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              

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Sunday, March 29, 2020

Congenital Differences- Timing of Intervention in the era of COVID-19

March 28, 2020

We are in an unprecedented time.  COVID-19, the coronavirus which began in Wuhan Province in China in late 2019, has impacted our world in many ways.  Medical centers in the US and Europe are in a time of crisis as they prepare for or are in the midst of the pandemic.  In the US, in large part but curiously not at all sites, elective surgery has been halted, indefinitely.  Generally, most centers (perhaps unless the center is in a 'hot zone') have a similar approach in that, time- sensitive surgeries may proceed as needed.  That means that emergency surgery (typically trauma) can be treated surgically but other surgeries are carefully considered and most are being delayed.  The logic behind these decision are around social distancing, keeping patients and healthcare providers safe, and preserving PPE (personal protective equipment).

How will these restrictions affect upper extremity surgery for congenital differences?  What happens if your child's surgery for a congenital difference is delayed?  Thankfully, in large part congenital difference surgery is not time sensitive.  Waiting is, in all likelihood, ok.  We consider a few factors when recommending surgery:

1) We consider surgery at an age when safe for the child.  The risks of early surgery are debatable and there has been much discussion about the impact of surgery at a young age.  There are concerns that anesthesia exposure may increase the risk of behavioral issues or conditions like attention deficit disorder.  We believe that relatively short surgeries are safe.  And single surgeries are likely safer than a number of surgeries. However, delaying surgery, especially in these times, might make sense if the condition does not require intervention as noted below.

Certainly, we avoid surgery in the very young child due to specific anesthesia risks related to age and size.  While surgery is safe at even 3 months of age, we try to avoid intervention until at least 6 months of age for surgeries with some urgency.  For more elective surgery, often 12-24 months, is our preference.  Again, we can wait longer in most conditions.

2) There are few conditions that may have urgency.
     a) a newborn with an arm or finger with compromised blood supply.  These are very rare and may be related to neonatal compartment syndrome (if identified early and still in evolution) or amniotic constriction band, tight around a finger or extremity.  If a condition such as one of these is identified, urgent surgery is considered.
     b) Syndactyly on a border digit.  That means ring- little finger syndactyly and, more importantly, thumb- index finger syndactyly. The idea is that the longer digit will be tethered and likely deviated in some way by the shorter digit.  We often consider surgery at approximately 6 months of age for children with these conditions.
     c) Some syndactyly surgeries related to amniotic band may benefit if all the fingers are tethered.  If the digits are freed early, a remarkable improvement can be seen.  Here is one example of tethered digits.

Amniotic constriction band with tethered digits

3) The timing of surgery as relates to school is another condition.  We aim to have surgeries complete prior to kindergarten.  While this is not always possible, it is helpful.  That way, school is not interrupted and the child may be more comfortable with and 'used to' the condition.  Function is often improved after surgery and this can help with advanced, age related activities such as scissor, etc.  Therefore, a surgery planned at two years of age can often safely be delayed until three years of age.

4) Other surgeries.  The timing of more typical congenital difference surgery is often based on surgeon preference and hospital protocols.  For example, there is little to guide us on the timing of 'typical' syndactyly' surgery although at least one paper has suggested that later surgery is better.  Most of us believe that surgery at 18 months is a good time.

Another example is radial longitudinal deficiency.  Surgery can be considered almost anytime although surgery at or after 18 months is our preference.  But, if a series of surgeries are planned, an early start may be helpful.  For example, a child might have an external fixator placed at 18 months of age, a centralization procedure at 24 months of age, and a pollicization procedure at 30 months of age.  Sometimes the pollicization can be accomplished at the time of centralization but we often separate.  AND, if both sides are affected, bilateral surgery can be considered but may be too much for the patient and the family. Tough decisions.

I hope this is helpful.  Post questions on specific surgeries and I can share my personal protocols and also share our feelings on risks (or safety) for delay.

