Congenital Arm Flashcards
What is this?
Radial Clubhand
What is radial clubhand epidemiology
Likely related to Sonic the hedgehog gene
Thumb usually deficient as well
Bilateral in 50-72%
Incidence 1:100,000
What are the associated conditions of radial club hand ?
TFHOVV
TAR- Autosomal recessive condition with Thrombocyopenia and Absent radius
Fanconii’s anaemia= autosomal recessive condition with aplastic anaemia- tx bone marrow transplant
**Holt-Oram syndrome- autosomal dominant ** characterised by cardiac defects
VACTERL sydrome-vertebral anomalies, anal atresia,cardiac anomalies, transeophageal fistula. renal agensis and limb defects
VATER syndrome- vertebral anomalies, anal atresia, transeophageal fistula, oesphageal atresia, renal agensis
What is the classification system of radial club hand
Bayne and KIng (BK)
Type 1 - Deficient distal radius epiphysis
Type 2- Deficient radius and proximal radial epiphyses
Type 3- Present proximally ( partial aplasia)
Type 4- Completely absent ( total aplasia)- most common
What do you see on examination in radial club hand?
Deformity of hand with perpendicular relationship between forearm and hand
Absent Thumb
Careful elbow exam!
What Investigations are useful in radial club hand?
Xrays- show deficient radius and thumb
U& E
Renal Uss
Cardiac Echo
to screen for VACTERL and VATER syndromes
Describe the currents Tx of radial club hand?
_Non operative _
Passive stretching- target radial sided structures
Observation- if absent elbow motion/ biceps deficiency- hand abnormality allows for extra reach to mouth in presence of stiff elbow!
Operative
Hand centralisation
What are the indications, Contraindications and technique for hand centralisation?
Good elbow movement and biceps function
Done at 6-12 months old
Followed by tendon transfers
Contraindications
Older pts with good function
patients with elbow extension contracture rely on radial deviation
proximal terminal condition
Technique
Involves resection varing amounts of carpus, shortening ECU, and angular osteotomy of ulna
may done as 2 stage proceedure with distraction ex fix
If thub deformity then combine with thumb reconstruction at 18 months old.
What is this?
Can you describe the epidmiology?
Ulna Club hand
A congential upper extremity abnormality charcterised by a deficiency if the ulna and/or the ulna sided carpal structures
Epidemiology
5-10 times LESS common than radial club hand
Name some conditions associated with ulna club hand?
Not systemic cf radial club hand but…
PFFD= Proximal Focal femoral deficiency
Fibular deficiency
Sciolosis
Phocomelia- small limbs- Thalidomide
Multiple hand abnormalities- absent ulnar sided digits
What are the symtpoms and signs of ulna club hand?
Limited function
Usually painless
O/E
Shortened Bowed forearm
Decrease in Elbow function
Loss of digits
What is the classificaiton of ulna club hand?
BAYNE
Type 0= Deficiencies of carpus and/or hand only
Type 1= UNDERSIZED ulna with both growth centres present
Type 2= PART of ULNA is missing ( typically distal end)
Type 3= ABSENT ULNA
Type 4= Radiohumeral synotosis
Subtype of each classification based on 1st webspace
_A= normal _
B= mild deficienct of webspace
C= moderate to severe deficiency in webspace
D= Absent webspace
see link below for pics
What are the tx goals of ulna clubhand?
Tx depends on
Hand position, thumb function, elbow stability and syndactyly
Thumb condition most important factor for tx
What is the tx of ulnar club hand?
Non operative- STRETCHING and SPLINTING in early tx
Operative
Syndactyly release and digital rotation osteotomies done in 12-18 mo old
Radial head resection and creation of 1 bone forearm- in stage 2** **to provide stability at expense of forearm rotation, no gd option to restore elbow motion- not until child >6 mo
Osteotomy of synostosis- in stage iv to obtain elbow motion
What is congential dislocation of radial head?
How is it differentiated from truama?
Dislocation of the radial head
Differentiated by trauma by
occurs Bilateral
Hypoplastic capitellum
Convex radial head
Other congenital anomalies
What is the pathoanatomy of congenital radial head dislocations?
almost always - POSTERIOR dislocation of radial head
Combined with Bowing and Shortening of radius
What are the symptoms of congenital radial head dislocation?
What do you see on examination?
Symptoms: Asymptomatic but LIMITED Elbow ROM
OE
Radial head prominence
Limited elbow ROM especially in EXTENSION and SUPINATION
Usually painless
What is the Xray findings in congenital posterior dislocation of radial head?
