Saturday, October 14, 2017

The 5 Finger Hand

The 5 Finger Hand is a rare congenital hand difference which I have written about in this blog once before, HERE..  It is, as it sounds, the presence of 5 fingers, all in the same plane, instead of 4 fingers and a shorter (2 phalanx), palmarly placed thumb.   The challenges of the 5 Finger Hand include
- a lack of a full first web space which is so important for large object grasp
- a finger with its extra length instead of the thumb
- a notable appearance difference

These images show a 5 Finger Hand with a small extra thumb.

The 5 Finger Hand with a small extra thumb

The 5 Finger Hand with a small extra thumb
When I consider the 5 Finger Hand, two other diagnoses come to mind.  First is the mirror hand as I have written about HERE.  This diagnosis is clearly different but the extra finger and the general hand appearance and the surgical strategies for reconstruction all make me consider the two diagnoses in a similar fashion.  And second, the thumb in the plane of the hand.  I have previously shared my thoughts in this blog specifically around ulnar deficiency and the thumb in the plane of the hand/ fingers HERE.  We have also shared our experience in the medical literature HERE.

The treatment for the 5 Finger Hand is surgical reconstruction for functional reasons and also for appearance considerations.  We typically prefer a pollicization for our reconstruction.  Most commonly, when we discuss pollicization- as we have in these Pollicization links, we do so for treatment of radial deficiency and the hypoplastic thumb.  This is clearly a different surgical indication but the surgery itself is quite similar.  In the child demonstrated above with a 5 Finger Hand, we excised the small extra thumb and pollicized the 1st finger.

Charles A. Goldfarb, MD
My Publication List
congenitalhand@wustl.edu



Friday, October 13, 2017

Hand Camp 2017

One of the highlights of my year is Hand Camp.  Each year (see previous posts), I have shared a brief post but for those of you without a Hand Camp experience, I will briefly describe.  This is a camp run by the Shriners Hospital team including the occupational therapists, recreational therapists, social workers and nurses.  Planning is a year long process and Camp Lakewood in Potosi, Missouri has been our camp site each year.  Approximately 15 families (including the child with a limb difference, parent(s), siblings) join with junior counselor, staff and team members to create an amazing weekend of learning, bonding, and growth.  Hand Camp allows kids to see and interact with others with birth differences that may be similar to their own.  It allows kids and families to interact with our amazing group of junior counselor who have successfully navigated childhood and adolescence and have such wonderful stories and experiences to share.  And it allows all to participate in great camp activities including horseback riding, archery, rock wall climbing, and so much more. 

There are so many reasons that I enjoy Hand Camp.  A few include:
- Seeing kids and families outside of the hospital environment
- Watching kids with notable hand differences accomplish so much (i.e, climbing the rock wall)
- Seeing kids and junior counselors interact
- Listening to the junior counselors as they share a lifetime of wisdom with parents of younger campers.  These lessons can be very emotional but the experience is incredible.
- Watching kids bond. 
Two amazing kids who met and bonded at Hand Camp.

A more spontaneous and 'natural picture'.  The girls share an a difference with ulnar deficiency of the left arm.

Hand Camp 2017 was a success.  Already looking forward to next year.

Charles A. Goldfarb, MD
My Publication List
congenitalhand@wustl.edu

Saturday, August 26, 2017

Cleidocranial Dysplasia


Cleidocranial dysplasia is a rare birth condition most notable for the lack of collarbones (or small collarbones- clavicles).  While this is recognizable, other findings include abnormalities of the teeth as well as delaying closing of the fontanelles (skull bone deficits).  This is an autosomal dominant condition related to the RUNX2 gene but importantly, it is often the result of a new mutation.  More information on the gene can be found HERE.  Genetic testing can help the diagnosis of cleidocranial dysplasia but may not be necessary.  The identified gene is also known as the CBFA1 gene located on the short arm of chromosome 6.

A few other sites provide good summaries of cleidocranial dysplasia including the rarediseases site through the NIH, the NORD site, and OMIM. 

