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Millers > Peds > Flashcards

Peds Flashcards

1
Q

Name the syndrome:
- Congenital joint dislocations / lig laxity
- Facial dysmorphism
- Cervical kyphosis (possibly fatal)
- Clubfoot

A

Larsen syndrome

Ddx = arthrogryposis (joint dislocation but contractures not laxity)

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2
Q

Genetic mutation Larsen syndrome

A

FLNB gene - AD

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3
Q

Name the syndrome + mutation:
- Non ossifying fibromas (cortically based lucent lesions)
- Cade au lait spots
- Mandibular giant cell lesions

A

Jaffe Campanacci syndrome
NF1 (neurofibromin) - but NOT neurofibromatosis bc don’t have neurofibromas

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4
Q

Name the syndrome + mutation:
- Fibrous dysplasia
- Cafe au lait
- Precocious puberty

A

McCune Albright
GNAS gene = Gs alpha protein = regulates cAMP

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5
Q

Name the syndrome + mutation:
- Soft tissue hemangiomas
- Enchondromas

A

Maffucci
IDH1/2 genes = isocitrate dehydrogenase

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6
Q

Name the syndrome + mutation:
- Osteochondromas

A

MHE
EXT 1/2 - AD
Encodes EXT glycosyltransferases (heparan sulfate)

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7
Q

Name the syndrome + mutation:
- Phosphaturia / low serum PO4
- High alk phos
- Bowed legs
- Short stature
- Congenital

A

X linked hypophos rickets
X-L dom
PHEX mutation on osteocytes
Increased FGF 23 = less PO4 reabsorbed -> less vitD

Labs:
- Low PO4
- High alk phos
- Normal Ca, vit D

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8
Q

Treat osteoid osteoma extremities vs spine

A

Ext: NSAIDs -> RFA
Spine: excision (don’t want to use heat around spine)

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9
Q

Name the syndrome + mutation:
- Lucent lesions w/ endosteal scalloping, ground glass; no cortical disruption
- Histo= immature bone in fibrous stroma / osteoblasts rimming
- Shepherds crook prox femur

A

Fibrous dysplasia
Aka done remodel immature bone into mature
Missense mutation
alpha subunit GNAS = higher intracell cAMP -> activate osteoclasts

Non-op 1st
If recurrent issues, resect + reconstruction (curettage = recurs)

Ddx adamantinoma

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10
Q

Most common location for bipartate patella

A

Suplat
Dont confuse for a peds patella fracture

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11
Q

What age does normal genu varum become valgum?

A

<2 = varum
6-7yo = normal valgus

Make sure physes look normal, otherwise workup for rickets

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12
Q

Calcaneovalgus foot:
- Associated condition
- Treat

A

Calcaneovalgus
- Assc w/ postmed bowing
- Both spont resolve

If with post med bowing (not isolated), monitor for LLD

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13
Q

Name syndrome and mutation:
- Well circumscribed bone lesions in the legs/feet
- Histo cartilage

A

Multiple enchondromatosis = Ollier disease
No specific genetics (sporadic)

Monitor for malignant transformation

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14
Q

What lab value is associated with SCFE

A

Leptin

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15
Q

Labs vit D dep rickets

A

Low PO4, Ca, vit D
High alk phos, PTH

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16
Q

4 physes that are intra-articular (septic arthritis risk w/ osteo)

Where do hematogenous infections spread to bone?

A
  1. Prox hum (shoulder)
  2. Prox rad (elbow)
  3. Prox fem (hip)
  4. Distal fibula (ankle)

Metaphysis

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17
Q

How does peds backboard differ from adult?
Halo?