Charles A. Goldfarb, MD              

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Saturday, March 14, 2020

Radial Deficiency Outcome

Radial deficiency (or radial longitudinal deficiency, RLD) is one of the most challenging conditions that I treat.  We classify patients with RLD based on their bone development but that does not capture the underlying muscle and joint abnormalities.  Reports on treatment including surgery have been mixed and that has led hospitals and doctors to have different recommendations on procedures to consider.  And I agree, there is no one correct answer and every patient is different.  Sometimes that is obvious (one side affected vs both sides) or completely missing bones vs partially missing bones.  Other times it is less obvious and related to muscle strength, finger motion, and joint deviation.  I have posted many times before on this topic as you can see HERE.  There are also numerous resources regarding radius deficiency on the internet but many are hospital sites promoting care and others are references to scientific papers.  We in St. Louis have an algorithm for treatment based on what surgeries and interventions that we have found successful.  This includes therapy and different forearm, wrist, and thumb surgeries based on various factors.

I have been fortunate to treat many great patients and families with RLD and other diagnoses.  This is one of those patients/ families who happens to have RLD.  It starts with the perfect sweatshirt!  The right side has an absent radius, limited finger motion, and a radially deviated and flexed wrist.  The left side has better alignment, normal finger motion and a nearly normal radius bone.  The difference in motion of the forearm, wrist, and fingers is striking.  Both sides have had wrist surgery and both sides have had a pollicization (creation of a thumb from the index finger- more information HERE).  The patient clearly favors her left arm but uses both hands together for some activities.

Here are some pictures of the patient with RLD including both arms and an x-ray. 
Patient with RLD, right side more affected than left.

Patient with RLD, right side more affected than left.
Good elbow motion on both sides.  More deformity on the right.

RLD on both sides but more severe on the right.

Here is a video demonstrating function.  Very good overall on the left and pretty good on the right. 

Charles A. Goldfarb, MD              
My Bio at Washington University     

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Saturday, March 7, 2020

Syndactyly: The Type Matters.

Syndactyly, simply put, means joined fingers.  However, there are a number of different types including:
- cutaneous (or simple)- only a skin connection
- Complex-  with a bony connection
- Complicated- with an associated syndrome
- Partial vs complete (whether part way or completely to tip of finger).
- Complex polysyndactyly.  That is, extra bones and bony connections.

The partial cutanous syndactyly type is the most common followed by cutaneous complete.

The treatment philosophy for each of these syndactyly types is similar but the details and outcomes can vary.  For example, we shared the results of treatment of only patient with complex syndactyly (bony connection) with this Manuscript.  There has been very little shared on this topic although a variety of papers on syndactyly include a few patients that are more complex.  Our goal in writing this manuscript was to focus on outcomes.  And we found that these patients did not do as well as other patient types and had rotational deformities and nail abnormalities at a rate which was higher than other syndactyly patients.

We also have written about complex polysyndactyly.  This type of syndactyly is even less common and we sought to provide some framework to classify these patients HERE. 

I have previously written about kids with syndactyly- those entries can be found HERE.

I want to briefly share images of a child with complex polysyndactyly.  This child has an extra bone and joined central fingers.  The thumb, index, and little finger are normal.  The middle and ring finger are joined with an extra bone between.
Central polysyndactyly. 

Central polysyndactyly.  Note the joined central bones and extra bones.

Palm side view of central polysyndactyly.

Syndactyly surgery aims to separate the middle and ring fingers, remove the extra bones, and reconstruct the skin to provide a long term good outcome.  We hope to avoid skin creep or scarring from causing problems with the skin- specific skin incisions are chosen for this purpose.  Finally, we want the appearance to be as close to 'normal' as possible.

In this case, we performed a syndactyly reconstruction with a skin graft substitute, a dermal substitute called hyalomatrix.  This avoids the need for skin grafting.  These pictures show a nice reconstruction near the hand (the commissure).  The sides of the nails (the lateral nail fold) are also not quite perfect despite efforts to perfectly reconstruct that skin (we have to create that tissue).  The scars are slightly prominent at 4 months after surgery but we expect that will improve with time.  Finally, the hand looks great from the palm view with nice web space and alignment.  The xrays also show a nice separation and bony appearance.

Hand after reconstruction of complex central polysyndactyly

Hand after reconstruction of complex central polysyndactyly

Xray after reconstruction of complex central polysyndactyly

Hand after reconstruction of complex central polysyndactyly

We will continue to follow this patient until growth is done.  This will help early identification of any skin tightness or creep of tissues which may occur.  But, function should be excellent and the appearance should continue to get better over time.

