Saturday, October 17, 2020

An Unusual Pollicization Procedure

Radial polydactlyly (extra thumb) is a relatively common problem for those of us who treat kids with birth differences/ anomalies of the upper extremity.  Please see the following link for previous posts on the topic LINK.  Sometimes these can be treated by a "straightforward" procedure with excision of the extra thumb and stabilization of the primary thumb.  Other times a more complex surgery is required which can include a similar procedure + cutting and realigning the bones.  More rarely, other procedures are required.  This is one such case.  

This patient has an uncommon type of extra thumb.  There are really two issues.  First, there are really two extra thumbs.  And second, there are five fingers (including the most radial one being in the plane of the fingers).  



Unusual radial polydactyly (extra thumb)
Another view of Unusual radial polydactyly (extra thumb)



X-ray showing the extra thumb (or 2 thumbs) with 5 fingers.


Initially, we made a decision with the family to remove the extra thumbs.  Structurally, there is no 'great' thumb and creating a useful thumb would be difficulty if not impossible.  Instead, we focused on removing these thumbs and then better understanding if a second surgery would be necessary.  There was a possibility that the patient would be sufficiently function with a five finger hand.

Here is the hand after the first surgery.

View after surgery.  Now a 5- finger hand

5- finger hand after surgery 


Ultimately, we decided that additional surgery made sense for function primarily but also appearance.  This is a triphalangeal thumb that is largely in the plane of the fingers making pinch a challenge.  There are different approaches but we elected to perform the pollicization procedure and are pleased with the early results.


After pollicization surgery, 4 week visit


Another view after pollicization surgery


Another view after pollicization surgery




I believe that his new thumb to function really well.  It takes time for kids to start using the new thumb although each child is different- some start using it well at 3-4 weeks and for others, it can take 6 or more months.  Therapy is helpful, sometimes with simple actions like taping the thumb in an easy, functional position and other times with more deliberate functional assistance.

Thanks for reading,


Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

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Saturday, October 3, 2020

Early Action in Madelungs Deformity

Years ago, I met an 7 year young lady who came to my office with no complaints.  Mom brought her even though she had no hand or wrist pain and no functional limitations.  The reason for the visit was a strong family history of Madelungs deformity (mom and sister).  There was no clinical evidence of a syndrome and the patient was of normal height.  However, xrays did confirm very early, quite subtle Madelungs deformity of both wrists.

First, most of the time we do not have the opportunity to see patients so early.  The typical patient with Madelungs deformity presents at 11- 12 years of age with wrist deformity and perhaps some motion limits and pain.  Occasionally, a happenstance xray (maybe for a trauma) will pick this up or, as in this patient, a family history will lead a family to bring a younger brother or sister in for evaluation.   The classic example is a patient with Leri Weill dyschondrosteosis which includes Madelungs deformity, short stature, and short forearms (a form of dwarfism).   These patients have a more obvious clinical presentation and have a known genetic issue with the SHOX gene as noted in this link.  Another great site is OMIM.  

Second, the question of etiology is not completely clear.  We know that the distal radius growth plate (a specific part- ulnar and palmar) does not grow as it should.   This is likely the primary issue.  The role of a ligament tether is less clear.  This was first discussed by Dr. Vickers in Australia and we typically call the abnormal ligament by his name- the Vickers Ligament.  This structure is really a thickened short radiolunate ligament (a normal structure).  Whether this ligament is a cause of the radius deformity in Madelungs deformity by acting as a tether or whether it is a secondary effect is unclear.  However, there is some evidence that release of this ligament might be helpful.  This report is helpful and there is much anecdotal evidence as well.




This article describes a small group of patients treated with an open excision of the ligament without progression of the deformity.  My personal experience is mixed.  Sometimes this can work, other times it has not been successful.  Nonetheless, because this operation is straightforward, safe, and allows a fast recovery, it makes sense for many families as it offers the chance to avoid the bigger operations often required as seen here: Madelungs Surgery

The other option is an arthroscopic release of this ligament- this further simplifies the operation, the scarring, and the recovery.  We can release the short radiolunate ligament through this minimally invasive approach through pokehole incisions that disappear.

This patient was seen as a 7- year old.  There were subtle xray changes as you can see here.


Early Madelungs deformity of the left wrist, findings from 2015  


In some cases, the xrays are normal.  MRI can be helpful in these situations to assess the growth plate and a potentially abnormal short radiolunate ligment (Vickers ligament when it is thickened/ abnormal). 

