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Flashcards in Disorders Deck (92):
1

Mutation in cleidocranial dysplasia

RunX2, CBFA1

2

Inheritance of cleidocranial dysplasia

Autosomal dominant

3

Beckwith-Widemann syndrome

Hemihypertrophy

Chr 11 mutation
Large tongue

4

Clubfoot genetic mutation

PITX1

5

Orthotic for cavovarus foot

Lateral posting support

6

Most common type of CP

Spastic

7

Brain MRI findings of CP

Periventricular leukomalacia

8

Reimers hip index for CP

% of femoral head uncovered

<33% = at risk
>33% = subluxation
>100% = dislocation

9

Botox mechanism of action

Competitive inhibitor of presynaptic cholinergic receptors
Blocks acetylcholine release

10

Baclofen MOA

GABA agonist

11

Muscle atrophy in CMT

Peroneus brevis
Tib ant

12

CMT gene mutation

PMP 22 on Chr 17

13

Collagen assoc w/ lig laxity in Down's Syndrome

Type 6 collagen

14

Prader-Willi syndrome chromosomal abnormality

Chr 15 partial deletion

Hip dysplasia, scoliosis, genu valgum, pes planus, LLD, hypotonic

15

Turner's syndrome chromosomal abnormality

45X, O

Osteoporosis
Congenital hip dislocation
Short 4th MC
Scoliosis

16

Tab deficiency in DDH

Anterior or anterolateral

17

Normal acetabular index

<25 deg

18

Normal center edge angle

>25 deg

19

Normal hip ultrasound ALPHA angle

>60 deg (Tab + ilium)

20

Normal hip ultrasounds BETA angle

<55 deg (Labrum + ilium)

21

Contraindications for pavlik for DDH

Teratogenic dislocation
Spasticity
Spina bifida
Irreducible hip

22

When to do CR + Spica for DDH

6-18 months old

23

When to do OR + spica for DDH

18 months - 2 years old

24

Thoracic scoliosis resolves with ambulation

Achondroplasia

25

Pseudoachondroplasia mutation

COMP gene

26

Difference in pseudoachondroplasia vs. achondroplasia

Multiple joints involved

27

Mutation in MED

COMP gene
COL9A1-3 -> Type 2 collagen defect

28

Disproportionate dwarfism WITHOUT spine involvement

Multiple epiphyseal dysplasia

29

COL2A1 mutation

SED (AD + XLR)
Kniest's dysplasia (AD)

30

SED tarda inheritance

X-linked recessive

31

Spine involvement in SED

A-O instability
Odontoid hypoplasia

32

Diastrophic dysplasia gene mutation

DTDST gene on chr 5
Sulfate transporter protein

33

Cauliflower ears
Hitchhiker's thumb
Rigid clubfeet
Scoliosis, cervical kyphosis

Diastrophic dysplasia

34

Disproportionate dwarfism with retinal detachment

Kniest's dysplasia

35

3 types of metaphyseal chondrodysplasia

Jansen - AD, PTHrP receptor defect
Schmid - AD, type X collagen
McKusick - AR, C1-2 instability

36

Osteochondroma in the epiphysis

Trevor's disease
Dysplasia epiphysealis hemimelica
Groove of Ranvier defect

37

COL5A1+2 mutation

Ehlers Danlos

38

Pectus excavatum

Fetal alcohol syndrome
Marfan's syndrome
Noonan syndrome

39

Wide based gait
Foot deformities (rigid cavovarus)
Scoliosis
Cardiomyopathy

Friedrich's ataxia

40

B-glucocerebrocidase deficiency
Osteonecrosis
Autosomal recessive

Gaucher disease

41

Conditions with hemihypertrophy

Neurofibromatosis
Beckwith-Widemann syndrome
Klippel-Trenauney syndrome
Proteus syndrome

42

Assoc w/ Wilms tumor

Hemihypertrophy
NF-1

43

Most common cause of in toeing

Internal tibial torsion

44

Rash
Uveitis
Intermittent fever
RF+
C-spine involvement
Pericarditis

Juvenile idiopathic arthritis

HLA DR4
Symptoms >6 weeks
Get flex/ex XR pre-op

45

Acute onset joint pain
Fever
Rash
Splenomegaly

Still's disease

46

Ligamentous laxity w/ dislocations
Cervical kyphosis

Larsen's syndrome (AD+AR)

