Wednesday, July 16, 2014

Best Scientific Publication on Birth Anomalies of the Upper Extremity

I have been fortunate to learn from a number of wonderful hand surgeons over my career.  One of the most impactful was Paul Manske, a hand surgeon and, more specifically, a congenital hand surgeon.  He spent the majority of his career here at Washington University School of Medicine.  I am not alone in this sentiment of appreciation and 4 of us have established an an annual award recognizing the "best" or most impactful publication in the field of upper extremity congenital/ pediatric anomalies.  Ann Van Heest, Michelle James, Relton McCarroll and I review the literature in our field to determine the winner of the award each year.  

 In 2011, the winner was Ann Nachemson's group for "Children with surgically corrected hand deformities and upper limb deficiencies: self concept and psychological well- being.  JHS 2011; 36E: 795- 801.  This manuscript provides insight into how children with deficiencies of varying severity identify with their anomalies.  The more severe group had a self concept score similar to a group of healthy children.  Children with milder deformities were found to have lower (worse) scores than those children with more severe deformities.  Nachemson Study
 In 2012, the winner was PP Kotwal, et al for "Comparison of surgical treatment and nonoperative management for radial longitudinal deficiency.  JHS Eur 2012; 37(2) 161-9.  This study evaluated two groups of children treated for radial deficiency and found superior outcomes in those treated with centralization (or radialization).  This study is important as it was the first to scientifically demonstrate the positive effect of centralization. Kotwal Study

Finally, we recently notified the authors Clement and Porter that "Forearm Deformity in Patients with Hereditary Multiple Exostoses: Factors Associated with Range of Motion and Radial Head Dislocation" in the Journal of Bone and Joint Surgery was the 2013 winner.  In a large group of patients, this study showed that distal radius exostoses were most common.  Additionally it confirmed that a shortened ulna was related to decreased forearm motion and radial head dislocations.  It suggested, therefore, that surgery should be considered in such patients. Clement Study

Tuesday, July 8, 2014

Type 2 Radial Longitudinal Deficiency

Bayne and Klug wrote what is now a classic scientific article on radial longitudinal deficiency in 1987 Classic Article.  This article described 4 types of radial longitudinal deficiency:

Type 1- Short distal radius
Type 2- Radius in miniature (short proximal and distal)
Type 3- Absent distal radius
Type 4- Absent entire radius

More recently, we added a Type 5- which is a Type 4 deficiency + an absence of the proximal humerus- Type 5 article and a James, McCarroll and Manske added the Type 0 and N Modified Classification.

Perhaps the least common type of radial longitudinal deficiency is the Type 2- Radius in Miniature. Because it is uncommon, treatment is not clearcut.  Here is one example of such a case.

Type 2 Radial Longitudinal Deficiency.  Note the very short radius bone.

In this patient, we lengthened the radius in an attempt to better balance the wrist on the forearm bones. Unfortunately, we did not obtain as much length as we hoped but the length we did obtain stood the test of time over the next 12+ years.  The wrist is balanced and the pollicization is doing well.

2 years after lengthening surgery for Type 2 Radial Longitudinal Deficiency

4 years after lengthening surgery for Type 2 Radial Longitudinal Deficiency

12 years after lengthening surgery for Type 2 Radial Longitudinal Deficiency.

Here are clinical pictures of the patient at 12 years after surgery for Type 2 Radial Longitudinal Deficiency.  There are several interesting features. First, the ulna has a big bow which makes it look like the elbow does not straighten fully (it does). Second, the wrist has remained relatively balanced- we will continue to follow him and with growth there may be a need to lengthen the bone a second time.  This time, we would plan an external fixator lengthening- this option was not possible due to the young age at the time of the first surgery.  There is also a pollicization which has helped function.  
Type 2 Radial Longitudinal Deficiency. 12 years after surgery.  Note relatively balanced wrist and pollicization.

Type 2 Radial Longitudinal Deficiency.  Elbow straight (it doesn't look straight as the ulna bone is curved (bowed).