A

Hole cut out for head
Bigger heads - if flat, will flex the spine

Halo: 6-8pins, 2-4in-lbs torque

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18
Q

SH classification
Which part of physis is injured

A

SALTR
1 - Straight through
2 - exists Above (metaph)
3 - beLow (epiph)
4 - through (metaph + epiph)
5 - cRushed

ZPCa within zone of hypertrophy

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19
Q

Indications for bar resection for physeal arrest

A

> 2cm growth remaining (aka more than acceptable LLD)
<50% physis involved

Otherwise, guided growth

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20
Q

RF birth plexus palsy

A

Large baby
Shoulder dystocia
Prolonged delivery (need for induction) / assisted delivery

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21
Q

Supracondylar humerus frx
1. Nerve injury
2. Malunion
3. What is a risk factor for higher rates of nerve injury + compartment syndrome

A
  1. AIN > radial
    Ulnar = flexion type
  2. Varus + extension
  3. Ipsi forearm/distal rad frx
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22
Q

Lateral condyle fractures
1. Best XR
2. Classification
3. Malunion
4. Where is the BS

A
  1. IR oblique
  2. Milch - does extend into trochlea or no
  3. Valgus -> tardy ulnar nerve palsy
  4. BS posterior, beware for AVN risk
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23
Q

What other injury should you look for with medial epicondyle frx

A

Elbow dislocation

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24
Q

Transphyseal distal humerus frx
1. Rule out what?
2. Salter Harris most commonly associated
3. Malunion

A

Not an elbow dislocation don’t confuse
1. Child abuse!
2. SH 1 vs 2 (displaced vs not)
3. Varus (2/2 med cond AVN)