47

Good prognosis for Perthes disease

Age <6
Good hip ROM

48

Fibrillin-1 mutation on Chr 15
Misfolding of glycoprotein
Accumulation of TGF-beta

Marfan's syndrome

49

Scapular winging
Inability to whistle
FGFR-1 mutation

Facioscapulohumeral muscular dystrophy

50

COL1A 1+2 mutation
Glycine substituted

OI

51

Assoc w/ Malignant Hyperthermia

Myelomeningocele
OI
Duchenne's
Turner's syndrome

52

Mutation in carbonic anhydrase and chloride channel of osteoclasts
Erlenmeyer flask femur

Osteopetrosis (AD+AR)

53

Most common tarsal coalition

Calcaneonavicular

54

Proportionate dwarf with C1-2 instability, no MR

Morquio syndrome

55

MECP2 gene mutation

Rett syndrome (X-linked dominant)

56

Developmental delay
Seizures
Ataxia, apraxia
Scoliosis
Hypotonia

Rett syndrome

57

Southwick angle

fem head-shaft angle on frog leg lateral
For SCFE

Mild <30
Moderate 30-50
Severe >50

58

Correction osteotomy for a chronic SCFE

Flexion, valgus, IR

59

Proximal motor weakness (LE>UE)
Absent DTR
Tongue fasciculations
Hip subluxation
Scoliosis (progressive)

Spinal muscular atrophy

60

SMN1 gene mutation

Spinal Muscular Atrophy (AR)

61

Diagnostic test for SMA

Muscle biopsy

62

Congenital tibial pseudoarthrosis
Tibial hemimelia
Neurofibromatosis

Anterolateral tibial bowing

63

Optic glioma
Lisch nodules (iris hamartomas)

NF-1 (von Recklinghaussen disease)

64

Anteromedial tibial bowing

Fibular hemimelia (sonic hedgehog)
Ball and socket ankle

65

Posteromedial tibial bowing

Physiologic
Calcaneovalgus foot

66

Most common congenital amputation

Trans-radial

67

Indications for early surgery for brachial plexopathy

Flail arm at 1 month
Horner's syndrome at 1 month
No biceps function at 3-6 months

68

Operative indication for infantile Blount's

Age >3

69

Most common bacterial infection after Varicella

Group A beta-hemolytic Strep

70

XR view to diagnose congenital vertical talus

Lateral view in plantar flexion

71

Bunion surgery for non-ambulatory kids

1st MTP fusion

72

Diagnostic work up for hemihypertrophy

Renal and abdominal U/S

73

Most important risk factor for DDH

Breech position

74

Congenital scoliosis type with highest risk of rapid progression

Unilateral unsegmented bar with contralateral hemivertebra

75

When to operate on scoliosis in Duchenne's

Curve of 25 deg
Pulmonary function tests at 35% of expected

76

Indicator of impending scoliosis progression in Neurofibromatosis

Rib penciling

77

Lethal type of OI

Type 2

78

Hilgenreiner's angle in coxa vara

<45 deg = observe
45-60 deg = close follow-up, OR if neck-shaft angle <100
>60 deg = valgus osteotomy

79

Genetic assoc w/ tarsal coalition

Craniosynostosis syndromes
FGFR 1-3
Autosomal dominant

80

Vascular abnormality assoc w/ idiopathic clubfoot

Absence of anterior tibial artery

81

Embryonic vascular interruption

Poland syndrome (Sprengel deformity)

82

Hair tourniquet syndrome mechanism

Infantile vascular interruption

83

Salvage pelvic osteotomies for DDH

For non-concentric reduced hips
Do not rely on moving cartilage over the head

Chiari
Shelf

84

Filamin B Mutation

Larsen's syndrome

85

Structure most commonly entrapped in tibial eminence fx

Anterior horn of medial meniscus

86

CMT affects what part of the nerve

Myelin sheath

87

Popliteal pterygium

Congenital popliteal webbing
Knee flexion contractures

<20 deg = Non-op
20-40 deg = Stretching/splinting
40-60 deg = Z plasty + casting
>60 deg = fem shortening, soft tissue lengthening, ex fix

88

Pre op eval for Duchenne's

Cardiology for cardiomyopathy

89

Treatment for uncorrected or relapsed Blount's (age >3)

Hemi-plateau elevation

90

Diagnostic lab test for juvenile idiopathic arthritis

ANA

91

Normal total hip rotation (IR+ER)

100 deg

92

Non-progressive joint contractures
Normal cognition

Arthrogryposis