infants have thoracolumbar kyphosis that usually resolves.
213
Diagnosis?
Achondroplasia has a champagne glass outlet view of the pelvis
214
MPS with accumulation of dermatan sulfate
Hurler’s syndrome, AR defect in alpha-L-iduronidase. Dermatan sulfate accumulation results in CNS toxicity and mental retardation. Treat with bone marrow transplant and enzyme replacement.
215
MPS with accumulation of heparan sulfate
San Filippo’s, AR, accumulation of heparan sulfate leads to mental retardation, treat with marrow transplant
216
MPS with accumulation of keratin sulfate
Morquio’s, AR mutation resulting in accumulation of keratin sulfate. Associated conditions include genu valgum, cloudy corneas, normal intellect, coxa vara and bullet shaped metacarpals.
217
Spine findings in Morquio’s
Odontoid hypoplasia
218
Diagnosis and treatment?
Dysplasia Epiphysealis Hemimelica (Trevor’s disease)
219
Genetic defect seen in osteochondromas
EXT (loss of Shh regulation)
220
Physeal zone involved in rickets
Provisional calcified zone in the hypertrophic zone
221
Cause of vitamin D resistant rickets?
XLD. Proximal tubules in kidney unable to reabsorb PO4, Ca normal, PO4 low, Alk Phos elevated
222
Genetic mutation?
Osteogenesis imperfecta is a COL1A2 mutation from Gly substitution on procollagen molecule that leads to abnormal crosslinking and weakened collagen. Physeal osteoblasts do not produce sufficient osteoid in the metaphyseal region.
223
Spine association with OI
Basilar invagination
224
Treatment of OI
IV pamidronate reduces fractures, may need osteotomies and IM implants to reduce fracture rate and deformity
225
Diagnosis and treatment?
Scurvy. Occurs secondary to poor Vit C intake that limits conversion of proline to hydroxyproline. X-rays show lucent metaphyseal lines. Replete vitamin C
226
Cause, diagnosis and treatment?
This is the rugger jersey spine seen in osteopetrosis. This is from an AR mutation on Chr 11q13 resulting in carbonic anhydrase dysfunction.
227
Neurofibromatosis mutation and syndrome
NF1 on Chr 17q21. Café au lait spots, hemihypertrophy, Lisch nodules, scoliosis and anterolateral tibial bowing
228
Marfan’s mutation and syndrome
AD mutation in fibrillin gene (FBN1) on Chr 15q21. Arm span greater than height, superior lens dislocation, mitral valve prolapse, hyperlaxity, scoliosis, dural ectasia (shown), protrusion hips and arachnodactyly.
229
Down’s mutation and syndrome.
Trisomy 21. Hyperlaxity, heart disease, endocrine disorders, premature aging, C1-C2 instability, patellofemoral instability with high recurrence rate
230
Operative indications for C1-C2 instability in Down’s syndrome
>10mm ADI or neurologic symptoms present
231
Larsen mutation and syndrome.
AD or AR mutation in filamin B (cytoskeletal structural protein). They have wide spaced eyes, cleft palate, cervical kyphosis (needs immediate tx because can progress rapidly to myelopathy), scoliosis with posterior element deficient and vertebral body hypoplasia, MULTIPLE JOINT DISLOCATIONS, an accessory calcaneal ossification center and equinovarus or equinovalgus foot deformity.
232
Pediatric patient with Klippel-Feil and limited shoulder abduction
Sprengel’s deformity: failure of scapula to descend to thorax and attached to thorax via omovertebral bone.
233
No hx of birth trauma or NF. Diagnosis?
Congenital pseudoarthrosis of the clavicle secondary to vascular disruption of medial and lateral ossification center fusion, so always on the right side unless they have dextrocardia.
234
Patient presents with this x-ray. What is the next step?
Check a platelet count. Congential absence of the radius is associated with TAR syndrome (AR) and Fanconi’s anemia (AR). Can also have thumb hypoplasia.
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Contraindications to centralization procedure in congenital absence of radius.
Unacceptable anesthetic risk due to other organ disease, inadequate elbow flexion to get hand to mouth
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How is centralization performed in congenital absence of the radius?
Wrist extensors transferred to ECU and ulna is lengthened
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How do you determine treatment in patients with thumb hypoplasia?
CMC stability, needs to be stable enough to allow pinch for reconstruction. If not stable -> ablation and pollicization.
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Most common direction of congenital radial head dislocation
47% anterior, 43% posterior
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Treatment of congenital radial head dislocation
Observation. If they have pain then do radial head resection; however, this will have minimal impact on ROM.
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Key anatomic structure involved in Madelung’s deformity
Vicker’s ligament tethers the volar ulnar corner and causes growth disturbance of the distal radial physis resulting in excessive volar and ulnar angulation.
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Treatment of Madelung’s
If asymptomatic, no treatment.
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Etiology of proximal radioulnar synostosis?
Failure of segmentation as radius and ulna separate from distal to proximal in the neonate. Can be bilateral in up to 60%.
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Treatment of radioulnar synostosis?
If symptomatic, do not resect the synostosis. Perform osteotomy to put forearm in preferred range of motion (30 pronation)
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Causes of transverse failure of limb formation (congenital amputation)
Intrauterine vascular compromise to developing limb bud, misoprostol, EtOH, tobacco and cocaine.
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Surgical treatment of thumb duplication
Bilaut-Cloquet procedure. Fuse duplicated distal phalanx, risk is physeal arrest.
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When do pediatric trigger thumbs resolve?
30% by 1 year, if not resolved, do A1 pulley release
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Poor prognosis in obstetric brachial plexu palsy
No biceps return after 6 months and/or Horner’s syndrome
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Surgical management of obstetric brachial plexus palsy
Contracture release, muscle transfer (get CT pre-op to determine need for osteotomy of humeral head) and nerve grafting