Charles A. Goldfarb, MD              
My Bio at Washington University     

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Sunday, March 1, 2020

Two different thumb birth differences

The thumb is our most important digit.  In the adult, we estimate that it affects about 40% of hand function.  So, a thumb that is not fully or normally developed may really affect our abilities- whether that be strength, motion, dexterity, etc.  I have written a number of posts (See HERE) about the thumb but thought I would share a few pictures and xrays of two patients with different thumbs.

The first patient has an extra thumb.  These come in a number of different patterns.  In this case, the extra thumb is smaller and less functional than the normal thumb.  The more normal thumb is still smaller than the opposite side but has good structure and tendons. 

Thumb polydactyly (extra thumb).  The outer thumb is not normal.
Thumb polydactyly
Surgery entails removal of the extra, outer thumb and reconstruction of the main thumb.  While it is not completely normal, it should function at a high level.  The pin stays in 5-6 weeks with a cast.  Then the cast is removed, the pin is removed and therapy is begun.

Thumb polydactyly after reconstruction with excision of extra thumb, ligament reconstruction, and pinning.

Thumb polydactyly after reconstruction with excision of extra thumb, ligament reconstruction, and pinning.

The other case is an extra bone within the normal thumb.  The thumb is different than the fingers.  The fingers have 3 bones, three phalanges.  The thumb normally only has two.  A triphalangeal thumb is more like a finger with 3 bones.  Sometimes it otherwise seems like a thumb and sometimes it can rest like a finger.  With an extra bone, the thumb is longer and may be more deviated (the extra bone is often not normally shaped).  It also bends and functions differently.  We often (but not always) consider surgery for these patients. 
Triphalangeal thumb.  Note some deformity, angulation

Triphalangeal thumb x-ray. See the small bone in the middle of the two other bones.  

We removed the middle bone, reconstructed the supporting ligaments, and adjusted the tension on the tendons.  This patient should also do well with a strong, aligned thumb for the future.  Sometime motion takes time to recover but most patients have a highly functional thumb after this surgery.

Triphalangeal thumb after excision of the abnormal bone.

The patient's other side.  More deformity with the triphalangeal thumb due to the triangular shaped bone.

These are just two examples of birth differences of the thumb.  Both of these patients should do well over the long term with strong, stable, well aligned thumbs.

Charles A. Goldfarb, MD              
My Bio at Washington University     

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Sunday, February 16, 2020

Recurrent Syndactyly

Syndactyly is the abnormal connection between fingers- typically skin connection but sometimes bony connection (called complex).  I have written much about it HERE.  There is also information on the internet including some basic information on Wikipedia, NIH, and numerous hospital websites.  While syndactyly is one of the most common congenital upper extremity diagnoses, treatment is not perfect and 'failures' occur including, most commonly, recurrence of the skin with a process of 'creep' of the skin.  The other issue is a contracture or banding that limits finger straightening after surgery.  These problems typically are not present right after surgery but often appear years later.  What often happens is that the scarred skin does not grow or stretch with bone growth during childhood.  Certainly, that is a simple explanation and it is part of a more complex process.  In my experience, these are more common and worse with complex (bony) syndactyly but can occur with any type of syndactyly (partial, complete, etc).

We wonder about the risk of recurrence and surgeon experience.  I am definitely biased but I believe that recurrences and complications after surgery are less common when the treatment is provided by someone who treats these conditions on a regular basis.  We know that this is true for some diagnosis like joint replacement and hospital volumes- see HERE.  But, again, this is less clear for less common diagnoses like syndactyly.  Nonetheless, my advice for any parent is to make sure you are 1) comfortable with your surgeon's interactions and approach and 2) comfortable asking about the surgeon's experience with your child's diagnosis.  If the surgeon becomes difficult or doesn't like the question, that may mean that his/ her volume is not high.  This does not mean that the surgeon is not good, it just means that they do not perform this surgery commonly and I believe that this is a key factor for success.  The opposite is also true.  Just because a surgeon may perform an operation commonly, the surgeon may still have less than perfect outcomes.  So--- this is tough to sort out.

