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

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

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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

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Sunday, April 7, 2019

Symbrachydactyly- The typical form defined

I have posted a few times on symbrachydactyly and those posts can be found HERE.  In addition, there are several reasonable summaries at other sites including this free ARTICLE from a friend and colleague, Michelle James.  Many hospital sites also offer a brief summary of the diagnosis.  In my practice, it is not common that patients come to the office with a diagnosis of symbrachydactyly.  In fact, that almost never happens.  Most patients are labeled as having amniotic band or constriction band syndrome incorrectly.

While there are a few classifications of symbrachydactyly, this one, to me, summarizes the different forms best:
  1. short finger
  2. cleft type (thumb and small finger present)
  3. peromelic (nubbins)
  4. monodactyly (only the thumb present)
  5. wrist bones present (but nothing more distal)
  6. wrist bones absent (ie, arm ends at the end of the forearm)
  7. transforearm (amputation at mid forearm level)

For this discussion, I would like to focus on the short finger type of symbrachydactyly (Type 1).  That is, patients with a thumb and four fingers but with shorter digits than expected (brachydactyly meaning short finger)  The size of the digits can vary dramatically and can include a failure of some of the bones to form or shorter bones than expected.  These patients also have webbing between the fingers (thus the name symbrachydactyly rather than just brachydactyly).

These two images help to show a relatively mild form of symbrachydactyly with short digits and a surgically corrected webbing between the fingers.

Symbrachydactyly after deepening of the spaces between the fingers.

Symbrachydactyly x-rays showing short middle phalanges

These x-rays demonstrate short middle phalanges which account for the overall short digits.  See the red arrow on the middle phalanx.  The metacarpals (in the hand) are normal, the proximal phalanges are normal, and the distal phalanges are normal or near normal.  But the middle phalanges are short, as expected, in this mild form of symbrachydactyly- thus making the overall finger length less than expected.  While the digits are short, function is typically excellent and surgery to address the length is not recommended.  The only surgery for patients with this type of symbrachydactyly is what has been provided for this patient- a correct of the syndactyly or webbing.

Charles A. Goldfarb, MD
My Bio at Washington University

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Saturday, March 30, 2019

Sprengel Deformity Outcome

Sprengel deformity is the presence of a high- riding shoulder blade (scapula).  I have previously blogged about it HERE (although it has been awhile).  Sprengel deformity is uncommon although the exact incidence is unclear.  It can be associated with a number of conditions including Klippel Feil (cervical spine vertebrae fusions), scoliosis, and other less common conditions (although all of these are very rare).  We believe it occurs during early development.  All of us start with the shoulder blades resting high in the neck and then, during fetal development, the shoulder blades migrate/ travel down to their final position in the upper back.  There may be abnormal tissue or even bony connection between the shoulder blade and the spine (it is unclear if this is cause or effect). 

Patients with a Sprengel deformity present with a bulge in the posterior neck- the shoulder blade.  They typically have limited shoulder motion including the ability to bring the arm from their side and in front of them.  Specifically, both motions may be limited to prevent the hand and arm from reaching high above the patient.  There is rarely pain.  The motion limitation is determined by the severity of the Sprengel deformity. 

Sprengel Deformity on the patient's right side.  
Sprengel Deformity on the patient's right side. 

While therapy can be utilized to work on motion in Sprengel deformity, most patients with motion limitations and the notable neck bulge are treated with surgery.  The goal of surgery is to bring the shoulder blade down from the neck, back into its position in the upper back.  Because the shoulder blade is always smaller than the ‘normal’ one, the sides are never exactly symmetrical.  The surgery we utilize is the Modified Woodward procedure although there are several similar surgeries which can be effective.  We prefer a younger age for surgery but will typically treat patients aged 3-8 years or so.  The reason we prefer operating on younger children is because we feel that motion will improve more compared to treatment in older kids.

Finally, while the goal of surgery is to improve motion, a secondary benefit (an important one) is the improvement in appearance.  Sprengel deformity does cause a real ‘bulge’ in the neck which is quite noticeable.  Surgery definitely improves this although, as noted above, the shoulder blades typically appear asymmetrical due to the fact the affected one is smaller than the ‘normal’ one (although this is only visible without a shirt).  One important consideration in surgery is for the surgeon to avoid the temptation to bring the shoulder blades ‘level’.  This can increase the risk of a nerve stretch injury.

The patient below is after surgery for Sprengel deformity and the size difference in her shoulder blades is clear.   However, her motion is much improved, as is the appearance of her neck.  Unfortunately, the improvement in her neck bulge is hidden by her hair.

Patient with Sprengel Deformity on her right, after surgery

Patient with Sprengel Deformity on her right, after surgery

Charles A. Goldfarb, MD
My Bio at Washington University

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Sunday, March 10, 2019

Research Matters

The Paul R. Manske Award for Best Congenital Manuscript is named for my late partner who had such an important impact on the field.  This Award recognizes the most impactful paper related to kids born with hand or arm differences, anomalies, etc.  I am happy to say that our paper was selected for this award by the Pediatric Hand Study Group at the recent annual meeting in Denver:

Bae DS, Canizares MS, Miller PE, Waters PM, Goldfarb CA.  Functional Impact of Congenital Hand Differences: Early Results from the Congenital Upper Limb Differences (CoULD) Registry.  J Hand Surgery, 2018; 43(4):321-330

The paper, Abstract Here, shared the findings from our CoULD Registry regarding function in kids with these birth differences.  Simply put, we found that that these children did have lower upper extremity function scores but had better peer relationships and positive emotional states compared to the normal population.  Really quite amazing findings which are similar to at least one previous report by Ann Nachemson in 2011 which showed positive psychological well being in a smaller but similar group.  I previously blogged about this paper HERE.