The now 12 year old patient returned for a check up without complaint.  She is now 5 years after her small surgery.  No pain, no deformity.  Radiographs continue to show mild Madelungs.  We will continue to follow this patient for 2 additional years while her growth plates are open.





Thanks for reading,


Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

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Saturday, August 29, 2020

Syndactyly as part of a syndrome

Syndactyly is most commonly an isolated finding which we believe is "simply" related to a failure of the cells to regress during development.  This failure to regress means that the webspace does not develop ~ the 7th-8th week of gestation.  We know that the apical ectodermal ridge is involved and signaling mechanisms including FGF-8.  This manuscript from Al-Qattan (an expert and highly experienced hand surgeon) provides one pathway explanation: Al-Qattan publication 2019

While most kids affected with syndactyly are otherwise without a medical condition, there are a number of syndromes which can include syndactyly.  A great resource on this is OMIM- the Online Mendelian Inheritance in Man, If you search syndactyly at omim.org, 480 entries are provided.  A fascinating collection of conditions related to syndactyly.

One of these, #164200, is Oculodentaldigital dysplasia (ODDD), with more information at ODDD at OMIM.  ODDD is caused by a heterozygous mutation of connexin-43 gene, with the 6q22 gene.   There is a "typical" facial appearance and variable involvement of the hands, eyes, and dentition.  What is important from a hand surgeon perspective is that the hand surgeon may be the physician to make the diagnosis.  What this means, of course, is that hand surgeon should understand this diagnosis and work with a genetics team to confirm the diagnosis.  I first learned of this diagnosis from a mentor, Marybeth Ezaki who previously worked in Dallas.  Marybeth shared her work in this paper in the Journal of Hand Surgery on 73 patients: Ezaki paper.  

I was given permission to share the photos of a child with ODDD.  He is, obviously, incredibly cute, but I share here because his facial features are typical for this diagnosis.  His father is also affected and was treated by another mentor of mine, Paul Manske, many years ago. 



Syndactyly of the 4th and 5th fingers of both hands.  Note the classic facial features of ODDD.
Syndactyly of the 4th and 5th fingers of both hands.  Note the classic facial features of ODDD.


Syndactyly of the 4th and 5th fingers of both hands in ODDD.



Syndactyly of the 4th and 5th fingers of both hands in ODDD.


After complex syndactyly reconstruction with hyalomatrix in patient with ODDD.

Thanks for reading,

Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

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Sunday, August 9, 2020

Tight First Webspace

 The space between the thumb and index (pointer) finger is crucial for function.  We say that the thumb accounts for 40% of hand function - much of that function is related to grasping large objects in this 'first webspace'.   The thumb-index webspace, or as it is also called- the first webspace, can be tight or contracted for two basic reasons- a limitation present at birth or a limitation related to trauma.  


Birth differences leading to first webspace contracture

I have previously shared thoughts on the first webspace in arthrogryposis a few times, here is one LINK.  The first webspace can also be tight in other birth differences such as hypoplastic thumb, as seen HERE.  I have also previously shared thoughts on different techniques to deepen various areas of tightness.  This might be a little technical but here is that post as well, see link.

Trauma leading to first webspace contracture

When there is trauma to the hand, tightness or contracture can develop as well.  This may be a deep abrasion or a burn.  The abrasion type injury can happen on a treadmill when a child's hand is injured by the spinning treadmill.  Burn injuries are more obvious and can happen in various ways including grasping a coal or log in a cooking fire, falling into a campfire, or grasping something hot such as a curling iron.  Ultimately, the skin will heal but will contract and lead to limitations in function and in motion.  This type of injury is very common in underdeveloped countries that depend on cooking fires and are less common in more developed countries but certainly can still happen.


Thankfully, we have good treatment options.  If there is a straight-line burn scar, the goal is to break up the scar band with a z-plasty.  This can be highly successful. With a more complex contracture, a different type of procedure is required to break up the thicker, typically broader band.  Often we use a flap of normal tissue to rotate into the area.  The first webspace is a classic area to have a contracture and the dorsal rotation flap can be very helpful.  In this procedure we take normal skin and advance it into the first webspace.  We may have to release deeper tight tissues as well and sometimes even the deeper muscles.  We divide or excise the poor skin and use the skin flap to cover the areas. Sometimes, advancing this normal skin is enough but sometimes skin grafts can be required also.


Here is one example.  My 'before' pictures are limited but I believe you get a sense of the contracture.  I have also already drawn my flap on the skin- this is normal tissue.  Usually we can bring the thumb out about 90 degrees from the index finger.  In this case, the patient is limited to about 45 degrees.