Charles A. Goldfarb, MD
My Bio at Washington University

Wednesday, July 2, 2014

Popular Press News Stories

I have attached a few links that I believe you might like to see.  These are stories relating to birth anomalies of the hand and upper extremities.  These stories were in the popular press.

World Cup Soccer  Interesting link which is also thought provoking.  Thanks to Terry Light.

Phantom Limb Pain  Link regarding birth anomalies and the brain.  Fascinating.

Robotic Prostheses  Technology advancement for prosthetics

More on Prosthetics  Summary of our 3D prosthetic work at Washington University.

Happy Reading.

Charles A. Goldfarb, MD
My Bio at Washington University

Sunday, June 29, 2014

Cerebral Palsy, Thumb Deformity

Cerebral palsy (CP) is defined as a permanent limitation in physical function which does not change or get worse over time.  Most commonly, it is a disorder with spastic muscles and limitations in motion but kids can present in a variety of different ways.  I have not previously blogged on this topic and will start with the case as an example as it is an good example of the difficulty with cerebral palsy and the potential benefit of surgery in certain situations.  I will break this down further in a series of posts on cerebral palsy in general as well as other posts on specific joint issues.  More to come!

Today, I would like to share a case of an older adolescent with cerebral palsy involving all four limbs. Previously, due to a severe wrist flexion position, he had been treated with a wrist fusion.  That surgery had helped him overall but left his thumb in difficult position.    He has a very weak pinch with the thumb and also difficulty trying to hold bigger objects due to the position of the thumb.  Muscle overfiring and tightness, as commonly seen in cerebral palsy, combine to make this thumb position difficult.
Cerebral palsy thumb with marked deformity.

Attempted pinch in cerebral palsy thumb. 

Holding a spoon with cerebral palsy thumb deformity.

The thumb abnormal positioning has been classified by Dr House from Minnesota.  He practiced at Gillette Children's Hospital and was a great educator on cerebral palsy.  The classic article from 1981 House article described 4 types of possible thumb deformity, the explanation behind these deformities of the thumb, and treatment options.  This thumb is a type 3 cerebral palsy thumb most noted by the severe adduction contracture of the thumb metacarpal (thumb positioned next to index finger) and the notable hyperextension of the MCP joint.  Treatment considerations are somewhat different in this patient based on age but the reasoning behind the positioning of the thumb is well explained from this article on cerebral palsy thumb from more than 30 years ago.

Due to the challenges of the thumb position, we elected to proceed with a stabilization of the CMC joint- the carpometacarpal joint at the base of the thumb.  We were able to align the joint after muscle lengthenings and joint release.  We held this position with temporary pins.  Next, we fused (or made stiff) the MCP joint- the joint where the thumb meets the hand.  The pins are also temporary (6 weeks) but the joint will be stiff forever although in a very functional position.  
Improved thumb position in cerebral palsy after surgery.

Improved thumb position in cerebral palsy after surgery.

Improved thumb position in cerebral palsy after surgery.
Charles A. Goldfarb, MD
My Bio at Washington University

Friday, June 20, 2014

Diagnosing Distal Arthrogryposis

Making the Diagnosis and Maximizing Function

Arthrogryposis is a challenging disorder although, thankfully, our understanding about it has grown over the last 10 years.  Previous Blog Posts and Great site While there are many thousands of subtypes of arthrogryposis (and several names with some differences, including the commonly used amyoplasia), basic treatment options are increasingly accepted.  We now have “good” surgeries to help children maximize arm function once the diagnosis of arthrogryposis has been made.  As I have previously written, these options include humerus osteotomy to rotate the arm into a better position- humerus osteotomy, elbow posterior release to allow elbow flexion (bend), wrist osteotomy to allow the wrist to rest in a straighter position (out of flexion)- Wrist post, and thumb procedures to deepen the thumb- index web space and to position the thumb in space to allow better grasp and pinch- hand post. 

