Monday, May 28, 2012

Fixator for Radial Longitudinal Deficiency (RLD)


We continue to favor a two- stage centralization procedure for RLD.  In the first stage, we apply a circular fixator to allow a slow, painless stretching of the soft tissues.  We know that in RLD, all of the radial (i.e., thumb) sided structures are abnormal and often tight.  By using the fixator before surgery, we can stretch the soft tissues and allow a much easier and more effective 2nd stage, the formal centralization surgery.  

In my experience, the problem with centralizing without using a fixator beforehand is that it can be difficult, if not impossible, to move than hand/ wrist onto the ulna bone.  And even if possible, there will be tension and it may require removing some portion of the wrist bones.   Both of these choices can affect the growth plate of the ulna (which will, in turn, limit the growth of an already short ulna).

The bottom line is that we believe the use of the fixator for a period of time before the centralization procedure is helpful in achieving the goals of surgery- wrist balancing.  There is some early information (yet unpublished) supporting these thoughts and demonstrating an improved outcome.  We are also in the process of analyzing our results.

Radial deficiency patient.  The fixator is about to be removed on the right and the wrist centralized.  Note the difference between the wrists (the left side has not yet been treated).


Friday, May 25, 2012

Cleft Hand Surgery


Cleft hand (Central Deficiency) reconstruction is a challenging surgical procedure.  This child’s hand demonstrates some of the difficulties.  There are 3 problems in the hand.  First, the space between the thumb and the index finger is narrowed which limits his ability to grasp large objects.  Despite his young age (2 years), mom and dad have noticed this difficulty.  Second, the obvious central cleft related to a complete absence of the long finger (middle finger) and its metacarpal bone.  He may use this cleft for function to make up for the thumb limitations but clearly not an ideal way to function.  Finally, there is ring/ small finger syndactyly (actually a partial syndactyly). 

We address all three issues when we surgically reconstruct this hand:

1) Rearrange the soft tissues of the thumb- index web space.  We use what is called a 4- flap z- plasty to deepen and improve the contour of the web space.

2) Cleft reconstruction in this case involves removal of extra skin between the fingers and tightening the space between the index finger and ring finger.  We use part of the tendon sheath of the two fingers to stabilize these 2 fingers in a more aligned, narrowed posture.

3) Partial syndactyly.  We utilized a dorsal flap to recreate the commissure between the fingers and then re- arranged the skin around this flap.

This reconstruction is difficult primarily because we are attempting to provide a better functioning and better appearing hand without the usual guiding landmarks to assist us.  Because none of the web spaces are normal, the judgment on how to best align the new web spaces is challenging.  The photographs below show before and after surgery.



Cleft hand before surgery
Cleft hand from palm view before surgery

Cleft hand with small space between thumb and index finger



Cleft hand immediately after surgery
Cleft hand after surgery

Cleft hand after surgery, palm view


Sprengel Deformity


Sprengel deformity is an uncommon condition in which the scapula (shoulder blade) on one side is higher in the neck than the other side.  Normally, during prenatal development, both scapula begin high in the neck and slowly descend toward their normal resting position in the upper back.  If, for unclear reasons, one scapula does not descend, a Sprengels deformity results causing two issues:

1) functional issues related to decreased motion of the arm.  Typically, the patient will have decreased forward flexion (raising the arm in front until straight above the head) and decreased abduction (moving the arm away from body in the plane of the body).
2) appearance issues related to the high scapula.  Essentially, it looks like a large bump in the neck.

When a Sprengel deformity is identified, associated conditions should be considered including Klippel Feil, scoliosis, cervical ribs, and torticollis.

Treatment depends on the severity of the condition- specifically how much the limited motion and abnormal appearance bother the patient/ family.   Therapy may be beneficial in improving motion but ultimately if a big enough problem, surgery is the best way to improve motion and appearance.

My preferred treatment is a modified Woodward procedure in which we removed the upper portion of the scapula (i.e., the prominence) and bring the scapula down to a more normal resting position.  The scapula is not normally sized and so we have to be careful not to overcorrect or bring the scapula down too far.  Depending on age, we may also perform an osteotomy (i.e., cutting) of the clavicle to reduce the risk of nerve injury during the procedure.   The preferred age of the surgery has gradually become younger and we prefer surgery between 3-8 years of age.  Younger patients may have a better outcome as judged by the improvement in motion.  Older patients can also have a very good outcome with improvement in motion and appearance.


Sprengel deformity at rest.  Notice elevated shoulder on left.
Sprengel deformity with limited arm elevation.

Xray of Sprengel Deformity.  Note bump in left shoulder compared to right.  That is the high shoulder blade.

Sunday, May 20, 2012

Arthrogryposis Arm Rotation



I want to share several other photographs to relate how happy our amyoplasia patients/ families have been with an external rotation osteotomy of the humerus (obviously in situations in which the arms are markedly internally rotated).  In this procedure, we cut the arm bone and rotate it out of the internally rotated position and put it in a more externally rotated position.  

