Saturday, December 27, 2014

A Dictionary for Birth Anomalies of the Upper Extremity

As much as I try to write for the non- physician, there are still medical terms throughout my blog posts. So, in an effort to simplify the terms and explain some basic concepts in the field of congenital hand, I will provide a dictionary of sorts.  I hope this helps simplify the terms and ideas.

Polydactyly means extra digit.  Polydactyly can be preaxial or radial sided (thumb sided) or postaxial (or ulnar sided, pinky sided) polydactyly.  The most common type is postaxial polydactyly.  There are a few rare types including central polydactyly (middle of hand) and mirror hand (3 or 4 extra digits on the thumb side).

Syndactyly means joined digits.  Most commonly there is only skin connecting the 2 fingers. However, sometimes bone can connect the fingers.  Rarely, more than 2 digits are involved in syndactyly.  The long and ring fingers are most commonly joined.

Longitudinal Deficiency means limited development on one side of the arm or forearm.  The most common type of longitudinal deficiency is radial sided (thumb sided) which may affect the radius bone, the muscles of the forearm and the thumb.  Less common is ulnar longitudinal deficiency which affects the pinky side of the forearm and may affect finger development as well.

Radial and ulnar longitudinal deficiency can affect the hand alone or the hand and forearm.  Cleft hand has been also called central deficiency as it typically affects the middle digits of the hand (as well as the thumb web space).  Cleft hand does not affect the forearm.

Amniotic constriction band has been called more than 30 different terms in the medical literature. Other common terms for this condition (which causes bands, syndactyly, and amputations) in amniotic band syndrome or constriction band syndrome. (although it is not a syndrome)  This category is by far the most common diagnosis given by pediatricians but is often inaccurate.

Symbrachydactyly is a tough term because it literally means short, webbed fingers but it is a term used for a broader range of conditions.  This includes children with absent fingers with nubbins and some kids with an absent hand or forearm.  This diagnosis can be difficult to distinguish from transverse deficiency or congenital amputation.

While I have previously written about causes for less than five fingers, it may be worth repeating. There are five common causes for less than five fingers: radial deficiency, ulnar deficiency, cleft hand, amniotic constriction band, and symbrachydactyly.

Camptodactyly means bent finger, specifically a finger in which the first joint (the PIP joint) does not straighten fully.  It can be present at birth, it can be associated with arthrogryposis, or it can present in the early teenage years.  Clinodactyly is most commonly seen in the small finger with deviation of the finger towards the ring finger.  The other fingers and the thumb can also be affected.

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

Sunday, December 14, 2014

Extra Digits- What Happens After Treatment

Postaxial polydactyly is the medical term for an extra digit on the pinky side of the hand.  It is far and away the most common location for an extra digit.  It is much more commonly seen in African Americans compared to whites (the reverse is true with radial polydactyly- thumb side).  There is a definite inheritance pattern (typically autosomal dominant).  I have previously written about this on several occasions- read here. 

I find it interesting that most children with an extra finger next to the pinky are not treated by a hand surgeon.  The extra digits are routinely "tied- off" in the newborn nursery.  Rarely these children may be treated in the pediatrician's office or at an orthopedic surgeon's office.  And most of these kids do really well, although small signs of the extra digit remain years later.  However, this treatment is best for the small extra digit and not the fully formed digit which requires a more formal surgery.

There is a huge variety in how the extra finger may appear- from quite small to normally sized.  The position and development of the extra digit is also variable as noted in this excellent article in the medical literature.
This child has a fully formed extra digit next to his pinky.

Smaller (and a bit swollen) extra finger.

Another type of extra digit, this time coming off the small finger closer to the nail.

So, no matter whether the extra digits is "tied- off" in the newborn nursery, clipped in the clinic or treated with formal surgery, most patients do great. 
 
Subtle hint of where the extra digit was removed.




However problems do develop.

1) One potential problem with an extra digit procedure is the need for a later surgery, a formal surgery to address the scar or pain.  In a recent article on using clips in the clinic (see here), 7% of kids needed a scar revision surgery.  Here is an example of a child treated in the nursery with an uncomfortable residual "nubbin."
Painful, small nubbin after treatment of polydactyly.
2) When the extra finger is clipped or tied, the blood supply to the digit is cut off and the extra digit enlarges, turns black and eventually falls off.  However, the timing of this process is unclear and the extra digit can stay on for week.  There is also a risk of infection.  These factors affect family satisfaction with this type of procedure and it certainly makes education of the family very important.