This paper is the result of a great deal of hard work from the CoULD Group.  The idea is that we follow children with birth differences or anomalies over time to better understand the effect of time and treatment.  We follow the results of surgery, type of surgery, challenges with surgery, etc but also kids treated with therapy or simple observation.  This group was founded by Don Bae and I to address one of the great challenges in understanding of kids with birth differences- the lack of studies with a sufficient numbers of kids.  So, we began enrolling kids in 2014 and we have added 5 additional sites with a number of other sites set to join.  So far, we have enrolled more than 2,400 children with the 5 most common diagnoses being radial polydactyly, ulnar polydactyly, syndactyly, radioulnar synostosis, and symbrachydactyly.  Most of the 2,400 were malformations of the upper limb or hand plate.  There are now a number of research projects in the works and we are excited to see how these studies will change our understanding of birth anomalies and their effect on children!

Charles A. Goldfarb, MD
My Bio at Washington University

Saturday, February 23, 2019

Finger Deformity- What happens late?

Clinodactyly, bent finger, may present at birth, in childhood, or with the rapid growth of adolescence.  If the bent finger is mild, it will not limit function and often may be treated with stretching or simply observed.  However, a more notable bent position becomes a functional issue with large object grasp and with simple things like typing.  Treatment begins with therapy including active and passive motion and splinting to decrease the deformity.  And therapy is often very helpful.  However, in some patients, therapy does not provide the desired correction.  Pain in childhood is rare.  However, with more severe camptodactyly, pain can develop over time and, occasionally, arthritis can develop as well.

If the finger position is causing problems, again, this would almost always be functional limitations but could include pain in the older child or adult, surgical intervention is considered.  However, the issue with surgery is that it doesn't always provide the improvement that we desire.  And, it can carry the risk of stiffness.  This bears more discussion.  With camptodactyly, patients can make a full fist- they just cannot completely straighten the finger. Flexion/ making a fist is a crucial function.  If surgery stiffens the finger and full flexion is lost, function can be worse.  While not the point of this post, to minimize the risk (we can't eliminate it) of a loss of flexion, we limit the immobilization after surgery, limit the use of pins, and start early therapy. 

So, with younger patients with camptodactyly, we attempt to remove the block to extension.  And we work hard to maintain full motion.  I have blogged about this previously HERE.  However, an older patient with longstanding camptodactyly may need a different approach.   If the joint degenerates and if arthritis develops, a surgical fusion of the joint in the best functional position makes sense.  This limits motion but puts the finger in the best possible position and removes pain.  And, this raises another controversy- the role of camptodactyly in the development of joint arthritis.  Some believe that the flexed joint position and limited motion increases the risk of joint arthritis.  They also, therefore, recommend early surgery to decrease this risk.  This is not necessarily my approach as I feel this is a decision for the family to make with my role in providing additional information.

Here is a patient without previous treatment and with long standing camptodactyly.  The markedly flexed position of the finger was limiting his function and there was pain.  To address both issues, we fused his joint (no further motion at the middle joint but normal motion at other joints) in a better position of function.  The surgery was successful in removing pain and helping function.  Again, this is a rare option for camptodactyly.

Limited finger extension with camptodactyly.  Long standing problem which has interfered with function.

Long standing camptodactyly with major joint changes and joint arthritis.  This is RARE.

Finger fusion in an adult for treatment of long standing camptodactyly with pain.  Note the improved position of the finger compared to prior to surgery.

Late, painful camptodactyly is rare, thankfully.  This rare case does illustrate important points including the possible development of an arthritis joint and the need for surgery.

We recently wrote a review article for the Journal of Hand Surgery on camptodactyly, focusing on treatment options in kids.  See the highlights in Recent Article

Charles A. Goldfarb, MD
My Bio at Washington University

Sunday, February 3, 2019

Madelungs Deformity Surgical Technique

I have posted a few times on Madelung Deformity, as may be seen HERE.  While there have been a number of surgical techniques recommended over the years, I believe that the dome osteotomy of the distal radius is the best option.  That procedure was described well in this important MANUSCRIPT.

Below is a brief surgical technique video on the dome osteotomy for Madelung Deformity.   While this is not a truly graphic video (no notable blood loss), it does provide a look inside the forearm and shows how this procedure is performed with drills, wires, and chisels (osteotomes).  What I mean to say is that everyone may not want to watch this!

I use this surgery for Madelung Deformity when patients have pain in the central wrist or radial wrist (thumb size).  That is typically in younger patients (example, 12 year old female) and may be part of a surgery which includes excision of Vickers ligament and physiolysis.  However, in older patients with pain on the pinky side of the wrist (the ulnar side), this may not be the best option- instead, an ulnar shortening osteotomy might be the ideal surgery.

Thanks to Andrew Yee for his expertise in creating this video!

Charles A. Goldfarb, MD
My Bio at Washington University
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