From an orthopedic surgeon standpoint, the lack of the clavicle or collarbones is the most notable and unusual finding.  This provides dramatic shoulder mobility but does not specifically cause problems with daily function.  Therefore, surgery or other intervention is not required.  And this is different than pseudoarthrosis of the clavicle- a condition on only one side (vs both sides with cleidocranial dysplasia) and one that may benefit from surgery. I have previously blogged on it HERE. 

The images of a patient with cleidocranial dysplasia without clavicles are dramatic- demonstrating the mobility of the shoulders seen below.

Patient with Cleidocranial dysplasia which is not immediately noticeable.

Patient with Cleidocranial dysplasia showing dramatic flexibility.

Patient with Cleidocranial dysplasia.

Patient with Cleidocranial dysplasia without obvious difference from behind.


Cleidocranial dysplasia x-ray demonstrating absent clavicles

Charles A. Goldfarb, MD
My Publication List
congenitalhand@wustl.edu


Wednesday, August 23, 2017

Hypoplastic Thumb Reconstruction


Patients with a small thumb- a hypoplastic thumb- often have functional limitations due to limited muscle development and a lack of joint stability.  Therapy is always the first line of treatment but is often unsuccessful with this anomaly.  We therefore often proceed with surgical reconstruction.  I have previously blogged about the surgical choices and recently posted a video of function after surgery.  In this post, I wanted to share anoth brief video on what a successful surgical result look like, at the early time point of 2 months.  This patient was already thrilled with his thumb motion and strength and demonstrates excellent motion of the thumb.  As you watch the video, note the surgical scars (still maturing) as well as the lack of muscle around the thumb (defining the hypoplastic thumb).






Charles A. Goldfarb, MD
My Publication List
congenitalhand@wustl.edu

Tuesday, August 8, 2017

Thumb Reconstruction in Action

My favorite day of the month is our 'big' clinic at the Shriners where my partner and I see patients all day (no surgery).  It is such a pleasure to see new and followup patients with so many different rare conditions.  I learn at each of these clinics because patients show me (and sometimes tell me) what works, what doesn't, and why.  Needless to say, the residents and fellows learn so much as well- it is an unusual experience with rare conditions, great kids and great families.

Today, I had the pleasure of seeing one patient back, about 6 years after reconstruction of his left thumb.  He has hypoplastic thumbs, a topic on which I have posted about several times including HERE and HERE.  Actually both of his thumbs are small with limited muscle but his left side was the problem leading to surgery.  The right side has continued to do well despite a lack of full muscle development.
Underdeveloped thumb, left side had surgery for reconstruction with Huber Opposition.




The left side was reconstructed with a Huber opposition transfer in which a muscle (abductor digiti minimi) is transfer to the thumb.  This is one great option and it used to be my first choice to help the thumb move better.  We recently published our positive experience with this operation in The Journal of Hand Surgery.  These pictures are, to me telling.  The thumb is nicely resting in a position of function.  However, some have observed that it is hard for the patient to flatten the thumb after this procedure.  I have been using a somewhat different surgery over the last few years (the FDS tendon opposition transfer) with very good results also.

Pictures are helpful but video tells the real story.  Watch his 'new' skill.  He is quite talented and his thumbs work amazingly well.





Charles A. Goldfarb, MD
My Publication List
congenitalhand@wustl.edu




Saturday, May 20, 2017

Hand Anomalies and Adoption

Adopted Kids and Polydactyly

In 2015 (the most recent year with statistics available), there were 5647 children adopted to parents in the USA.  About half of those were from China.  https://travel.state.gov/content/adoptionsabroad/en/about-us/statistics.html

I am fortunate to see many families with newly adopted children.  It is one of the most enjoyable parts of my practice.  Sometimes I am able to assess the paperwork prior to the actual adoption to provide information for families seeking to better understand the challenges that adoption may bring. To meet these amazing families that have traveled across the world to adopt kids in need is such a pleasure.  These children are brought to see me for one of three reasons:
1)    To assess an upper extremity difference that has not been treated
2)    To assess an upper extremity difference that has been treated, perhaps well and perhaps in a less than ideal way
3)    To generally assess the child (least common).