Necrotic extra digit after being tied off.

Another necrotic small finger polydactyly after being tied off.
3) Even formal surgery is not perfect for polydactyly.  The goal with formal surgery is to remove the finger and address the nerves, arteries, and tendons to allow a satisfactory appearance and function. And it is usually successful.  There are few problems reported.  Here is one recent example of a patient I treated with a revision excision.  His first surgery had been elsewhere and the surgeon had left behind some bone and the nerve stump had become painful as well.
After incomplete extra finger excision.  The patient needed a revision surgery.


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



Friday, December 12, 2014

Short Fingers- Treatment Choices

Symbrachydactyly means short and webbed fingers but the term really includes a wide range of presentations.  I have previously posted on symbrachydactyly a number of times and this Post summarizes the 7 different types of hand appearance.  I have also written that I prefer certain techniques to lengthen the fingers such as bone lengthening or web space deepening- read Here and Here .  However, I do believe that using toes to lengthen fingers might make sense in certain very specific situations.  Consider this child:

Symbrachydactyly with excellent thumb.

Symbrachydactyly with excellent thumb.

Radiographs of same child with symbrachydactyly showing the great thumb and limited other digits.

This patient has symbrachydactyly although it shares some similarities to hypodactyly, as defined by Ezaki, et al article.  This patient has a great thumb but limited finger development.  The hand and metacarpal bones are well developed but there simply is very little development of the fingers (phalanges).  And, importantly for this discussion, there are excellent soft tissue pouches that can be used for reconstruction.

In order to provide a strong pinch, we elected to reconstruct the index finger which was the most developed finger.  It had a small remnant of the proximal phalanx and a small fingernail (with some of the distal phalanx beneath it.  To me, this seems like the ideal candidate for a nonvascularized toe to hand transfer.  While there can be problems with the feet, typically patients do well.  And the index finger has immediate length and stability and, we all hope, will grow (as long as the growth plates of the transferred bone remain open).

Symbrachydactyly after free toe phalanx transfer.

Palmar view after surgery for free toe transfer in symbrachydactyly.

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

Sunday, November 23, 2014

Inspiration

I am fortunate.  Each day I am inspired by the kids (and families) that I am able to treat. These children are born with differences and, therefore, they do not know any other way.  But they must learn to exist in the everyday world with functional and social challenges.  And succeed they do.  Each child has different tricks and tips, coping mechanisms and strategies- techniques built up over time and with family support.   That is why, each day, I am inspired.  And if I have the opportunity to make things a little easier for a child (with surgery or therapy or...), I am happy to help.  And, as suggested below, share some of the "light."

Edith Wharton said " There are two ways of spreading light: to be the candle or the mirror that reflects it."

What follows are a few spectacular examples of kids with birth differences succeeding in ways that amaze.

This first video is Adrian Anantawan, a violinist that I was lucky enough to see in person.

video


And another video of Adrian Anantawan from CNN.

video


Here is a one- handed, high level college basketball player.  Check it OUT.


Here is a wonderful example of basketball skills despite radial deficiency (thanks to Scott Kozin).


video


Lastly, here is an amazing example of the power of a positive outlook.  Brian Ndungu.







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




Sunday, November 16, 2014

Great Toe Polydactyly (extra toes)

It might seem odd that I am writing about extra toes.  Typically, hand surgeons don't take care of the foot but, in many situations, the hand surgeon is the perfect person to help take care of certain foot problems including extra toes, toe syndactyly (toes joined together), and even things like cleft foot. The reason I feel that the hand surgeon can help with certain foot problems is pretty clear- the foot issues are similar to the hand problems and the reconstruction techniques are very similar.  This not to say that there are plenty of great pediatric orthopedic surgeons who can care for toe and foot issues like these, because there certainly are.  

I have previously blogged about extra toes- find that here.   I hope to also post about toes on the outside of the foot- there are a bit easier to address and less critical for balance and walking.

It is key that the big toe be as sound as possible with reconstruction.  We want to create the right sized digit (i.e., one that won't cause problems wearing shoes) that has good motion and is stable.   To me, this is very similar to reconstructing the extra thumb as the goals are similar and the thumb and the great toe are critically important to hand and foot function.  The timing is debatable.  Some surgeons chose to operate before the child really starts walking as it makes the recovery easier while other wait longer as the toes get larger (and operate at 18-24 months).  I prefer to operate before walking but there are a number of factors to consider and discuss with each family.

