Peds Flashcards
Name the syndrome:
- Congenital joint dislocations / lig laxity
- Facial dysmorphism
- Cervical kyphosis (possibly fatal)
- Clubfoot
Larsen syndrome
Ddx = arthrogryposis (joint dislocation but contractures not laxity)
Genetic mutation Larsen syndrome
FLNB gene - AD
Name the syndrome + mutation:
- Non ossifying fibromas (cortically based lucent lesions)
- Cade au lait spots
- Mandibular giant cell lesions
Jaffe Campanacci syndrome
NF1 (neurofibromin) - but NOT neurofibromatosis bc don’t have neurofibromas
Name the syndrome + mutation:
- Fibrous dysplasia
- Cafe au lait
- Precocious puberty
McCune Albright
GNAS gene = Gs alpha protein = regulates cAMP
Name the syndrome + mutation:
- Soft tissue hemangiomas
- Enchondromas
Maffucci
IDH1/2 genes = isocitrate dehydrogenase
Name the syndrome + mutation:
- Osteochondromas
MHE
EXT 1/2 - AD
Encodes EXT glycosyltransferases (heparan sulfate)
Name the syndrome + mutation:
- Phosphaturia / low serum PO4
- High alk phos
- Bowed legs
- Short stature
- Congenital
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
Treat osteoid osteoma extremities vs spine
Ext: NSAIDs -> RFA
Spine: excision (don’t want to use heat around spine)
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
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
Most common location for bipartate patella
Suplat
Dont confuse for a peds patella fracture
What age does normal genu varum become valgum?
<2 = varum
6-7yo = normal valgus
Make sure physes look normal, otherwise workup for rickets
Calcaneovalgus foot:
- Associated condition
- Treat
Calcaneovalgus
- Assc w/ postmed bowing
- Both spont resolve
If with post med bowing (not isolated), monitor for LLD
Name syndrome and mutation:
- Well circumscribed bone lesions in the legs/feet
- Histo cartilage
Multiple enchondromatosis = Ollier disease
No specific genetics (sporadic)
Monitor for malignant transformation
What lab value is associated with SCFE
Leptin
Labs vit D dep rickets
Low PO4, Ca, vit D
High alk phos, PTH
4 physes that are intra-articular (septic arthritis risk w/ osteo)
Where do hematogenous infections spread to bone?
- Prox hum (shoulder)
- Prox rad (elbow)
- Prox fem (hip)
- Distal fibula (ankle)
Metaphysis
How does peds backboard differ from adult?
Halo?
Hole cut out for head
Bigger heads - if flat, will flex the spine
Halo: 6-8pins, 2-4in-lbs torque
SH classification
Which part of physis is injured
SALTR
1 - Straight through
2 - exists Above (metaph)
3 - beLow (epiph)
4 - through (metaph + epiph)
5 - cRushed
ZPCa within zone of hypertrophy
Indications for bar resection for physeal arrest
> 2cm growth remaining (aka more than acceptable LLD)
<50% physis involved
Otherwise, guided growth
RF birth plexus palsy
Large baby
Shoulder dystocia
Prolonged delivery (need for induction) / assisted delivery
Supracondylar humerus frx
1. Nerve injury
2. Malunion
3. What is a risk factor for higher rates of nerve injury + compartment syndrome
- AIN > radial
Ulnar = flexion type - Varus + extension
- Ipsi forearm/distal rad frx
Lateral condyle fractures
1. Best XR
2. Classification
3. Malunion
4. Where is the BS
- IR oblique
- Milch - does extend into trochlea or no
- Valgus -> tardy ulnar nerve palsy
- BS posterior, beware for AVN risk
What other injury should you look for with medial epicondyle frx
Elbow dislocation
Transphyseal distal humerus frx
1. Rule out what?
2. Salter Harris most commonly associated
3. Malunion
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)
What muscle is associated with these avulsion frx?
1. LT
2. Ischial tuberosity
3. AIIS
4. ASIS
5. Crest
- IP (branches L1-3)
- HS (tibial n)
- Rectus (fem)
- Sartorius (fem) / TFL (SGn)
- External oblique
Treat stable vs unstable intertroch kids
Stable: spica if young enough
Unstable: ORIF
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
What is the order of physeal arrest tibial tubercle frx?
P -> A
Med -> lat
What is a Cozen fracture? Common deformity?
Prox tibia
Valgus (same as adults) - will correct 1-2yrs w/ remodeling
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
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
What is a triplane fracture?
2+3=4
Coronal SH2 (metaphysis)
Sag SH3 (epiphysis)
What is involucrum vs sequestrum
OSTEO
Involucrum = new bone, outside original bone
Sequestrum = dead bone, avasc so nidus for infection
- Requires surg excision
Which of the Kocher criteria is best predictor for infection?
Fever > CRP
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
What is the genetic mutation + inheritance NF-1
Neurofibromin
Chr 17
Spontaneous mutation
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
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
What gene is associated with clubfoot
PITX1-TBX4 - genes for hindfoot development
What tendon transfer is sometimes required after Ponsetti casting to maintain correction in kids?
Tib ant
What part of the physis is affected with Little Leaguers shoulder
Hypertrophic zone
Brachial plexus palsy
- Erb: nerve roots
Erb: C5-6 = adduction, IR shoulder
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.
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
2 most common tarsal coalition and XR findings
Calcaneonavic - anteater
Talocalc (middle facet) - c sign
Compare the deforming forces of clubfoot dorsal bunion sequela vs cavus foot
Cavus: PL + TP »_space; PB + TA
Dorsal bunion: over-lengthened PL during PM release, TA / FHB»_space; PL
What is the genetics for:
- Vertical talus
- Clubfoot
- Cavus
Vertical talus: HOXD10 TF
Clubfoot: PITX1 TF
Cavus: PMP22 duplication (CMT)
CP
- Which nerves affected
- How dx on MRI
Upper motor neuron disease
Dx periventricular leukomalacia on MRI brain
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
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
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
What is the substitution / gene for OI
Trt OI
COL1A1/2 aka collagen mutation
Glycine substitution
Bisphos preventative
Genetics achondroplasia
What part of physis affected
AD FGFR3 (activating mutation), chromosome 4p (petite)
Proliferative zone - quantitative defect
NF-1 genetics
Associated findings
AD, NF1 chr 17q11.2
Cafe au lait
AL bowing
Congential pseudoarthrosis tibia
Scoliosis w/ dural ectasia
Genetics Marfans
Fibrillin 1 gene on chr 15q21
Remember pre op ECHO
Pedi hand - what controls:
Longitudinal growth
A to P growth
Dorsal ventral growth
Long = AER
AP = ZPA + SHH
DV = Wnt
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!!)
Where is the tether for Madelung? What is the trt
Palmar ulnar tether (like Dr E distal radius!)
Resect Vickers ligament
What disease is FGFR2 mutation
Apert syndrome = complex syndactyly (spoon hand)
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
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
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
