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

Sunday, February 19, 2017

The Crooked Thumb

The process of limb development is truly amazing and unbelievably complex.  Developmental biologists and scientists help to explain these processes and our knowledge grows day by day.   As I explain to parents, what is truly remarkable is not that there is a child born with a limb difference but rather that it happen so uncommonly.  One such uncommon finding is a crooked finger, or for the purposes of this post, a crooked thumb.

In my experience, the most common cause of a crooked thumb is an extra bone which creates a triphalangeal thumb.  I have previously written about the type of thumb HERE.  Typically, there are two bones in the thumb but, like fingers, there can occasionally be three bones- the TRIphalangeal thumb.  This can occur in association with an extra thumb (see HERE) or in isolation.  Not every triphalangeal thumb is crooked- the alignment depends on the shape of the extra bone.

When the extra bone is triangular in shape, the thumb is crooked and can affect function.  Typically, surgery to remove that bone (or straighten it) is performed.  In doing so, the thumb is shortened as well.  When the extra bone is more normally shaped- rectangular- then the thumb is not crooked and a decision for surgery is more complex.  For some kids, the long thumb may not be a problem but for others, the length of the thumb + the extra joint can cause functional issues.

This 18- month old came to the office because of a crooked thumb.  Mom had noticed some difficulty with pinching and decreased use of the thumb.  Here are pictures and x-rays which demonstrate the deformity.

Crooked thumb related to an extra bone- a triphalangeal thumb.


Crooked thumb related to an extra bone- a triphalangeal thumb.  It is more difficult to see in this side- view picture.

The extra bone can be seen in the x- ray causing the thumb to be crooked.
The extra bone in this thumb is more difficult to see in this x- ray.

Surgery to address the crooked thumb addresses the extra bone.  A recent investigation carefully evaluated the best way to surgically treat this condition.  The authors evaluated excision of the extra bone compared to angular correction and fusion of one of the joints- the results were similar.  New Article.

The are other causes of a crooked thumb in a child.  These include the small thumb, or hypoplastic thumb- I have posted numerous times on this TOPIC.  Another cause is less likely in the newborn but common in childhood- a thumb fracture which can classically lead to deviation.

The bottom line is that the crooked thumb can be both a functional and an appearance issue.  Surgery can effectively correct this issue.

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





Thursday, January 19, 2017

The Arthrogryposis Thumb

I have previously written many times about arthrogryposis and several years ago focused on the thumb- see Link.  As with every part of arthrogryposis, each child is affected differently.  But the thumb is affected, the position of the thumb can really make a big difference.  Consider these points:

1) The thumb normally provides about 40% of hand function.  So, in a child with arthrogryposis and a thumb which is not functioning well- overall hand function will be affected.  The thumb web space is key for holding big objects such as a soda can and, if the thumb is tight, that action may not be possible or may require using both hands together.
2) Not only will a poor thumb limit hand function, it can be doubly bad by also interfering with function by getting in the way.  Kids with more notable arthrogryposis often use both hands together (bimanual activities).  If the thumb is in the palm and can't be moved, using the two hands together may be challenging.

As I have previously written: Link to arthrogryposis posts, there are several surgeries which we in St. Louis like to use to help function including, elbow release, humerus rotational osteotomy, wrist closing wedge osteotomy, and thumb first web space release.

The tight thumb in arthrogryposis is likely due to several factors including limited muscle development and tight skin.  The thumb rests across the palm and straightening it can be tough.  To treat kids so affected, we can rotate skin from the index finger across the thumb web space while releasing tight muscle in the palm.  Sometimes we add a tendon transfer for thumb positioning.  We often hold the thumb in a better position with a metal pin for a few weeks while the soft tissues heal.   Here are a few pictures showing a range of presentations for kids with arthrogryposis and a tight thumb.

Somewhat less severe but still notable tight thumb in arthrogryposis.  Passive motion, demonstrated, was much better than active motion or the patient's ability to pull the thumb out of the hand.

Severe hand involvement in arthrogrypsosis

Severe hand involvement in arthrogrypsosis

If therapy fails to improve thumb position and thumb mobility, surgery can be considered.  Surgery improves thumb passive motion and hopefully also allows the child the ability to actively move the thumb to a better position for function.  Consider these pictures after surgery:

The thumb in arthrogryposis several weeks after surgery with healing of the flap and a markedly improved thumb position.

The thumb in arthrogryposis several weeks after surgery with healing of the flap and a markedly improved thumb position.

 The bottom line is the kids with arthrogryposis can be helped with function through therapy and through surgery.  Treatment of the thumb has become more commonly performed and we (provider and family) have been happy with the results.


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

Saturday, December 31, 2016

Surgery for Macrodactyly

Macrodactyly is an uncommon birth condition of the upper extremity.  I have posted several previous times on macrodactyly:

Macrodactyly Post
Macrodactyly Post 2

Macrodactyly means 'large finger' and sometimes is referred to as local gigantism.  My other posts have discussed different facts about the diagnosis including why this may happen but here I would like to discuss three potential surgeries for macrodactyly.

1. Local control of size and growth.  It is not uncommon that this surgery is performed multiple times on a young child.  The idea is to debulk the finger (primarily by removing extra fat and skin) but also potentially closing growth plate early.  The appeal of this surgery is that it is straightforward and seemingly less of a major step.  But there is a real negative- the potential for the need to repeat this surgery multiple times on a growing child.  This is an important consideration which must be considered.

2.  Ray resection.  If there is one large digit in macrodactyly, excision of that digit may be the best option.  This might make sense for a few reasons including the fact that the digit likely does not function well (often stiff) and is a cosmetic concern.  It is typically the middle finger that is large although the thumb and index finger may be involved.  But, when the middle finger is the one that is primarily involved, the functional and appearance concerns can be made notably better with this surgery.  The surgeon must consider whether to:
- only excise the middle finger (often called the ray resection which means removal of the finger and the appropriate metacarpal bone of the hand)
- excise the middle finger and move the index finger into its position.  The benefit of this surgery is that it makes a more normal appearing hand and removes the gap between the index and ring fingers.

Here is a recent surgical case in an adult who had grown frustrated with his large middle finger which did not help him functionally.  
Macrodactyly primarily involving middle finger.


Macrodactyly primarily involving middle finger.
Macrodactyly after ray resection with a nice appearance outcome.
Macrodactyly after ray resection and carpal tunnel release

3. Carpal tunnel release.  Macrodactyly is often associated with an enlarged median nerve and enlarged nerves to the fingers (digital nerves).  In both kids and adults with macrodactyly, this can lead to carpal tunnel syndrome including pain, numbness, and tingling.  A relatively straightforward carpal tunnel release surgery can relieve these symptoms.

Here is another recent macrodactyly case in which the patient was not concerned about the appearance of the hand and felt that function was satisfactory.  The thumb and index finger were most affected.  We therefore only performed a carpal tunnel release for the symptoms of pain and tingling.

Macrodactyly involving the thumb and index finger primarily.

Macrodactyly involving the thumb and index finger primarily.

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