Surgically, the reconstruction involves the following:
1) The skin.  We need to create a great toe that is not tensioned by the skin immediately or in the future (from scarring).
2) Removing the extra toes.  Ideally the smaller toe or the toe with greater challenges from a bony or ligament standpoint.  Sometimes, as in this case, the toes are relatively equal and this decision is not quite as straightforward but typically we remove the inner toe.
3) Stabilize the remaining toe to create good ligaments
4) Make sure the remaining toe is as straight as possible and is well set up for growth in the future.  There is always a chance that there will need to be a surgery later but hopefully it can be avoided if we get good balance with the first surgery.
5) Address the toenail.  This can be quite challenging with conjoined nails but the goal is a well balanced toe with good nail support.

I typically cast for about 5 weeks and often use a pin to stabilize the healing toe.  That pin is removed at the time of cast removal.  Here is a case example.  The x-rays are particularly interesting as there are delta phalanges on both sides- that is the bones are not the typical rectangular shape but are curved which can indicate an abnormal growth plate.  This may be corrected at the initial surgery.

Extra great toes with conjoined nails (synonychia is the technical term).  Note that there is some deviation of the toes.

Weight bearing with even more deviation noted in the extra great toes.

X- rays of the extra great toes.  Note that the feet are different.  
3 months after surgery.  The child is walking well and the family is very pleased.  
Great toes after reconstruction.  Excellent alignment has been achieved.  The nails are imperfect.
Great toe after reconstruction.  Right.






Great toe after reconstruction. Left.

Tuesday, November 11, 2014

Arthrogryposis: Arm position and elbow flexion

Kids with arthrogryposis are smart and are able to figure out how to accomplish many of life's tasks despite their functional limitations.  We, as surgeons, can sometimes help children with arthrogryposis by releasing and/ or repositioning tight joints.  We cannot make the arms or hands normal but little changes can make for big improvements.

It is always amazing for me to watch kids with arthrogryposis figure out the best way to accomplish a task.  Furthermore, different kids almost always figure out the same way to do these maneuvers. These tricks are not taught but are highly effective ways to get the job done.  Below is one example. Watch this child with arthrogryposis:
1) use his back to swing his arm into flexion and prop it onto the table
2) then use the table to further flex the elbow 
3) Finally he bends his neck forward to allow his hand to reach his mouth

And he makes it look so easy! I thank his family for allowing me to post this video.


Many children have stiff elbows.  Surgery to release the stiff elbow and allow elbow flexion (even without a muscle to power the elbow flexion) can make a big functional difference in a child's life.   One of the most impactful scientific articles on arthrogryposis treatment was on this Topic.  Straight elbows are tough as you simply cannot get your hand to your mouth!


The other interesting thing about this child with arthrogryposis is the fact that his arm is internally rotated.  Look at his right arm especially- the hand is pointed backwards because the shoulder is rotated in.  While he can adjust to this position somewhat, it can make grabbing and functioning a bit harder.  See our previous Post on this topic.  If you look again at the video above, when he swings his arm up onto the table, the hand is pointing backwards and he has to shift it around so that he can use it on the table.
Arthrogryposis with internal rotation of the arm.

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





Sunday, November 2, 2014

Early Outcome for Pollicization (creation of a thumb)



Pollicization is the name of the surgery which entails the creation of a new thumb, a "Pollex" (Latin for thumb).  For those of us who regularly care for children born with anomalies of the upper extremity, this is perhaps our favorite because it dramatically helps both appearance and function.  I have previously blogged about pollicization several times as summarized in this Post.  There is some good information on the Internet about pollicization.  My friends at the Texas Scottish Rite Hospital have a wonderful set of videos on pollicization.  The following is a trailer from their work with some very good information:
One of the interesting questions that we face as surgeons is regarding the timing of this surgery.  We want it to be early enough so that the child learns to incorporate the thumb into daily activities as soon as possible.  There is some thought that the surgery should be done very early (1 year of age) so that the brain is reprogrammed to understand that the index finger is now the thumb.  It is my personal belief that the brain has an understanding of the index finger as the most radial (or thumb sided digit) and so pushing for earlier surgery is not necessary.  The child will learn to best incorporate the thumb and it will become consciously and subconsciously clear that the new thumb will help the child function.   

Others wonder whether waiting until an older age might be helpful.  As the hand doubles in size between birth and 2 years of age and then nearly doubles again at maturity, a larger hand will be easier to address surgically.  And a larger hand will be safer to address as the key anatomical structures are bigger.  All of this is true but with surgical experience, the "risks" of surgery in the younger child are very manageable.  An older child, it is argued, will also better participate with therapy.  This is also true but, thankfully, not a great deal of therapy is needed as the thumb usually works well for the child and time/ play activities are usually the keys to a successful functional outcome.