This operation allows easier use of the hands together.  Compare the photographs of the children below.  In the first two pictures (before surgery), the arm rotation position makes it difficult to use the hands.  In the final picture (another child), one arm has been corrected and the other has not.

Internally rotated arms in arthrogryposis.  This is called reverse, pronated grasp.

Video game playing in child with arthrogryposis and internally rotated arm position.

After external rotation osteotomy on the child's right side and before surgery on the left.  The wrist has  also been corrected on the right (osteotomy) and the elbow released.

Sunday, May 13, 2012

Rubinstein- Taybi Syndrome

Rubinstein- Taybi syndrome is a rare disease related to a gene defect causing a protein abnormality.  Most cases are sporadic without other known affected family members.  One of the tell-tale signs of Rubinstein- Taybi syndrome is the presence of broad, deviated thumbs (clinodactyly).  Patients are typically short statured and may have slow motor and cognitive development.  There may be heart defects, hirsuitism, seizures, mental retardation, and facial anomalies.  There are reports of difficulties with anesthesia.


Thumb deformity (clinodactyly) in Rubinstein Taybi.


Resources
www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002229/
www.rubinstein-taybi.org/

Saturday, May 12, 2012

Robinow Syndrome


Robinow syndrome is an exceedingly rare condition which may be transmitted as an autosomal dominant or recessive condition.   Patients are short stature with the forearm segments classically most notably short (mesomelia).  The fingers and toes are also short (brachydactyly) and may be curved as well (clinodactyly).   There are classically spinal malformations, craniofacial anomalies, and abnormalities of the genitourinary system.

From a hand care perspective, there may be surgeries that can be done for the patient to help with function, primarily addressing the short fingers and thumb with limited motion.
Characteristic appearance of a patient with Robinow syndrome.  Note also the short fingers and thumb.

Hand in Robinow.  Note appearance of polydactyly
of the thumb.
Short fingers in Robinow syndrome.
Post surgery in Robinow syndrome.  Additional bone and finger nail have been excised.
The space between the thumb and index finger has also been widened.

Resources
ghr.nlm.nih.gov/condition/robinow-syndrome
www.robinow.org/
www.ncbi.nlm.nih.gov/books/NBK1240/
www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract

Sunday, May 6, 2012

Difficult Extra Thumbs


As with most medical conditions, congenital anomalies of the upper extremity have a wide range of severity.  No two conditions are the same although most can be categorized into groups with similar findings.  Patients with an extra thumb (also called duplicated thumb, split thumb, or radial polydactyly) can be severely affected as demonstrated below.  These pictures are of two different patients with extra thumbs that will be a challenge to reconstruct in surgery.

Extra thumbs on both sides, quite different

Radial polydactyly on the right

This child has very different anomalies on each side.  On the right, the outer thumb is clearly small and should be excised.  However, the "main" thumb is limited also.  It stays in a bent position and has three joints which makes it somewhat like a finger.  On the left, the two thumbs are "merged" together and will be difficult to separate.  Both are smaller than normal and if we simply remove one thumb, it will be very small.  Combining the two thumbs has the best chance to make one reasonably sized thumb.

Another difficult radial polydactyly

This thumb is also difficult to reconstruct.  It is a "Type 4" extra thumb with a zig- zag deformity.  The surgery is far more than just removing one thumb- the other thumb must be stabilized, tendons may need to be moved, and the bone may need to be cut and realigned.  





Form and Function in Radial Deficiency

There are a variety of factors which affect appearance and function in patients with radial deficiency (RLD).  Some of the major factors to consider include (not necessarily in order as it will vary from patient to patient):

Factors affecting appearance                                       Factors affecting function
1) Radial Deviation                                                     1) Length of forearm
2) Short length of forearm                                           2) Finger motion/ function
3) Presence/ status of thumb                                        3) Presence/ status of thumb

Other factors should be considered as well but I think these are less important.  These include forearm motion- rotation (lacking especially in those with severe RLD) and wrist motion (generally limited and tending towards flexion with a lack of extension).

Some of these may be addressed with surgery although none are completely correctable.
1) Radial deviation (which may also affect function) may be addressed through a centralization procedure.
2) The forearm can theoretically be lengthened although I am not a strong believer in this operation (for patients with a diagnosis of RLD) as I believe forearm lengthening has limitations and the procedure may have numerous complications.  I do believe that centralization "lengthens" the forearm by placing the hand and wrist back on the end of the forearm making the forearm longer.
3) Providing a thumb is clearly the "home run" surgery for children with RLD as it markedly improves both function and appearance.
4) Limited finger motion is difficult to address in RLD and in other congenital conditions.

In the photos below, I believe the short forearm in the most notable difference.  The wrist has been centralized and is generally well aligned.  The index finger has been pollicized into the position of a thumb and generally looks good although with careful assessment, it is noticed.

RLD with a short forearm and a pollicized index finger as a thumb. 

Another view of patient with radial deficiency