Sunday, September 22, 2019

Distal arthrogryposis, before and after

Distal arthrogryposis is very different from AMC or other forms of arthrogryposis.  By definition, distal arthrogryposis includes joint tightness (contractures) in the hands and feet.  Here is an excellent Link from NIH.  I have also previous posted on distal arthrogryposis, those links can be found HERE.

I wanted to share some early results on a 5 year old patient with distal arthrogryposis.  This patient had surgery 3 months ago on his right hand and is planned for surgery on the left.  There were two goals with surgery- free the tight thumb while placing it in a better position for function AND releasing the tight middle finger (camptodactyly).  This patient is helpful as an example because the surgically treated right hand previously looked almost exactly like the left hand looks today. 
Distal arthrogryposis, right hand, after surgery.  Note the position of the thumb and middle finger.

Distal arthrogryposis, left hand, before surgery.  Note the tight thumb and middle finger.

These two videos emphasize the same points on distal arthrogryposis of the right hand after surgery and the left hand before surgery.  I apologize for my video skills (trying to multitask) but the improved positioning on the right is striking while recognizing that the hand still has limitations.




The family is very pleased and have noticed functional improvements already. Surgery included
1) Flap to deepen thumb- index web space with release of contracture
2) Stabilization of thumb MCP joint
3) Release of tight PIP joint of middle finger
4) Flap to release tight PIP joint

Charles A. Goldfarb, MD              
My Bio at Washington University     
email: congenitalhand@wustl.edu

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Thursday, September 19, 2019

Fixators for Lengthening. Fun?

External fixators are devices that rest outside of the skin.  They can be used to stabilize broken bones (although not used very often for this purpose today) or to correct a short or angled extremity/ bone.  We use fixators to lengthen small bones such as the thumb to allow pinch or to grow the forearm to assure that the two bones of the forearm are nearly the same length.  The forearm is interesting because if the bones are not the same length, the wrist can deviate and/ or the elbow can dislocate or shift out of position.  Neither of these are good.  So, if we can avoid those problems by lengthening the short bone, it can be a real help.  I have previously blogged about fixators of different varities HERE.

There are three common reasons why we lengthen a forearm bone
1) Multiple hereditary exostosis (MHE).  In this case, the ulna is often short and the radius is at risk for dislocating at the elbow.  See my other posts on this topic HERE.

2) Radial longitudinal deficiency (RLD).  In this case, the radius is short and, if there is a radius present, it can be lengthening to balance the wrist.  See other posts HERE.

3) A trauma or injury which affects the growth plate of the radius.  This may be a fracture near the growth plate of the distal radius which affects growth and leads to a long ulna.  Or, an infection of the growth plate can have the same effect. 

This patient had multiple infections around the time of birth.  The infection affected her thumb and index finger and has led to a short radius.  We have elected to lengthen her radius with a fixator to achieve balance and hopefully avoid future problems.  Here are x-rays showing the short radius bone.

Short radius related to infection affecting the growth plate

At the time of surgery, we applied a fixator to lengthen the bone.
External fixator to lengthen the radius.  The cut in the one (osteotomy) is visible- this is where we will lengthen the bone
over time.
The idea is that with slow stretching of the bone, the bone will grow.  Typically we 'turn
the dial' on the fixator 2-4 times each day.  This lengthens the bone from 1/2 of a millimeter to a full millimeter each day.  We do this slowly to allow the body to make enough bone so that after we lengthen (and then give the bone time to get stronger), we can remove the fixator and the bone will be strong!  The fixator is on the arm different times for each patient depending on how much length is needed and how much bone is created.

This young lady shows that the fixator is no big deal!  She has had her fixator about 2 weeks and is doing really, really well with it.  Super cute and, surprisingly, a little shy here.



Thanks to mom for allowing her daughter to share her experience!  What an amazing kid and amazing family.  I have had the pleasure of knowing this family since shortly after birth and I am so happy to have had this chance to get to know them and watch her grow!

Charles A. Goldfarb, MD              
My Bio at Washington University     
email: congenitalhand@wustl.edu

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Sunday, August 18, 2019

Forearm Synostosis

The forearm typically has two bones, a radius and an ulna.  The benefit of having two bones is that it allows the radius to rotate around the ulna.  This means we can position the hand palm up and down.  This is functionally helpful but not functionally mandatory as there are many ways to make up for limited or absent forearm rotation.

