Children Flashcards
1
Q
Neurofibromatosis typ 1 characteristics
A
Von Recklinghousen
NF1 gene 50% spontanous, dominant pattern
2
Q
A
3
Q
A
Clinodactyly of the thumb
4
Q
A
5
Q
Web deepening double oppositionen z plast
A
6
Q
Standard four-flap Z-plasty for thumb web
A
7
Q
A
Apert syndrome
FGFR2 mutation
8
Q
Acrosyndactyli
A
Syndacryli with febestrations prox to distal fusion
9
Q
A
Polanski syndrome
Disruption of subclavian artery blood flow in embryo
10
Q
A
Ulnar polydactyly
Left syndactyly
11
Q
A
Postaxial polydactyly in chondroectodermal dysplasia (Ellis van Creveld syndrome) with characteristic nail dysplasia
12
Q
A
Postaxial (ulnar) polydactyly
Type B
(Type A = well developed digit)
13
Q
A
Grebe condrodysplasia and severe brachydactylia
14
Q
A
Familial synpolydactyly
15
Q
A
Central polydactyly - all finger full motion and function
16
Q
A
Mirror hand
17
Q
Most common in mirror hand?:
2 radius or 2 ulnas
A
2 ulnas
Type 1 (of 5)
18
Q
Brachydactyly
A
Short fingers
Can be generalized or on P1,P2,P3,MC…
19
Q
A
Central hand deficiency - cleft hand
20
Q
A
Constriction ring syndrome
21
Q
A
Symbrachydactyly
Fused short fingers
22
Q
Classification of symbrachydactyly
A
23
Q
A
Clinodactyly
24
Q
Treatment of Clinodactyly caused by a delta phalanx
A
Excision of malformed phalanx
Ligament reconstruction
Arthrodesis
25
4 types of Macrodactyly
1 lipofibromatosis
2 neurofibromatosis
3 digital hyperostosis - bone/joints
4 hemihypertrophy - rare - all digits
26
Macrodactyly with lipofibromatous of ulnar digital nerve
Most common type (próx nerve involvement) often 1 digit or nerve distribution
27
Macrodactyly with syndactyly
28
Hyperostotic macrodactyly
29
Most reliable method for stopping growth in Macrodactyly
Epiphysiodesis
(Other: digital nerve stripping)
30
Tsuge method for reducing length on a macrodactylous finger
31
God salvage for macrodacytly
Ray amputation
Consider early
32
Type II thumb hypoplasia
(Absense intrinsic thenar musles, first space narrowing, UCL insufficiency)
33
Type IV thumb hypoplasia
Floating thumb
34
Type 3 thumb hypoplasia
Type 2 plus extrinsic muscle abnormalities
Skeletal defisiency
3a: stable - reconstructable
3b: unstable CMC1 - pollicisation/toe to hand
35
Syndromes associated with radial deficiency?
36
Classification of thumb duplication
Wassel
37
Wassel IV : duplicated thumb (p1 and p2)
38
Assymetric typ 2 (Wassel) duplication, dominant side is determinerat prior surgery
39
Wassel 2 surgery Bilhaut-Cloquet procedure
40
Wassel 2 surgery of assymetric thumb
41
Wassel 4 skin insicion
If ni dominant component save the ulnar for good UCL function
42
2 types of 3 phalangeal thumb
1. Relatively normal-appearing thumb
-> fusion of one bad joint
2. 5 fingered hand (in plane of fingers)
-> pollicisation
Genetic counseling (autosomal dominant pattern)
43
Trigger thumb etiology
Not congenital
Acquired of thight A1 big FPL
44
Indication for surgery trigger thumb
Stage IV = locked in flexión and >1y
45
When conservative treatment of trigger thumb for
<1 y age
Obs/splinting 50-70% success 48m time
Can wait up to 3y age with no contracture
Type 1-3
1 only Notta nodule
2 Triggering
3 Actively locked but not passive
46
Trigger finger surgery
A1 release
And FDS slip excision. Open A3 also and cut from there.