I personally take what I consider is the middle ground an like to perform the pollicization between 18-24 months of age.  I feel that it is the best balance between the benefit of an early surgery (incorporation of the new thumb into life) and a later surgery (larger size and the child may be easier to work with after surgery).  

Here are a few pictures of a child we treated recently.  

Hand with absent thumb before surgery

Palm view of hand with absent thumb before surgery


We performed surgery to create the thumb using the index finger- the pollicization procedure.
After pollicization surgery.  Note the index finger has been reconstructed into a thumb.

After pollicization surgery.

Here is the child only 6 weeks after surgery.  Note that the child is using the thumb but not quite "normally."  He tends to use the two fingers first with the thumb as an assist.  Dad has noticed that he is progressively using the thumb more and more.  It will be fun to watch him learn to incorporate the thumb into all activities- his use pattern will change during the next 3-6 months.  It is tough to video kids this young, maybe on his next visit I can obtain and then share.
Early after pollicization, using the thumb to help the next to finges.

Early after pollicization, using the thumb to help the next to fingers.
Another picture 6- weeks after pollicization.  He is using his left hand but differently from his normal right hand.  This will change over time.


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







Monday, October 27, 2014

Shark Tank

Proud to post about my wife and her business, Myself Belts.  Talia and her sister created a patented belt that allows kids and adults to fasten a belt with one hand!  The belt has been really helpful for many of my patients.

Check out her Website!

The exciting news is that Talia and Myself Belts will be on TV this Friday night.  On Shark Tank!







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





Wednesday, October 22, 2014

Small finger polydactyly, extra fingers

Extra fingers can be on the thumb side of the hand, the central part of the hand, or the small finger (pinky) side of the hand.  The location of the extra digit is important because it relates the risk of other conditions such as syndromes or other abnormalities.  Small finger polydactyly is the most common location and most patients have a very small extra digit, or nubbin.  However, others can have fully formed extra digits which can either be straight or 'crooked."  African Americans are most commonly affected with the extra small finger and there is a strong autosomal dominant hereditary pattern.  Rarely are there any other health problems in these patients.  Caucasians are more commonly affected with thumb sided polydactyly.  When Caucasians have small finger polydactyly, the physician needs to be aware of the syndromes that can be associated.  A genetic assessment may be recommended.

Wikipedia has a nice summary of polydactyly.  There are a number of syndromes which are considered in these patients including Greig cephalopolysyndactyly syndrome, Meckel syndrome, Ellis van Creveld syndrome, McKusick Kaufman syndrome, and Bardet Biedle syndrome.  

Ellis van Creveld syndrome is perhaps the most discussed of these associated syndromes and is quite uncommon.  As always, there is great information on the NIH Genetics Homepage.  It is also known as chondroectrodermal dysplasia.  Other important clinic findings aside from the polydactyly include: short stature, abnormal fingernails, and heart defects (in some patients).   We know a fair amount about the genetics. It is an autosomal recessive disorder meaning the affected child received the abnormal gene from each parent and mutation is in the EVC gene (or EVC2 gene).  It is more commonly seen in the Amish population in Pennsylvania and also in Western Australia.

Below are clinical pictures and a few x- rays demonstrating the appearance of the hand.
Ellis van Creveld syndrome with 6 digits on the left hand.  Slightly crooked ring and small fingers, the site of the polydactyly.

Palmar view of Ellis van Creveld syndrome with polydactyly.

X-ray of polydactyly in Ellis van Creveld syndrome.

The right hand in a patient with Ellis van Creveld syndrome with 6 digit polydactyly.  Note the deformity of the ring and small fingers and extra digit.

An x-ray of the right hand in a patient with Ellis van Creveld syndrome with 6 digit polydactyly.  Note the deformity of the ring and small fingers and extra digit.

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

Monday, October 13, 2014

Ulnar Deficiency and Syndactyly

Ulnar deficiency (or ulnar longitudinal deficiency) is much less common that radial deficiency, possibly only 1 case of ulnar deficiency per 10 of radial deficiency.  And it is much different in the problems that it may cause.  The forearm abnormality can include a deficient or absent ulna and flexor muscles BUT, it is much better tolerated than radial deficiency.  There is less deformity and more wrist stability.  And the shoulder can help compensate more easily for the deformity.