I admit that these kids and families are some of my favorite to treat.  The joy the families bring and the interest in learning more about their new child’s upper limb difference is powerful.  There are added complexities in treating newly adopted kids including the social aspect of the adoption.  The adopted child takes time (variable) to adjust to the new home environment, their new family (possibly new brothers and sisters), etc.  While there may be a notable limb difference, we do not rush to treat the patient.  We might institute therapy or splinting but our primary goal is to give the families as much time as needed to limit any additional ‘trauma’ that surgery might inflict.  We do recognize that some families are eager to move forward but patience is typically our goal.


This is a newly adopted 4- year old child who was previously treated in China.  I believe that she had radial polydactyly (extra thumbs on each hand) and was treated with excision.  While she functions well, there is an appearance difference on both thumbs and some discomfort when bumped, especially on the left.  The right side is in a better condition- it is somewhat stiff with mild angulation.  Motion is limited on both sides but more so on the right (although there is no pain).

When the time is right, we will consider surgical reconstruction to better align the thumbs.  The right thumb, on top, is better aligned.  The left thumb (below) has the bump which represents a part of the extra thumb which was only partially excised in China.



Charles A. Goldfarb, MD
My Publication List
congenitalhand@wudosis.wustl.edu

Media Links

I would like to share a few media links which I have enjoyed.  The first is from the New York Times- LINK- on the 3D printed prosthetic.  Interesting read and highlights some of the information we have also shared: My Blog's 3D printed information.

Additionally, the St Louis Post Dispatch recently shared a great story about one of our patients with a myoelectric 3D printed prosthetic.  We are still working out some minor kinks (related to myoelectric firing of the prosthesis) but she is doing great.  Check it out HERE.

Finally, the Shriners Hospital in St. Louis just opened a new lab, creating an amazing collaboration between the Shriners Hospitals, Washington University School of Medicine, and the Department of Orthopaedic Surgery.  We are fortunate to have Farshid Guilak at the Shriners to direct the lab and the research program.  The new lab is profiled HERE.  Farsh joins Michael Whyte who's fantastic bone research in kids has led to some groundbreaking discoveries on rare diseases and the entire Orthopaedic team.  We believe this multifaceted approach will change orthopaedic research and, through translation discoveries, change orthopaedic care for kids (and adults) over the years to come.




Charles A. Goldfarb, MD
My Publication List
congenitalhand@wudosis.wustl.edu

Saturday, April 29, 2017

Phocomelia

Phocomelia is defined as 'seal limb'- a birth anomaly (i.e., congenital malformation) in which the hands are essentially attached to the chest.  There may be a short bone connecting the hands to the chest, either a forearm bone or arm bone, but not both.  Phocomelia is incredibly rare and really became a recognized abnormality in relation the the thalidomide epidemic in the late 1950s and early 1960s.  Thalidomide was approved for use (actually without even a prescription in Germany) as it had proven safe in animal experiments.  It was used for morning sickness and nausea in pregnant women, especially in the first trimester (which happens to be when the limbs develop and form). There was an explosion of cases of phocomelia in both Europe and Australia  and Canada (rare in the USA as the drug was never approved for use).  Thankfully, the source of the increased incidence of phocomelia was identified and the drug was removed from use (it has recently been used for nausea in chemotherapy for those without a chance of being pregnant).  There have been notable books and articles on this terrible epidemic.  50 years after the epidemic, the drug manufacturer, Grunenthal, finally apologized.

Dark Remedy: outstanding book exploring the thalidomide- phocomelia epidemic.
Specifically defined, phocomelia means a segmental deficiency of the extremity, typically an absence of the either the arm or forearm segment.  But, it is important to remember that the segments that are present, including the hand, are never normal.  In 2005, we shared the St. Louis and Dallas experience around patients diagnosed with phocomelia.  We examined the extensive patient experience at three busy hospitals: Texas Scottish Rite, St. Louis Shriners Hospital, and St. Louis Childrens Hospital to assess all patients with a diagnosis of phocomelia.  We learned that most of the kids so diagnosed really had either a severe form of radial longitudinal deficiency More information on RLD or ulnar longitudinal deficiency More information on ULD and NOT phocomelia.  We established and defined the Type 5 radial and ulnar deficiency in the manuscript describing our findings:  Manuscript Link  There were some kids in our large group that could not be labeled as radial or ulnar longitudinal deficiency- those were kids more likely to have the segmental deficiency of phocomelia.