47
Multiple trigger finger think of
Inflammatory arthritis
Juvenile diabetes
Mucopolysaccharide disorders
48
Clasped thumb
- no EPB
49
Clasped thumb types
1. Supple and bad/no extensors
2. Complex with joint involvement
3. With syndrome ex Arthrogryposis
50
Radial longitudinal deficiency
(Not radial club hand)
51
VACTERL
52
Holt-Oran syndrome
“Hand heart syndrome”
RLD + ASD/VSD septal defects
53
TAR
Trombocytopenic Absent Radius
Recessive RBM8A gene
54
Fanconi anemia
Autosomal recessive
Peculiar face
Need bone marrow transplant
55
RLD type 4
All types hypoplastic or absent thumb
N. Only thumb
0. carpus
1. Radius 2mm shorter than ulna
2. Próx radius hypoplastic
3. No distal radius physis
4. Absent ulna radius
56
Surgery for RLD
57
Treatment timing RLD
58
RLD
Lamb method
Buck-Gramcko method
Lamb almost like arthrodesis
In dynamic the muscles seldom possible to transposable
Full release of soft soft tissues
59
Treatment RLD type III-IV
60
NF2
Vestibular schwannoma
Meningeoma..
| Less common than NF1 (von Recklinghousen)
## Footnote
50% spontanous mutation
Dominant pattern, NF2 gene
61
Whats most important for hand function in RLD
Conditioins of fingers not radial deviation
Complex syndrome
Variable combinations of hand malformations
62
How preserve forearm growth before wrist positioning
Soft tissue distraction
63
Ulnar deficiency only in hand
64
Ulnar deficiency and classic hand on flank position
65
Is ulnar deficiency associated with toher systemic conditions
No
But association with other musculoskeletal abnormalities (syndactuli, lower extremity, scolios, phocomelia)
Sporadic cases
| RLD is associated with many
66
Phocomelia
"Seal extremities"
if from drugs "Thalidomide syndrome"
67
Surgery in ulnar deficiency
And treatment for possible thumb deficiency like thumb hypoplasia
68
Madulung deformity causes
Mainly unknown; maybe:
- Vickers ligament
- injury to radius growth plate, in ulnar part
- Leri-Weill dyschondrosteosis (dominant pattern, SHOX-gene)
- Repeated loading
69
Treatment Madelung deformity in skeletall immature
If painless: no treatment but consider physiolys if skeletally immature
Pain: Physiolys + Vickers lig release (often pain too late in adolecense - combine ulnar epiphysiodesis + dome osteotomy radius)
70
Treatment Madelung deformity in skeletall mature
1. Lig resection + radius dome osteomy
2. radial wedge ostetomy + ulnar shortening
3. radial opening wedge ostetomy
4. radial osteotomy and distal ulnar resection
5. radial ostetomy and Suvé-Kandju procedures
6. 3D reconstruction
71
Transverse deficiency
72
Congenital radial head dislocation vs traumatic
In congenital:
dome shaped radial headwith no central concavity, elongated and narrow in posterior dislocation. Often bilateral and other anomalies is common. Shortened ulna with palmar bow with anterior dislocation och dorsal bow with posterior. Hypoplastic och absent capitellum.
73
PRUS
Proximal radioulnar synostosis
| Resection unsuccessfull
+interposition free vasc fascial flap not much
## Footnote
Derotation osteotomy
74
Congenital pseudo arthritis of radius and ulna - neurofibromatosis
Portion of ulna replaced by fibrous tissue
Resection- Vasc fibula graft
75
MHE
Multiple hereditary exostosis
Cartilaginous exostosis (osteochorndromas) grow fr physiatrist of long bones and pelvis, scapula, ribs, vertebrae
Malignant transformation uncommon
76
Artrogryposis
Congenital disorder with 2 or more stiff joints
77
Common hand surgeries in Artrogryposis
Humerus external rotation osteotomy
Elbow relese
LD dorsi for biceps
Carpal wedge osteotomy (for flexion deforimty not wrist arthrodesis
Camptodactyly release
Thumb reorientation osteotomy
78
Salter-Harris 3
79
Salter-Harris 3
80
When is the formation of the limb bud?
The differentiation?
Growth?
81
What initiates limb bud growth
HOS, TBOX genes
82
What signalling centre and protien is responsible for:
1. Proximal/distal growth?
2.Anterior(ulnar)/Posterior (radial)?
3. Dorso/ventral?
1. AER (Apical ectodermal ridge, prox), FGF (fibrobl GF, distalises))
2. ZPA (Zone of Polarazing activity, ulnar), SHH (Sonic Hedgehog, ulnarises)
3. Dorsal ectoderm, WnT (dorsalises)
83
Resonsible transcription factors for each signalling centre/responsible proteins?