The hand abnormality in ulnar deficiency can include missing digits (so- called ectrodactyly) and syndactyly (abnormal joining of the fingers).  I have previously blogged about ulnar deficiency- multiple examples are seen on this page.  Also, I have written on multiple occasions about syndactyly here.

The following case demonstrates many important points in the understanding and treatment of ulnar deficiency and syndactyly.

Ulnar deficiency and syndactyly


Palmar view of ulnar deficiency and syndactyly

This child has a relatively normal forearm (slightly short ulna only) without deviation of the wrist.  He has great wrist motion along with good elbow motion and forearm rotation.   He has a great thumb, a full thumb web space, and  two really good fingers.  However, the fingers are joined together (syndactyly).  To further promote hand function with independence of the fingers, the family and I elected to separate the fingers.

What follows are clinical pictures of the planned skin incisions for syndactyly reconstruction and the separate digits.
Syndactyly flaps from top of hand

Syndactyly flaps from palm side.

The flaps are elevated and sutured into place.  We use absorbable sutures so nothing has to be removed and place a bulky dressing for 3 weeks.
Syndactyly reconstruction from top of hand.

Syndactyly reconstruction from palm view.

We performed this surgery as we believe it will take a really good hand in a child with ulnar deficiency and syndactyly and make it functionally better.


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




Sunday, September 28, 2014

St Louis Shriners Hospital Does Great Things for Kids

I am very fortunate to work at the St Louis Shriners Hospital.  The first Shriners Hospital opened in 1922 in Shreveport, Louisiana and more soon followed to care for children with polio.  The St Louis Shriners Hospital opened in 1924 on the main campus of Barnes Hospital and moved to the current location on Lindbergh in 1963.  Now, 90 years after opening the original facility, the hospital is about to move back to the Barnes Hospital campus with a beautiful new facility.  We care for children with orthopedic challenges of all varieties including those with birth anomalies, trauma, scoliosis, and many other conditions.


After 90 years in St Louis, the Hospital and its staff continue to do amazing things for kids.  Here is a great video highlighting one such special patient who I know well.

Hope for Jude Video

Another amazing program which our team hosts each year is Hand Camp.  I have previously blogged about hand camp Hand Camp 2013 and Hand Camp 2012 but this camp has been an anticipated part of our year since 2008.  Each year dedicated therapists, nurses, and staff meet at Camp Lakewood in Pitosi Missouri for a weekend of fun, education, and enlightenment.  The junior counselors at Hand Camp share their experiences and guide the kids (and families) all weekend.  It is definitely one of my favorite times of the year; I am able to interact with families outside the hospital and watch them learn and share with other kids and families struggling with similar issues.

Amazingly educational, grounding, and fun.  Here are a couple of pictures from Hand Camp 2014!
The amazing junior counselors at Hand Camp 2014.  
Kids and Counselors at Hand Camp 2014

Two campers just before Hand Camp 2014
Hand Camp 2014.  

Friday, September 5, 2014

Patient TV Interview Regarding 3D Printed Prosthesis


Check out this great interview with a wonderful patient/ family regarding our 3D printed prosthesis. 
Go Sydney!

Interview with Sydney and family


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

Tuesday, August 26, 2014

Central Polysyndactyly

Polydactyly means that more than the normal 5 digits.  Typically patients have either an extra thumb or an extra pinky.
A patient with radial polydactyly (extra thumb).
Syndactyly is the abnormal joining of the fingers.  It is most common between the middle digits but can affect any of the fingers.
Syndactyly of the fingers.
While these conditions are uncommon, each is one of the most common birth (i.e., congenital) anomalies of the upper extremity.  And both typically do well with surgery.  I have previously posted several times on both syndactyly and polydactyly.

Central synpolydactyly is, in contradistinction, very uncommon.  In this condition, there is both syndactyly of the central digits and an extra digit in the middle of the other fingers.   It comes in variety of different formats- I have shown a few of these different types below.

Central synpolydactyly is, however, a very difficult problem to treat.  Even with successful excision of the extra digit and separation of the digits, the outcome is still a challenge.  Specifically, even after a "successful" surgery, finger motion is often limited and there may be finger deformity.  Yet, surgery makes sense because it does improve both function and appearance.
Left hand, central polysyndactyly.

Right hand, central polysyndactyly.

Right and left hands, central polysyndactyly.  Note the differences between the right and left sides.  There is a "bizarre" collection of bones rather than the typical straight fingers.

Happy reading.

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