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25
What muscle is associated with these avulsion frx? 1. LT 2. Ischial tuberosity 3. AIIS 4. ASIS 5. Crest
1. IP (branches L1-3) 2. HS (tibial n) 3. Rectus (fem) 4. Sartorius (fem) / TFL (SGn) 5. External oblique
26
Treat stable vs unstable intertroch kids
Stable: spica if young enough Unstable: ORIF
27
Closed treatment of femoral shaft frx by age
<6mo = Pavlik <5yo = unilat spica - Up to 2cm short - 0.5-2cm overgrowth >5yo - OR - Flex nail parameters: <50kg or <11yo, 80% canal fit - Rigid nail: piriformis fossa has medial circumflex art
28
What is the order of physeal arrest tibial tubercle frx?
P -> A Med -> lat
29
What is a Cozen fracture? Common deformity?
Prox tibia Valgus (same as adults) - will correct 1-2yrs w/ remodeling
30
What is a risk factor for growth arrest of distal tibia fractures?
Post reduction gap >3mm SH 1/2, ORIF does not decrease risk of arrest
31
What is a Tillaux frx? Trt
AITFL avulsion from SER injury High risk part of plafond bc last to part of the physis to close is ant/lat CR -> CT scan -> OR if >2mm displacement
32
What is a triplane fracture?
2+3=4 Coronal SH2 (metaphysis) Sag SH3 (epiphysis)
33
What is involucrum vs sequestrum
OSTEO Involucrum = new bone, outside original bone Sequestrum = dead bone, avasc so nidus for infection - Requires surg excision
34
Which of the Kocher criteria is best predictor for infection?
Fever > CRP
35
Ortho and non-ortho presentation of Beckwith Wiedemann syndrome Chromosome
Ortho: hemihypertrophy Non-ortho: embryonal tumors (Wilms) - Get abd US screenings regularly Chromosome 11 near IGF gene
36
What is the genetic mutation + inheritance NF-1
Neurofibromin Chr 17 Spontaneous mutation
37
Name the disease: Bilateral absent radii with thumbs intact
Thrombocytopenia absent radius syndrome (TAR) Get a CBC Other forearm diseases have thumb involvement or some amount of radius present
38
What is Grisel syndrome? Dx it
Sp URI Spasm SCM muscle + neck lig laxity - head tilt Neck pain here (none with congenital muscular torticollis) Dx: 1. XR - open mouth may show C1 lat mass asymm 2. CT Vs US for cong musc torticollis
39
What gene is associated with clubfoot
PITX1-TBX4 - genes for hindfoot development
40
What tendon transfer is sometimes required after Ponsetti casting to maintain correction in kids?
Tib ant
41
What part of the physis is affected with Little Leaguers shoulder
Hypertrophic zone
42
Brachial plexus palsy - Erb: nerve roots
Erb: C5-6 = adduction, IR shoulder
43
Inheritance pattern of extra pinky toe
Postaxial polydactyly of the foot includes an extra digit on the fibular side of the foot. There are 2 types: Type A is a digit that usually consists of 3 phalanges and a nail. It is relatively well-formed, but some or all of the elements may be reduced. Type B is an extra digit that is a small conical projection or tag containing a distal phalanx and nail. Both types have an autosomal dominant inheritance pattern, but type B has a reduced penetrance.
44
What is Klippel Feil syndrome? - Physical clues - Associations (other tests you should order) - Genetics + inheritance
Congenital cervical fusions - Short neck - Low posterior hairline Associated: - Renal, cardiac, spinal cord anomalies - Sprengel (congenital elevation scapula) - Deafness SGM1 locus on chr 8 - variable penetrance/inheritance
45
2 most common tarsal coalition and XR findings
Calcaneonavic - anteater Talocalc (middle facet) - c sign
46
Compare the deforming forces of clubfoot dorsal bunion sequela vs cavus foot
Cavus: PL + TP >> PB + TA Dorsal bunion: over-lengthened PL during PM release, TA / FHB >> PL
47
What is the genetics for: - Vertical talus - Clubfoot - Cavus
Vertical talus: HOXD10 TF Clubfoot: PITX1 TF Cavus: PMP22 duplication (CMT)
48
CP - Which nerves affected - How dx on MRI
Upper motor neuron disease Dx periventricular leukomalacia on MRI brain
49
Spina bifida - What is increased in utero - What are maternal RFs - Allergy specific to these kids - Workup
High alpha fetoprotein - neural tube defects Maternal RF: folate deficiency, gestational DM, valproic acid use (seizure control) Pres: IgE latex abnormality Workup: MRI for tethered cord / syrinx
50
Genetics DMD vs Becker muscular dystrophy Mainstay treatment DMD
DMD: no dystrophin (Xp21.2), X linked recessive Becker: decreased dystrophin = later onset, milder course Trt: steroids!! Improves strength/resp fxn, decrease scoli progression
51
SMA - Genetics - Cells affected - Trt
AR - SMN gene Alpha motor neurons: proximal -> distal muscle weakness Intrathecal nusinersen injection If fusion scoliosis, go long construct like NM scoli
52
What is the substitution / gene for OI Trt OI
COL1A1/2 aka collagen mutation Glycine substitution Bisphos preventative
53
Genetics achondroplasia What part of physis affected
AD FGFR3 (activating mutation), chromosome 4p (petite) Proliferative zone - quantitative defect
54
NF-1 genetics Associated findings
AD, NF1 chr 17q11.2 Cafe au lait AL bowing Congential pseudoarthrosis tibia Scoliosis w/ dural ectasia
55
Genetics Marfans
Fibrillin 1 gene on chr 15q21 Remember pre op ECHO
56
Pedi hand - what controls: Longitudinal growth A to P growth Dorsal ventral growth
Long = AER AP = ZPA + SHH DV = Wnt
57
Fanconi anemia - Dx test - Workup tests - Ortho pres - Lifetime risk of what
Dx w/ chromosomal breakage test Workup: cardiac echo, renal US, CBC Ortho: radial anomalies Increased lifetime risk solid organ tumors (cancer!!)
58
Where is the tether for Madelung? What is the trt
Palmar ulnar tether (like Dr E distal radius!) Resect Vickers ligament
59
What disease is FGFR2 mutation
Apert syndrome = complex syndactyly (spoon hand)
60
Mutation/genetics + labs + other name for hereditary hyperphosphatasia
Juvenile Paget AR Inactivating mutation of OPG => uninhibited RANK => high bone turnover Labs: high alk phos Trt: bisphos
61
Cleidocranial dysplasia presentation + genetics
Runx2 / CBFA1 gene AD Osteoblast***** problem - problem with intramembranous ossification (NOT chondrocyte!!!) Absent clavicle = touch shoulders together Short Genu valgum Prom forehead
62
What is Hueter Volkmann vs Wolff law
HV = mechanical forces change longitudinal growth (compression stops growth aka guided growth) Wolff = bone adapts to mechanical stress

Millers (29 decks)

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