AER/FGF - HOXA10,11,13, TBX4,5
ZPA/SHH - HOXD10-13 GLI3
Wnt - LMX1, EN1
84
Experiments done to understand each signalling centre/responsible proteins experiments.
Truncated limb (-) ectopic limb (+) AER/FGF - HOXA10,11,13, TBX4,5
Duplication (+), loss of digit and ulnar (-) ZPA/SHH - HOXD10-13 GLI3
Biventral (-) Bidorsal mice (+) Wnt - LMX1, EN1
85
OMT classification 4 parts
1. Malformation
2. Deformation
3. Dysplasia
4. Syndromes
86
OMT difference from previous Swnason classification
1-3 is the same but grouped under Malformation.
Constriction band is nr VI but in OMT nr 2 Deformation.
Over/undergrowth IV-V is Dysplasia
87
Makrodaktyli mutation/Pathway?
88
Responsible protein for syndactyly (controlled cell apoptosis)
BMP
89
Apert syndrome mutation?
FGFR2 receptor -> upregulation of FGF -> overwhelmses BMP ->syndactyly
90
Synpolydactyly gene
HOXD13 , autosomal dominant
91
Synpolydactyly with cranial deformities
Cephalosynpolydatyly HOXD13, autosomalt dominant
92
Where does the thumb come from?
93
What elese is deformed in thumb hypoplasia?
94
Effects of ectopic sonic hedgehog
95
How do thumb variations happen?
96
When to contact a geneticist?
97
When to think it´s a syndrome?
98
4 ex of Malformations OMT 1A (entrie upper limb) - and what axis are mentioned
99
When are fingers separated?
100
3 ex of Malformations OMT 1B (Axis of formation/Handplate) type 4 unspecific axis
101
3 ex of Malformations OMT 1B (Axis of formation/Handplate) type 4 unspecific axis
102
2 types of Hypertrophic Dysplasia and 1 type of tumerous Dysplasia?
103
One type of deformation OMT 2
104
5 mist common syndactyly types?
105
Syndrome syndactyly
Poland 1:30.000 (sporadic not true genetic syndrome, 6th week pregnancy vascular problem)
Apert 1:100.000
Grieg cephalopolysyndactyly
Oculodentodigital syndrome
Timothy syndrome (Lqt heart)
106
5 types of syndactyly
107
Modern technique for syndactyly release
Much larger dorsal flap
108
Why full thickness skin graft in syndactyly release
Prevent web creep if tight
109
Web anatomy
110
Nail fold reconstruction in syndactyly
Sometimes after splitting and full thickness stage one
Before fingers are separated
Buck Gramko
111
Incomplete syndactyly surgery
112
3 types of Apert syndrome
113
Acrosyndactyly
Fusion of distal part of digit in the presence of a formed web space proximal to this fusion
Often constriction ring syndrome
114
Are trigger digits congenital
No
115
Difference between trigger thumb and thumb in palm
IPj vs MCPj
116
Trigger thumb history
100% spontaneous
Weak association with trauma
117
Trigger thumb classification
118
What is Nottas nodule
Thickening of FPL
Differentiate from sésamo ida that doesn’t move
119
Management of trigger thumb
2-5y
grade 1 not painful disharge
Painful observe/splint 6m
Grade 2-3 consider surgery
120
Trigger finger what to think?
Very uncommon 1/10 of trigger thumb
MUST consider
Mucopokysaccaroidosis
Hurlers disease
Juvenile RA
More room for observation
121
Trigger finger release
Much more extensive than thumb
Anatomical variations common
Brunner
A1 if not enough
A3 adhesion if not enough
Excise one slip of FDS
122
Camptodactyly
Description not diagnosis
Bent finger
Congenital or traumatic
123
Camptodactyly history
124
Camptodactyly examination
Bouvier test testar PIP kontraktur I’m flex MCP
FDS kontraktur?…
RTG
Tenting of skin Jeff not tenting after trauma
125
Camptodactyly treatment
Splint until skeletal maturity
No need surgery unless >60 degrees
Surgery
Remove all fibrous tissues and inspect intrinsically. If lumbrical flex pip when tighten respect it
Always cut FDS and suture on to the other lengthened
126
Clinodactyly management
Many syndromes!