Tight first webspace after trauma


Then we have good after pictures, 4 weeks later.  Notice how deep and wide the first webspace is.  The thumb can be brought 90 degrees from the hand.  The thumb moves normally again and there is healthy, soft skin in this critical area.

First webspace after advancement flap.  Notice the motion of the thumb.

Nice view of first webspace after deepening 


This patient has done well and I expect will continue to do well in the years to come.


Charles A. Goldfarb, MD              

email: congenitalhand@wustl.edu

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Sunday, July 19, 2020

Pollicization Long Term

Hello all.  I want to share a good result in a challenging pollicization procedure.  This patient has radial longitudinal deficiency with a poor, very limited thumb (we call it type 4 hypoplastic thumb).  The decision was made to excise the thumb and create a new one with the index finger (e.g., the pollicization procedure).  We know that this is a great procedure- I have blogged about this many times as you can see at this link:  http://congenitalhand.wustl.edu/search?q=pollicization

We also know that there are a couple of factors that affect the results after the pollicization procedure.      1. The severity of the radial longitudinal deficiency.  If highly severe and effecting the entire forearm- the results are likely to be worse.  
2. The quality of the index finger.  What we focus on is the motion- an index finger with good motion is likely to be a good thumb.  An index finger with limited motion will provide a thumb which is not quite a good.  Another factor is index finger alignment- when the index finger is crooked, it is likely to create a more limited thumb after pollicization.  But, the alignment can be carefully adjusted to improve over time.


We have a great series of pictures to share.  First, the pictures before surgery.  Note the really small thumb (we call it a pouce floutant, or Type 4 small thumb).  Also note how crooked the index finger is- this is clinodactyly and is very uncommon in this situation.
Hypoplastic thumb-  note how small and deficient it is.  Also see the deformity of the index finger.


Hypoplastic thumb with index finger deformity.  Patient is trying to make a fist and index finger does not bend well.  This makes an excellent outcome after pollicization more difficult. 



We performed the pollicization procedure around 2 years of age.  At the time, we also worked to straighten the new thumb by adjusting the growth plate.  The scar is a bit different from usual because we had to address the thumb growth plate.  See these pictures next.

After pollicization surgery.  Note that there still is deformity in the thumb as this will correct over time and with growth.  

After pollicization surgery.  Note that there still is deformity in the thumb as this will correct over time and with growth.  

After pollicization surgery.  Note that there still is deformity in the thumb as this will correct over time and with growth.  


We then saw him at 6 weeks after surgery- note how well he was already using the thumb.


Pinching 6 weeks after pollicization surgery

6 weeks after pollicization surgery

6 weeks after pollicization surgery.  There is still deformity but good alignment.  

6 weeks after pollicization surgery.  There is still deformity but good alignment. 



Here he is at 2 years after pollicization.  Again, I am pleased with the result and he is using his head regularly.

2 years after pollicization with excellent pinch.

2 years after pollicization at rest.



2 years after pollicization with improved deformity of the new thumb. 


Finally, here he is, 7 years after pollicization.  Here is a video showing his function.  He uses the thumb for everything.  While he uses the other hand as first choice (he is right hand dominant), the left hand and the thumb work great for him.




It will great to watch as he continues to progress.  This is an unusual pollicization but an excellent result despite different 'challenges'.



Charles A. Goldfarb, MD              
email: congenitalhand@wustl.edu

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Sunday, June 21, 2020

Radial polydactyly- progress and patient follow up



I have shared my thoughts on radial polydactyly (extra thumb) a number of times- those other posts can be found at https://bit.ly/3emosGU.  Radial polydactyly is a common diagnosis for those children with birth differences but each child and each extra thumb is also very different.  This makes comparing children difficult and results are limited in the medical literature.  I am excited to share two positive steps.  

The first is that our CoULD Registry recently completed an assessment of classifications.  First- what is CoULD?  This is a registry that we created to enroll and follow kids with birth differences of the upper extremity.  We have been enrolling kid for about 5 years and have over 3200 patients at 10 different sites.  Really exciting as these patients will teach us so much and help us better understand these birth differences.  Here is the website for more information: https://kidshandregistry.com/.   

Working with different sites (Ann Van Heest in Minneapolis led this study) we evaluated hundreds of children with an extra thumb to better understand the classification systems available to us- this paper will be published soon and will be an important step forward!

The second exciting potential is that we applied for a grant to further understand the genetics of radial polydactyly.  While we won't hear about the grant for another 6 months, we are super excited and have a grant team in place to move this effort forward!