One of the most common conditions that affects forearm rotation is a joining of the two bones- a radioulnar synostosis.  Developmentally, the bones just don't ever completely separate.  So the condition is present at birth but may not be picked up on until later.  If the forearm bones are stuck with the palm all the way down or up and if both right and left sides are both involved, it is more likely to be obviously at a young age.  However, if only one side is affected and if the forearm is fused in neutral (i.e., hand clapping position), the condition may not be diagnosed until 7-9 years of age or even later.

Here are a few older posts on the topic:
Radioulnar synostosis Post 1
Radioulnar synostosis Post 2

Here is a great kid explaining his radioulnar synostosis.  It affects only his left side.  There is NO pain.  His function is great but not perfect as you can hear him describe.  We are going to watch him for now.  If problems develop over time, there may be treatment but, as I explained to this family, we are unable to restore motion of the forearm.  He will no limitations with activities.




Charles A. Goldfarb, MD              
My Bio at Washington University     
email: congenitalhand@wudosis.wustl.edu

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Friday, July 5, 2019

Only a thumb. Amazing outcome!

A child with a single digit may have one of two primary diagnoses.  If there is a single digit
- most resembling a little finger, the diagnosis is likely ulnar deficiency
- most resembling a thumb, the diagnosis is symbrachydactyly

Other diagnoses affecting the fingers include amniotic band syndrome which typically affects the central digits and causes shortening of several digits with banding and possible scarring at the fingertips (fenestrated syndactyly).   Cleft hand also affects the central digits, most commonly causing an absent middle finger.  And, lastly, radial deficiency typically may cause a small or absent thumb.

Symbrachydactyly can present in multiple different ways- see my previous posts HERE.   In a patient with symbrachydactyly and only a thumb, the functional need is for a digit (post) to pinch against.  This post will make the hand the best possible helper hand for the normal opposite hand (the opposite hand is normal in symbrachydactyly).   Without this post, the function of the thumb, and therefore the hand, is limited.

This child is five years of age and was born with symbrachydactyly.  He had only a single digit, a thumb, on the left.  Because there was a reasonable soft tissue envelope at the index finger area, we elected to perform a nonvascularized toe graft.  The idea is to bring a phalanx from the foot and place it in the hand to lengthen the digit.  This is somewhat controversial as the phalanx may or may not grow after transfer.  I have previously blogged about it HERE. 

Here are a few pictures of this amazing child with symbrachydactyly.  The first set of pictures is before surgery and immediately after the toe transfer.

Symbrachydactyly with a soft tissue envelope but no bony support of the index finger

Symbrachydactyly with a soft tissue envelope but no bony support of the index finger

Symbrachydactyly after toe transfer.  The blue cap covers the pin stabilizing the transferred bone until healing.

Symbrachydactyly after toe transfer.  The blue cap covers the pin stabilizing the transferred bone until healing.




This next set of pictures is several years after surgery.  Note how good the index finger looks and how great a post it makes for the normal thumb.  The toe phalanx has clearly grown making a great finger!  The donor site is the 4th toe and it does not look great without the phalanx.  But, the foot causes no problems and the hand is better off after the surgery.
Symbrachydactyly post reconstruction of the index finger

Symbrachydactyly post reconstruction of the index finger

While the hand looks great with a longer index finger, the foot shows clear sign of the toe transfer.


Finally, here are two videos showing function.  The first demonstrates the dexterity of the thumb and reconstructed index finger after reconstruction.



The next video shows what a helpful prosthetic can do.  In this case, as the patient has tried to learn to ride his bike, he has struggled with only the thumb and index finger (later, these two digits will be enough for bike riding and most activities).  With a simple passive prosthetic, the fingers are essentially lengthened and riding the bike becomes no problem!  The prosthetic is great for riding but is not really worn at other times, especially given his overall outstanding function!


                                       

Please note: mom gave consent for me to include these videos and pictures.

Charles A. Goldfarb, MD
My Bio at Washington University
email: congenitalhand@wudosis.wustl.edu

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Wednesday, June 19, 2019

Severe Camptodactyly

Severe camptodactyly can be a challenge as it will limit function and may cause pain.  This is less common in childhood and more common for the adult with untreated camptodactyly.  I have previously shared thoughts on camptodactyly HERE.

