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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
Q

What muscle is associated with these avulsion frx?
1. LT
2. Ischial tuberosity
3. AIIS
4. ASIS
5. Crest

A
  1. IP (branches L1-3)
  2. HS (tibial n)
  3. Rectus (fem)
  4. Sartorius (fem) / TFL (SGn)
  5. External oblique
26
Q

Treat stable vs unstable intertroch kids

A

Stable: spica if young enough
Unstable: ORIF

27
Q

Closed treatment of femoral shaft frx by age

A

<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
Q

What is the order of physeal arrest tibial tubercle frx?

A

P -> A
Med -> lat

29
Q

What is a Cozen fracture? Common deformity?

A

Prox tibia
Valgus (same as adults) - will correct 1-2yrs w/ remodeling

30
Q

What is a risk factor for growth arrest of distal tibia fractures?

A

Post reduction gap >3mm
SH 1/2, ORIF does not decrease risk of arrest

31
Q

What is a Tillaux frx? Trt

A

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
Q

What is a triplane fracture?

A

2+3=4
Coronal SH2 (metaphysis)
Sag SH3 (epiphysis)

33
Q

What is involucrum vs sequestrum

A

OSTEO
Involucrum = new bone, outside original bone
Sequestrum = dead bone, avasc so nidus for infection
- Requires surg excision

34
Q

Which of the Kocher criteria is best predictor for infection?

A

Fever > CRP

35
Q

Ortho and non-ortho presentation of Beckwith Wiedemann syndrome
Chromosome

A

Ortho: hemihypertrophy
Non-ortho: embryonal tumors (Wilms)
- Get abd US screenings regularly
Chromosome 11 near IGF gene

36
Q

What is the genetic mutation + inheritance NF-1

A

Neurofibromin
Chr 17
Spontaneous mutation

37
Q

Name the disease:
Bilateral absent radii with thumbs intact

A

Thrombocytopenia absent radius syndrome (TAR)
Get a CBC

Other forearm diseases have thumb involvement or some amount of radius present

38
Q

What is Grisel syndrome? Dx it

A

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
Q

What gene is associated with clubfoot

A

PITX1-TBX4 - genes for hindfoot development

40
Q

What tendon transfer is sometimes required after Ponsetti casting to maintain correction in kids?

A

Tib ant

41
Q

What part of the physis is affected with Little Leaguers shoulder

A

Hypertrophic zone

42
Q

Brachial plexus palsy
- Erb: nerve roots

A

Erb: C5-6 = adduction, IR shoulder

43
Q

Inheritance pattern of extra pinky toe

A

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
Q

What is Klippel Feil syndrome?
- Physical clues
- Associations (other tests you should order)
- Genetics + inheritance

A

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
Q

2 most common tarsal coalition and XR findings

A

Calcaneonavic - anteater
Talocalc (middle facet) - c sign

46
Q

Compare the deforming forces of clubfoot dorsal bunion sequela vs cavus foot

A

Cavus: PL + TP &raquo_space; PB + TA
Dorsal bunion: over-lengthened PL during PM release, TA / FHB&raquo_space; PL

47
Q

What is the genetics for:
- Vertical talus
- Clubfoot
- Cavus

A

Vertical talus: HOXD10 TF
Clubfoot: PITX1 TF
Cavus: PMP22 duplication (CMT)

48
Q

CP
- Which nerves affected
- How dx on MRI

A

Upper motor neuron disease
Dx periventricular leukomalacia on MRI brain

49
Q

Spina bifida
- What is increased in utero
- What are maternal RFs
- Allergy specific to these kids
- Workup

A

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
Q

Genetics DMD vs Becker muscular dystrophy
Mainstay treatment DMD

A

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
Q

SMA
- Genetics
- Cells affected
- Trt

A

AR - SMN gene
Alpha motor neurons: proximal -> distal muscle weakness
Intrathecal nusinersen injection
If fusion scoliosis, go long construct like NM scoli

52
Q

What is the substitution / gene for OI
Trt OI

A

COL1A1/2 aka collagen mutation
Glycine substitution
Bisphos preventative

53
Q

Genetics achondroplasia
What part of physis affected

A

AD FGFR3 (activating mutation), chromosome 4p (petite)
Proliferative zone - quantitative defect

54
Q

NF-1 genetics
Associated findings

A

AD, NF1 chr 17q11.2
Cafe au lait
AL bowing
Congential pseudoarthrosis tibia
Scoliosis w/ dural ectasia

55
Q

Genetics Marfans

A

Fibrillin 1 gene on chr 15q21
Remember pre op ECHO

56
Q

Pedi hand - what controls:
Longitudinal growth
A to P growth
Dorsal ventral growth

A

Long = AER
AP = ZPA + SHH
DV = Wnt

57
Q

Fanconi anemia
- Dx test
- Workup tests
- Ortho pres
- Lifetime risk of what

A

Dx w/ chromosomal breakage test
Workup: cardiac echo, renal US, CBC
Ortho: radial anomalies
Increased lifetime risk solid organ tumors (cancer!!)

58
Q

Where is the tether for Madelung? What is the trt

A

Palmar ulnar tether (like Dr E distal radius!)
Resect Vickers ligament

59
Q

What disease is FGFR2 mutation

A

Apert syndrome = complex syndactyly (spoon hand)

60
Q

Mutation/genetics + labs + other name for hereditary hyperphosphatasia

A

Juvenile Paget
AR
Inactivating mutation of OPG => uninhibited RANK => high bone turnover
Labs: high alk phos
Trt: bisphos

61
Q

Cleidocranial dysplasia presentation + genetics

A

Runx2 / CBFA1 gene
AD
Osteoblast***** problem - problem with intramembranous ossification (NOT chondrocyte!!!)

Absent clavicle = touch shoulders together
Short
Genu valgum
Prom forehead

62
Q

What is Hueter Volkmann vs Wolff law

A

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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