Arthrogryposis of the hand is a challenge in two ways.  First, it may be isolated and not associated with any other problems in the arms or elbow or forearm.  This is typically a distal arthrogryposis.  These kids often have normal shoulder, elbow, forearm, and wrist motion.  They may have normal or close to normal thumb function (some however do not).  But, the fingers do not straighten fully.  There may be foot problems as well, such as clubfoot.  The diagnosis of distal arthrogryposis in these children may be delayed as, overall, these children function well.  Sometimes the diagnosis is confusing as the separation of camptodactyly involving more than one finger and distal arthrogryposis is not clear.  This is important for informational purposes for the family but is also a limitation of the classifications schemes we use.   Camptodactyly post

The other challenge for children with distal arthrogryposis is treatment.  Therapy is absolutely the first treatment and can provide improved motion for the fingers.  It may be the only treatment needed.  In my experience, the earlier it is started, the better the improvement.  However, finger stiffness (mainly a lack of full straightening but also a lack of full flexion- making a fist) is a problem that therapy does not usually solve and may not help much at all.  Every child with distal arthrogryposis is different.  And, as opposed to problems in the arms, there are no recognized and widely accepted surgeries that have been shown to reliably improve motion.  There are surgeries we can do for camptodactyly (like a situation with only one finger involved) but even the treatment for one finger is tough.

This child did not have a diagnosis when she first came to see us.  There was a thought that it was camptodactyly affecting many fingers.  But we believe she has distal arthrogryposis.  There are several good link with additional information on distal arthrogryposis including omim link and Genetics Link .  The bottom line is that this child may have distal arthrogryposis type 1 as her father had a similar presentation with limited motion in the long, ring, and small fingers on both sides.   While this patient is old for an initial visit, therapy is absolutely the first intervention including stretching and splinting.

Type 1 distal arthrogryposis is often autosomal dominant (50% chance of passing it on) and often the child will have clubfoot as well (not in this pictured patient).  Two genes have been identified that may explain this condition: TPM2 and MYBPC1.  

Distal arthrogryposis showing a lack of full straightening of the fingers.

Distal arthrogryposis as the patient tries to straighten the fingers.

Distal arthrogryposis, palm view.

Charles A. Goldfarb, MD
My Bio at Washington University

Tuesday, June 17, 2014

Symbrachydactyly of the Hand: Diagnosis and Presentation

Confirmation of a diagnosis of symbrachydactyly can be challenging.  Most patients who present to my office with symbrachydactyly come in with a different diagnosis- typically amniotic constriction band (also known as constriction band syndrome, amniotic band syndrome, etc)- Amniotic Constriction Band Blog 1Blog 2.   In fact, most patients with any upper extremity diagnosis present with a diagnosis of amniotic constriction band

Most, however, do not have the diagnosis of amniotic constriction band as it has several classic features including the involvement of multiple limbs (i.e., both hands, feet, etc).  These patients may have amputations of the fingers (typically longer digits and the resulting nubbins do not have nails), syndactyly (between scarred, amputated digits) with classic holes (fenestrations) between the fingers, and constriction bands (indentations) in the fingers or toes and forearms and legs. 

Symbrachydactyly in the hand presents in one of 4 ways, as previously noted in several blog posts, symbrachydactyly link including: monodactyly (thumb only), short finger type, peromelia (just nubbins), and cleft type (some thumb and pinky with nubbins between).  Classically, we consider the diagnosis of symbrachydactyly when there are nubbins with fingernails.  This finding reflects the mechanism of this developmental problem- a lack of blood flow to the developing mesoderm (which forms bones and deeper tissues) but a more normal development of the ectoderm (forming nails and fingertips).  This patient shows a classic presentation.

Symbrachydactyly of the hand.  Note the nubbins and the puckered skin. 

Symbrachydactyly of the hand.