Treatment of camptodactyly in the child begins with therapy.  Depending on the nature of the camptodactyly, this may be curative or may provide sufficient improvement to avoid the need for surgery.  Rhee, et al (including senior author Baek) showed how effective therapy can be, especially in the younger population MORE INFO HERE.  In those patients that remain with functional challenges after failing 3-6 months of therapy, surgery for camptodactyly can be helpful.  We have shared our approach in the Journal of Hand Surgery HERE..  We do not regularly perform a tendon transfer to power extension (straightening) as we fear the finger may be stiff and straight which is a bigger functional challenge than the finger that will not completely straighten. 

The concern with untreated, severe camptodactyly is the development of arthritis at the PIP with permanent stiffness and pain,  That, indeed, is how our patient presented.  He had isolated camptodactyly of the ring and small finger.  The fingers interfered with function given their severe flexion posture.  He did not have other medical conditions and requested surgical intervention.  Unfortunately, as might seem obvious, if there is arthritis, the option of providing additional motion through releases does not make sense.  Therefore we elected to proceed with fusion of the PIP joints in a better functional position with the idea that this would address the pain as well as improve function.
Xrays in severe camptodactyly

Severe camptodactyly of the ring and little fingers

Severe camptodactyly but with maintained flexion of the fingers.





















This patient underwent succesful fusion surgery.


PIP joint fusion for severe camptodactyly


I do not routinely push for surgery in camptodactyly.  I give families that option if therapy fails.  I explain why I think it will be helpful for function (and appearance).  But I never consider it mandatory.  This patient, and patients like him, illustrate the danger of untreated camptodactyly- that is- worsening posture which interferes with function and potentially arthritis at an early age which causes pain.  These risks should be made clear to those families hesitant to consider surgery for camptodactyly (when the patient has failed therapy).

Charles A. Goldfarb, MD
My Bio at Washington University
email: congenitalhand@wudosis.wustl.edu

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Saturday, June 8, 2019

Distal Arthrogryposis- thoughts and techniques for treatment

Distal arthrogryposis is defined as multiple contractures affecting the hands and feet.  This can include the thumb, fingers (camptodactyly) or clubfoot.  Our understanding of these conditions continues to expand and these sites each provide great information:
Rare Disease site
Genetics site
OMIM


While distal arthrogryposis may be lumped as a diagnosis, the diagnosis can also be subdivided into different types as the links above clarify including Type 1, Type 2B, Freeman Sheldon, and more.  Each type of distal arthrogryposis is somewhat different in presentation, genetics (including identified genes and inheritance pattern), and more.  The severity of involvement of the fingers, thumb, etc vary notably from type to type and patient to patient.  This is what make arthrogryposis patients so difficult to treat and so difficult to predict outcome from treatment.

I have previously posted several times on camptodactyly which means bent finger. 
Post 1
Post 2 and others as well.


The finger is bent through the PIP joint (first joint actually in the finger) and typically in arthrogryposis, can't be straightened. Therapy can absolutely be helpful and is always recommended as the first step.  But surgery might be helpful for function (especially if the bent finger is getting in the way of grasp).  Additionally, it has been suggested that when the finger is left untreated, arthritis can develop and joint deformity can become an issue.

The thumb is often a bigger functional issue due to its flexed position.  It makes large object grasp difficult and can also get in the way.  The function and position of the thumb is always important BUT becomes even more important in kids with severe finger limitations.  Those kids depend on a good thumb for most of their hand function.  I have previously posted on the thumb in arthrogryposis here:
Post 1
Post 2 and others as well.

This child is about 5 years of age.  The pictures do not present his challenges well (I am trying to take more video but...).  His middle finger is bent 90 degrees and stuck.  His thumb is very tight at the MCP joint and his a complex skin contracture as well.



Distal arthrogryposis with tight thumb and middle finger



Distal arthrogryposis.  First web space (thumb space) is tight!

Distal arthrogryposis with tight middle finger (can't be straightened) and tight thumb.