So while most kids that appear to have phocomelia really have either a radial or ulnar longitudinal deficiency, some will truly have a segmental defect as phocomelia.  Typically this is likely a spontaneous mutation or birth defect but there are some inherited patterns such as Roberts Syndrome, among others listed at OMIM- OMIM syndrome list.

I am grateful that the family of this child agreed to allow us to post pictures and x-rays to demonstrate the appearance of phocomelia.

Patient with phocomelia.  Note the limited hand development.

Patient with phocomelia.  Note the limited hand development.

X-ray of phocomelia patient.  There are several fingers and a short bone attaching to the chest.

Patients with phocomelia have functional challenges primarily because the limbs are short.  Getting the hands to the mouth and using the toilet are tough due to the length of the arms.  This patient has normal lower extremities and some kids will chose to use their feet for functional activities including writing and eating.  We absolutely support this type of functional activity and sometimes have to encourage schools to be supportive of this as well.  In addition, there are therapy tools and tricks which can help with all sorts of daily activities to make life easier.  Finally, surgery is only very rarely indicated and is typically focused on either stabilizing digits or lengthening the bones that are present.

Charles A. Goldfarb, MD
My Publication List
congenitalhand@wudosis.wustl.edu

Sunday, April 2, 2017

Anesthesia- Do we know the risk in a child?

Recently, there has been much discussion regarding anesthesia in the child.  The concern is appropriately about safety- do we know when it is 'safe' to allow anesthesia for children.  There have been a large number of studies on this topic and recently the FDA voiced concerns.  I will try to summarize the issues and our understanding (at least the understanding of an informed surgeon).

1) Anesthesia has more risk in children compared to adults.  There are many reasons for this including simple concepts such as the small size of the windpipe in the very young child.  Cardiac events and even death are risks in any anesthesia and these are higher in young children- however, remember that anesthesia is very, very safe but the risks are somewhat higher in young children compared to adults.

2) One of the concerns is the risk of learning delays or 'cognitive' difficulties for children that have surgery at a young age.  This is very difficult to study for some obvious reasons including only young children with serious issues have major or repeated surgeries at a young age.  There really is very limited know risk to simple, short surgeries such as ear tubes or short orthopedic surgeries.  A very good study was published from Sweden on this topic.

This study showed very minimal differences in academic performance based on exposure to anesthesia and it showed things like maternal education and season of birth (i.e., winter vs summer) had an even bigger effect.  Other studies, such as the 'PANDA' and the 'GAS' study did not find evidence for an association with single brief exposures to anesthesia.

3) The anesthesia provider matters.  I have blogged previously that I believe experience matters in the care of your child.  An experienced surgeon is, I strongly believe, better able to give your child the care he/ she needs for the best possible outcome.  The literature also strongly supports that the anesthesia team matters to the safety of your child.  A busy children's hospital is a safer place for surgery than the anesthesia provided by those who only occasionally take care of kids.  One study showed a risk of 7 complications/ 1000 surgeries for an anesthesia team that performed less than 100 surgeries a year compared to 1.3 complications/ 1000 surgeries for teams that performed more than 200 surgeries/ year.

The FDA recently provided some thoughts.  The link to the entire statement is provided HERE.   The first two paragraphs are key:

The U.S. Food and Drug Administration (FDA) is warning that repeated or lengthy use of general anesthetic and sedation drugs during surgeries or procedures in children younger than 3 years or in pregnant women during their third trimester may affect the development of children’s brains.

Consistent with animal studies, recent human studies suggest that a single, relatively short exposure to general anesthetic and sedation drugs in infants or toddlers is unlikely to have negative effects on behavior or learning. However, further research is needed to fully characterize how early life anesthetic exposure affects children’s brain development.

Additionally there are two websites that have received publicity.
1. Smarttots.org Link  This site discusses some of the ongoing research
2. Safetots.org Link  This site discusses some of the general concepts I have shared and the importance of an experienced pediatric anesthesiologist.