X-ray exclude trauma (osteotomy)
And confirm cause of deformity
(Delta phalanx, trapezoidal improve with age, irregular physis)
127
Surgery of Delta phalanx
Piece of fat for forearm put inside sutures after break up the fysis
Be sure it is not irregular physis (UL or MRI) treated with corrective osteotomy
128
Wassel classification
129
Classification of hypoplastic thumb
Blauth
130
Ulnar polydactyly classification
131
IIIA Thumb hypoplasia treatment?
II thumb hypoplasia treatment
FDS opponensplasty prefered if available. Use a distal FCU loop. Drill hole trough MC head and use rest to reconstruct UCL.
132
Pollex abductus
Connection between FPL and EPL in thumb hypoplasia
Makes secondary lax UCL
133
what does lateral plate mesoderm form?
Bone, cartilage and thendon
Somatic mesoderm forms muscle, nerve and vascular elements
134
Classification of RLD
N: hypoplastic thumb or absent
0: Carpus involvement
1: >2cm shorter radius
2: whole radius hypoplastic
3: absent distal physis radius
4: absent radius
135
At what age centralization?
Before 1y of age
Serial casting and/or soft tissue distraction
| transfer abberant wrist extensors, thumb hypoplasia at second stage
136
How much ulna lengthening in RLD
30-50%
| Rarely indicated, risk damage growth - need repeted lengthening
137
Risk of centralization in RLD?
Stiff and straight of flexible and deviated
Recurrence
Some have abandoned in favor of soft tissue reconstruction: bilobed skin flap + musculotendinous release + tendon transfers
138
What the hereditery pattern of ulnar deficiency
Sporadic
| And not associated with systemic conditions like radial deficiency
139
Ulnar deficiency presentation
Surgical options
Whole upper extremity hypoplastic
Often radiohumer synostosis
Ulna absent or partial + anlage
Carpus alway affected; 90% missing digits, 30% syndactyly, 70 thumb abnormalities - surgery to increase function (syndactyly, first web deepening, opponensplasty, pollicization)
| Excision anlage if progressive deviation
140
Madelung causes
Disturbance of distal radial growth in ulnar palmar side. Often bilat.
Vickers ligament
Leri-Weill dyschondrosteosis - SHOX mutation (short-status homeobox-containging gene (dominant 50% penetrance)
Repetetiv loading in growing child
Lesion in physis
141
Epiphysiolysis vs epiphysiodesis in Madelung
lys - Open up closes bone physis to promote growth in radius
des - close physis to stop growth of ulna when close to skeletalat maturity
142
Madelung surgery
Skeletal immature - often no pain - surgery if progression
Epiphysiolys radius + vickers excision (if close to maturity epiphysiodes of ulna also)
Mature - more pain problems
Dom osteotomy + lig resection, radial closing wege + ulnar shortening, radial opening wedge, radial osteotomy + Darrach, Radial osteotomy + Sauvé-Kapandji
143
How to distinguish traumatic from congenital dislocation of the radial head
Radiography of other side - often bilateral
MRI show intracapsular radial head in congenital cases but protrusion through capsule in trauma
MRI also show convex instead of concave head + hypoplastic capitellum
No surgery needed
| Association congen radioulnar synostosis + syndromes - (only excision)
144
PRUS
Proximal Radioulnas synostosis
Surgery if extreme pro/sup, corrective osteotomy
145
Congenital pseudoarthrosis of the ulna or radius is associated with
Neurofibromatosis
| excsision + free vascular fibular graft
146
MHE
Multiple Hereditery Exostosis
Autosomal dominant high penetrance
Osteochondromas (cartilaginous exostoses)
| Compare Olliers and Mafuccis that have multiple enchondromas.
147
Where are the physises of the hand
Phalanges, tumb and MC1 proximal
Other Metacarpals distal
148
Fractors affecting bone remodelling after fractures
+ same axis as adjacent joint motion
+ proximity to physis
+ young
- Rotational
- radioulnar
| Preserve physeal growth
149
Wrinkle test
Warm water immersion for several minutes - if skin wrinkling appears implies innervation (no nerve injury)
150
Pediatrik Monteggia fx classification and treatment
Galeazzi treatment
Galeazzi is radius + DRUj - in kids surgery seldom needed