Given the functional limits caused by the distal arthrogryposis and primarily the thumb and middle finger, the family elected to proceed with surgery.  Therapy had provided some, but not enough improvement.  The thumb was flexed and could not be straightened.  The space between the thumb and pointer finger was very tight.  The middle finger was bent and could not be straightened.  

I have posted on different techniques which overlap with treatment here.  I recently posted on our treatment of camptodactylyCamptodactyly Post- and I treated this patient in a similar way.  I have also previously posted on the thumb.  However, in this case, I used a somewhat different flap to resurface and deepen the first web space.   This is a modification of the traditional Buck Gramcko flap for first web space reconstruction.  Abdel- Ghani has written about this and shared his positive results:



I also stiffened (a procedure called a chondrodesis) the thumb MCP joint to help keep the thumb in a better position.  I expect this child will do very well.

Distal arthrogryposis treated thumb and middle finger reconstruction

Distal arthrogryposis treated thumb and middle finger reconstruction


Distal arthrogryposis treated thumb and middle finger reconstruction

Charles A. Goldfarb, MD
My Bio at Washington University
email: congenitalhand@wudosis.wustl.edu

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Sunday, May 12, 2019

Short arm and hand deficiency- phocomelia or longitudinal deficiency?


Phocomelia is Greek for 'seal limb', a descriptive term for a short, deficient arm (or leg).  I have previously posted on this topic HERE.   For many years, patients with a really short arm were diagnosed with phocomelia as it became a 'wastebasket' term for such patients.  However, the term should be used in patients with an intercalary deficiency, that is, a deficiency primarily of one segment of the extremity (and NOT, for a generally short limb).  For example, a phocomelia could be a patient with a near normal humerus bone and a near normal hand without a forearm.  Or a near normal forearm and hand without a humerus.  Such patients are extremely rare today but the term and appearance became common nearly 60 years ago related to use of thalidomide by pregnant women.  

So, back to our focus- the really short arm and deficient hand.  Most commonly, this is NOT phocomelia but more likely is severe radial or ulnar deficiency.  We first identified and reported this connection in the medical literature in 2005, summarized HERE.  

Recently, I met a new adult patient with an undiagnosed left arm deficiency.  We had a long discussion about any diagnosis as well as her concerns that this may relate to her father's exposure to Agent Orange in Vietnam.  There is no evidence that I can find relating to any parental exposure.  But, her clinical appearance and the x-rays suggest a diagnosis of ulnar longitudinal deficiency.  I have written a good deal about ulnar longitudinal deficiency previously, found HERE.  There is also good additional information to be found on OrphanetOMIM including ulnar mammary syndrome (UMS), and others.

To me, making the correct diagnosis is important for many reasons.  One reason is simple- peace of mind.   Giving a name and diagnosis to a condition helps decrease anxiety around a condition.  It also provides information to the family.  Also, the correct diagnosis gives genetic information which may be important for future generations.  Finally, the right diagnosis helps identify other associated abnormalities of the skeleton or the key organs (like heart, lungs, etc).   In ulnar longitudinal deficiency, the main associated anomaly is trouble at the lateral ankle (distal fibula) and, very rarely, a severe deficiency of the hip.  There are not other regular conditions of the bones or key organs.  This is different than other similar conditions, like radial longitudinal deficiency, with known heart, spine, kidney, and other conditions.

This patient had an isolated condition with a very short left upper extremity without elbow motion.  Shoulder motion was also limited.  Also, there was a thumb and three fingers with some limited motion of the fingers as well.  

Appearance of ulnar deficiency.  Note the very short arm, lack of elbow motion, and missing finger.

Appearance of ulnar deficiency.  Note the very short arm, lack of elbow motion, and missing finger.
X-rays confirm the diagnosis of Type 5 ulnar longitudinal deficiency (also know as ulnar clubhand, ulnar hypoplasia, and ulnar amelia).



Type 5, severe, ulnar longitudinal deficiency.  Not the abnormal shoulder, lack of elbow, and missing finger.


Type 5, severe, ulnar longitudinal deficiency.  Not the abnormal shoulder, lack of elbow, and missing finger.

Charles A. Goldfarb, MD
My Bio at Washington University
email: congenitalhand@wudosis.wustl.edu

Please CLICK HERE to support our research.  
Designate my name.  Thank you!