Radial head Posterior to Capitellum
Radial head large and convex
Radius is short and bowed
Describe the tx of congenital radial head dislocation?
Non operative- Obeserve- 1st line
Operative- Radial head resection
Done in adulthood if pt has significant pain, restricted motion and cosmetic concerns of elbow
outcome of resection= reduce pain, may improve some elbow rom
What is Madelung’s deformity?
A congential DYSCHONDROSIS of the DISTAL radial PHYSIS that ->
Partial deficency of growth of volar and ulnar aspect of distal radial physis
Excessive Radial inclination & Volar tilt
Ulnar carpal IMPACTION
What is the Epidemiology of Magelung’s deformity?
Occurs predominantly in ADOLESCENT Females
Females X4 cf males
Common in gymnasts
What is the pathophysiology of Madelung’s deformity?
Disruption of the ULNAR VOLAR PHYSIS of DISTAL RADIUS
thought to be due to repetitive trauma/ dysplastic arrest
One hypothesis - tethering of Vickers ligament
VL- a fibrous band running from distal radius to lunate on volar surface of the wrist
Another is a pathologically thick radiolunotriquetral ligament
What is the genetics of Madelung’s deformity?
X LINKED DOMINANT Disorder
Name any associated conditions of Madelung’s deformity?
Leri- Weill dyschondrosteosis
suspect if bilateral, fhx, short stature
A rare genetic disorer
Mutation in SHOX gene- (short statute homeobox- containing gene)
Anatomically at tip of sex chromosome
-> Mesomelic dwarfism ( short stature)
Madelung’s deformity of the arm
What are the symptoms and signs of Madelung’s deformity?
Symptoms
Asymptomatic until adolescent then
Symptoms of ULNA IMPACTION
Median Nerve irriation
O/E
Leads to Radial and Volar displacement of hand
Ulna becomes dorsally prominent
Restricted forearm rotation- Supination and extension
Can you describe the investigations useful in Madelung’s deformity and what is seen?
Xrays- Proximal Synostosis
Overgrowth of volar, ulnar corner of radius
Increase radial inclination and volar tilt
MRI: concern re thicknened Vicker’s ligament- see thickening from dista radius to lunate
What are the Tx options in Madelung’s deformity?
Non operative- Observations only if asymptomatic
Physiolysis- resection of ulnar zone in distal radial physis and replace by fat so loosening Vicker’s ligament= for decreased rom /tightness in wrist
**Restricted activity- **atheletes w repeitive wrist impaction- cessation of weight bearing activities until pain ceases
Operative
Corrective osteotomy +/- Distal ulnar resection for pain, cosmetic deformity, functional limitations
Describe the technique of corrective osteotomy + distal ulna resection in Magelund’s deformity?
Goals - restore mechanics to distal radius
Approach- volar approach to distal radius
Technique-
Darrach’s - excison of distal ulna but risk of ulnar translatio of wrist.
Osteotomy distal radius ( closing wedge ) and shortening of ulna, conservation of DRUJ.- Salon et al 2000
staged in some with ex fix to avoid NV stretching
dome osteotomy allows coronal and sagittal correction
Sauve- Kapanje- if carpus subluxes off radius
What is congential radial ulnar synostosis?
An abnormal bony connection between the radius and ulna
As radius and ulna divide form distal to proximal at 7th wk of development
Synostosis is usually Proximal half
What is the Epidemiology and genetics of congenital radial ulnar synostosis?
Bilateral in 60% cases
FHX- Autosomal Dominant but can be sporadic
pts often have DUPLICATION in Sex Chromosome
What are the signs of congential radial ulnar synostosis
Children present 3-5 yrs
No pronation or supination
FIXED in varying degrees of pronation (50% pts have>50 degrees of pronation)
Pic below girl trying to supinate hands note that forerams are stil palmar
What investigations are useful and what do you see in congenital radial ulnar synostosis?
xray- Ap and lateral of forearm and elbow
see proximal synostosis
Radius is heavy and bowed
Chromosome analysis identify duplication in sex chromosome
What are the Tx of congenital radial ulnar synostosis?
Non operative- Observation- preferred if defomity is unilateral- most cases this is tx
Operative: Osteotomy with fusion: in rare severe pronation >60 degrees
** **aim to obtain function of pronation
if unilateral set pronation 10-20 degrees
if bilateral - dominant arm pronation 10-20 degrees, other supination 20-35 degrees
technique - use percutanoeus pins to aid fusion
preform at 5 yrs of age
resection and interposition proceedures fail of proximal radial - ulnar joint will reossify