Now, I would like to share the 4 year outcome of a great patient with radial polydactyly.  This is type 4- meaning that the extra thumb comes from the MCP joint.  These thumbs are not terribly divergent (i.e., they are not going in the opposite directions) but the surgery still required a realignment and ligament construction to make it straight and functional.

Here are the before surgery pictures:

Radial polydactyly, type 4

Radial polydactyly, type 4 from palm side


Surgery entailed a carefully designed incision of the skin, removal of the extra thumb, reconstruction of the ligament, and bony alignment improvement.  We placed a temporary pin and casted for 6 weeks.  

Thumb polydactyly reconstruction with pin in place

Thumb polydactyly reconstruction with pin in place

Radial polydactyly xray in operating room with pin in place

The patient returned recently for the 4- year followup and he is doing great.  The thumb has very good but slightly decreased motion compared to the opposite side and good alignment.  There is no pain.  There is, as we expected, a size difference.  That is impossible to correct.  However, it is also very difficult to notice unless the thumbs are placed next to each other as we have done in these pictures.


Comparison of thumb size.  Note the slightly smaller right thumb


Thumb flexion (bend) is good but not quite the same as the normal left thumb after radial polydactyly reconstruction


Alignment after radial polydactyly reconstruction

Side view of thumb after radial polydactyly reconstruction


Every patient is different and this is a very good outcome.  We do watch as the patient grows to assure no changes to alignment or function.

Charles A. Goldfarb, MD              
email: congenitalhand@wustl.edu

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Sunday, April 19, 2020

The Elbow in Birth Differences of the Upper Extremity

The elbow is not commonly discussed around the topic of birth differences of the upper extremity.  We discuss fingers, wrist, and forearm most commonly.  The shoulder is also occasionally involved but much less so compared even to the elbow.  My goal in this blog post is to highlight some of the birth differences that may include elbow involvement.  This post is not meant to be a comprehensive discussion of each of these many topics (rather, see the many other posts on these topics).

The elbow is made up of the three joints:
1) the ulnohumeral joint which allows flexion and extension (bending and straightening).
2) the radiocapitellar joint which helps with forearm rotation.
3) the proximal radioulnar joint also helps with forearm rotation

These conditions can interrupt normal function of any one of these joints.

1) Radial longitudinal deficiency (RLD) does not truly affect the elbow as the ulnohumeral joint is normal.  However, when the radius is completely absent (type 4 or 5) it does affect the forearm (absent rotation).
RLD with absent radius bone.  The ulna is relatively normal (slightly short).  The hand and wrist are clearly affected.

2) Ulnar longitudinal deficiency (ULD) affects the elbow joint through the ulnohumeral joint.  Without a normal ulnohumeral joint, elbow flexion and extension may be limited.  In addition, there can be fusion (or joining) of the radius to the humerus which prevents any movement of the elbow joint at all.   And finally, depending on the exact issues, the radial head may be dislocated.

ULD showing a short ulna and a curved radius bone with a dislocation of the radial head.


3) Radial head dislocation occurs when the radial head does not line up with the capitellum.  While this can be related to trauma, often it is related to a birth difference.  Sometimes this has a minimal effect on function but sometimes forearm and elbow motion may be limited.

Patient with dislocation of the radial head (it is sitting too high in the picture).

4) Radioulnar synostosis is when the radius and ulna are fused together.  This limits rotation of the forearm.  Sometimes the radial head can be out of position as well (radial head dislocation).

Normal forearm and elbow
                                  Synostosis of the radius and ulna.  Note the bony bridge between the two forearm bones.


5) Arthrogryposis affects the muscles in the upper extremity and, due to muscle stiffness, can also affect the joint mobility.  The elbow is classically in a position of full extension (i.e., straight) which makes function difficult.

6) Transverse Deficiency/ symbrachydactyly occurs when there is an amputation at the proximal portion of the forearm.  There may or may not be nubbins on the end of the forearm.  The elbow may be normal but occasionally, and especially as kids get older, there can be grinding and discomfort in the elbow joint itself.

Forearm level amputation just past the elbow, symbrachydactyly with nubbins.

7) Ulnar dimelia (mirror hand) occurs when there are two ulna bones in the forearm and no radius bone.  There often are 7-8 fingers as well (with no thumb).  The two ulna bones means that there is no forearm rotation and elbow flexion and extension can be limited as well.

Ulnar dimelia with two ulna bones and no radius.


While there are many other birth differences that affect the elbow joint, these are the most common and the most notable.  Please refer to other posts for more details.

Charles A. Goldfarb, MD              
email: congenitalhand@wustl.edu

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