The bottom line is that we should carefully consider anesthesia in anyone, especially a young child.  Lengthy and repeated surgeries may carry some risk and anesthesia by non pediatric providers does have some risk.  Every decision for surgery is a serious one.  However, after reviewing the literature, I feel that surgeries for problems that are affecting a child's hand or arm (typically shorter surgeries and unlikely to require second surgeries in a short interval) have very low risk in the appropriate hands.

Charles A. Goldfarb, MD
My Publication List
congenitalhand@wudosis.wustl.edu

Sunday, March 26, 2017

Pediatric Hand Study Group 2017

I recently traveled to Philadelphia for the annual meeting of the Pediatric Hand Study Group (PHSG).  This group is composed of hand surgeon and therapists who are committed to caring for kids born with hand differences.  The meeting was excellent as usual and the hosts included the surgeons from Childrens Hospital of Philadelphia and the Shriners Hospital of Philadelphia.  There were numerous excellent presentations on varied topics with some meeting focus on arthrogryposis.   Lindley Wall and I presented on our research on humerus osteotomy in arthrogryposis, Steindler flexorplasty in arthrogryposis, and Mobius Syndrome.

We were also honored to received the 2017 Paul R. Manske Award for the Best Congenital Research Manuscript from 2016.  The manuscript was our report on a classification for the uncommon diagnosis, synpolydactyly of the hand.  It was a multicenter effort including St Louis (Wall, Calfee, and myself), Boston (Bae), and Dallas (Oishi).  I believe this manuscript gives researchers more information to allow discussion of these rare cases and the classification should improve treatment planning.  We are grateful for the honor!





Charles A. Goldfarb, MD
My Publication List
congenitalhand@wudosis.wustl.edu

Sunday, February 26, 2017

The Hand in Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia (MED) is an uncommon anomaly of the bone and cartilage at the ends of the bones (epiphyses) in the growing child.  There are 6 primary types of Multiple Epiphyseal Dysplasia. All are transmitted in an autosomal dominant fashion except type 4.

EDM1 is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein              (COMP).  Most common.
EDM2 -a mutation in the COL9A2 gene
EDM 3 -a mutation in the COL9A3 gene
EDM 4 -a mutation in the DTDST gene.  This type is autosomal recessive whereas the others are                      autosomal dominant. 
EDM5 -a mutation in the MATN3 gene
EDM6 -a mutation in the COL9A1 gene

Historically, the more severe type of Multiple Epiphyseal Dysplasia was known as the Fairbank type (dominant) while the more mild form was known as the Ribbing type.  The Ribbing type was thought to have normal or more normal wrist and hands.   These terms are no longer utilized.

The abnormal epiphysis at the bone ends leads to progressively worsening ossification and this causes joint abnormalities often leads to stiff joints and arthritis.  Onset varies by the particular type- more severe types present earlier with childhood pain, often in the hip or knees but also potentially involving the hands and wrists. The fingers may be short and stiff.

The diagnosis is based on a clinical suspicion but it can be a challenging diagnosis which is based on the patient’s history and examination.  An experienced orthopedic surgeon or radiologist may detect x- ray changes- this experience is the key to making the diagnosis.  The diagnosis may be confirmed by genetic testing as noted above.

There is no current treatment to prevent worsening or change the course of Multiple Epiphyseal Dysplasia.  Ultimately, there is a future potential for genetic intervention.  Currently, hand or physical therapy may be helpful to maintain motion and surgery can be helpful to contour the bone and joints and improve motion and decrease pain. 


This is the case of an 8 year old child with Multiple Epiphyseal Dysplasia.  I met the patient to assess the hands and wrists which had been stiff since a young age.  There was discomfort with daily activities but the biggest issue was related to function given the finger stiffness (present for many years).  The clinical pictures demonstrate the finger posture (most notably PIP joint stiffness)  and the x- rays confirm loss of joint spaces.

Multiple Epiphyseal Dysplasia hand clinical photograph with stiffness of multiple joints

Multiple Epiphyseal Dysplasia hand side- view clinical photograph with stiffness of multiple joints


Multiple Epiphyseal Dysplasia hand x- ray


Charles A. Goldfarb, MD
My Publication List
congenitalhand@wudosis.wustl.edu