Here is an example of a recurrent syndactyly. There is web creep- the skin has crept out the fingers and a contracture or banding.  The right and left hands were both treated at an outside hospital.  Again, I am not suggesting anything was done incorrectly although the outcome on both sides is less than ideal.  I am showing before surgery and after surgery (hands are mixed).  There is creep of the skin, rotation of the fingers, and a band limiting finger motion.  There is also clinodactyly- a curvature of the small finger because the middle bone is not the typical rectangular shape.  This can be addressed at the time of surgery.

Recurrent syndactyly with creep of the skin, rotation of the fingers, and curvature of the little finger.
Recurrent syndactyly with creep of the skin, rotation of the fingers, and curvature of the little finger.  The banding is causing a contracture of the finger and rotating the finger.

This xrays shows the clinodactyly or curvature of the little finger.
Clinodactyly related to the abnormal middle phalanx on the little finger.

Surgery deepens the web space from the recurrent syndactyly, breaks up the banding, and interrupts the abnormal growth plate affecting the little finger middle phalanx.  This is done through rotation of the skin and skin flaps designed to accomplish these goals and prevent future problems.  These pictures are about one year out from surgery.  The finger alignment will continue to improve but there will always likely be some hint of rotation.  There is full finger motion (straightening was limited before).

Results after correction of recurrent syndactyly including deepening of the webspace, breaking up the band and addressing clinodactyly

Results after correction of recurrent syndactyly including deepening of the webspace, breaking up the band and addressing clinodactyly

Syndactyly surgery may be considered 'simple' surgery by some.  I do not think that it necessarily is.  Experience matters and designing the best flaps, using skin grafts when necessary, and addressing all issues are all important.  When necessary, revision surgery can really be helpful as shown here but, obviously, we would love to avoid the need for revision surgery in syndactyly whenever possible.

 Charles A. Goldfarb, MD              


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Thursday, February 6, 2020

Cleft Hand: Beyond the Basics

I have posted numerous times on cleft hand. (See other posts.)  In my world, this is a still an unusual diagnosis and can be challenging as each child is somewhat different than the next.  The early and late treatment of cleft hand, therefore, has to be considered for each child.  

Late treatment in cleft hand is usually related to one of a few issues.  The first is muscle weakness, typically related to the lack of muscle development in the cleft.  Another issue that we see in cleft hand include instability of the MCP joints (the joints that connect the hand to the fingers), especially the index finger and the ring finger.  In addition, we often see challenges with straightening the PIP joints (main knuckle in the finger)- this is due to a lack of muscle in the hand which should straighten the finger.  Thankfully, despite these three issues, patients with cleft hand usually are highly functional and without pain.  This example shows another issue- finger alignment.

Here is an example of a great child and family who I have followed since birth.  Early surgery improved function and appearance for both hands.  As he has gotten older and more active, he has been frustrated around function and specifically that his left hand index finger (pointer finger) is pulled away from the rest of the fingers.  He can bring it back towards the next fingers but only by pushing with the thumb.  

Cleft hand with abnormal positioning of the index finger

Cleft hand with abnormal positioning of the index finger
The finger is able to be brought to the midline but only with thumb pressure.

Cleft hand with abnormal positioning of the index finger

Cleft hand with abnormal positioning of the index finger but excellent motion.

This video is really interesting and shows this nicely.  Watch how he uses the thumb.

After much discussion over a year, we decided to cut the bones and realign the index finger as well as tighten the ligaments to better support the finger.  This type of ‘touch’ up surgery in cleft hand can be highly successful, but we always think and talk a lot about it before actually proceeding with the surgery because we would never want worsen function or appearance.  In this case, I am happy to show, surgery has been very helpful and has increased activity, dexterity and appearance.

Surgery like this is an outpatient procedure, meaning the patient comes in for surgery and can then go home the same day.  The index finger proximal phalanx was cut and realigned and held in place to heal with pins.  

Bony reconstruction in cleft hand.

Cleft hand surgery.

The ligament on the midline side of the index finger (the ulnar collateral ligament of the MCP joint) is tightened (we also pinned this joint during the healing process).  After about 6 weeks, the pins were removed, therapy begun, and activities progressed.  These pictures and video are at 3 months.

The pictures after surgery are also helpful.
Cleft hand after reconstruction showing improved alignment. The patient can keep the index finger in the midline.

Cleft hand after reconstruction showing improved alignment. The patient can keep the index finger in the midline.
Cleft hand with surgery on both sides.
Charles A. Goldfarb, MD              


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