Symbrachydactyly in the forearm may be difficult to distinguish from a transverse arrest.  Eventually genetic assessment and a better understanding of limb formation will help us separate the two.  Currently, I use the term transverse arrest for kids with a classic amputation in the forearm.  I use the term symbrachydactyly to describe those kids with a forearm deficiency with nubbins (with or without nails) or even with an invagination of the amputation site.  Again, increasing knowledge will eventually help us separate the two. 

The child shown above was given a diagnosis of symbrachydactyly in our office years ago.  He has functioned well, does not use a prosthetic, and finds his digits helpful to activities (such as tying his shoes).  His only issue is a common complaint: keeping the nubbins and skin depressions clean.  Occasionally, he will get dirt or a foreign body inside and it can become red and inflamed.  Even less commonly, antibiotics are needed.  This family was content to keep the nubbins clean and they were not interested in the surgical option of removing (“smoothing”) the problem areas with surgery.  Obviously, the most functional digits would never be removed surgically but ones that do not provide functional benefit and cause problems can be removed.  In fact, with additional growth, there will be surgical options to stabilize and lengthen these most helpful digits in the symbrachydactyly hand.

Charles A. Goldfarb, MD
My Bio at Washington University

Monday, June 2, 2014

Hand Camp 2013

So, I am a little late with this post.  I originally wrote this summary about 9 months ago.  Somehow I neglected to post it.

The 6th Annual Shriners St Louis Hand Camp was a clear success.  As always, the site was Camp Lakewood in Pitosi, Missouri- a YMCA camp.  This year, there were 15 families on a perfect weather weekend.  The Occupational Therapy staff, among many others, did a great job organizing this wonderful event.  Special thanks to OTs Valerie and Stacy who work to make every Hand Camp great.

Brief background on Hand Camp.  I believe the idea of Hand Camp (or at least our adopted version of it) is from Dallas Texas and the Texas Scottish Rite Hospital.  One of the therapists there, Amy Lake, helps to run the show and we have learned much from her and the team.  The idea is a weekend of learning and exploring for kids with upper extremity differences and their families.  The weekend helps inform the kids that there are many others like them out there and allows them to learn from one another.  Likewise, the families can also learn and grow and share.  Kids with a variety of differences are included with such differences as symbrachydactyly,  radial deficiency, amniotic constriction band, among others.  We have funding for a limited number of spots for the kids and their families (including siblings) with much donated time and energy from the Shriners team.

I was joined by Sam (one of our hand fellows), Claire (one of our residents), and Robert (a visiting medical student) for the day.  We participated in Group activities in the AM including horseback riding, rock climbing, and archery.  Absolutely amazing to watch kids adjust to a challenge and conquer it.  Kids figuring out a way to climb the wall and shoot the bow and arrow are probably the most exciting to watch.  Some kids jump right in and others take time to work up to it but, either way, fun to witness.  Aside from the personal achievement, there is also a group excitement when a child with a limb difference or even a sibling accomplishes a goal at Hand Camp.

My favorite part of these Hand Camp weekends, without a doubt, is the group sessions.  Today we were a part of the parent introductory session.  After introductions, the floor was opened to discussion about challenges, successes, new schools, and other topics, as well as tricks and tips.  Some tears, many smiles, and a general sense of pride throughout the room.  For me, these days and these sessions are wonderful as I hear (and I can never hear to often) of the challenges that kids face on a daily basis.  For some, an outward personality helps to conquer all while other kids keep quiet and we wonder what they think.  I also hear of parent concerns and parent anxiety for their children.  I can only imagine but I take these lessons and learn and then call on these discussions when I am back in the clinic environment.

All in all, another wonderful Hand Camp.  Great for kids, families, and staff.
The Whole Hand Camp Group

Hand Camp Campers!

Hand Camp Junior Counselors

Daunting climbing wall.  Especially for kids with limited use of one or both hands.

Climbing wall, no problem.

After conquering the climbing wall, the child is escorted over a narrowing walk to a zip line.

One of our many adorable Hand Campers after centralization and pollicizations on both sides.