Sunday, April 27, 2014

Recent Publications, April 2014

I have been asked to regularly add to my blog recent publications which are important for children with congenital hand anomalies.  Here are 3 publications from the last few months.  These 3 publications are all in in the Journal of Hand Surgery.

Transverse Bone in Cleft Hand  This manuscript details our findings in comparing two groups of patients with cleft hand- those with or without a sideways bone (transverse bone).

Holt Oram Syndrome  This manuscript is a short review on a common syndrome which may affect children with Radial Longitudinal Deficiency (RLD).

Soft Tissue Distraction Before Centralization in RLD  This final manuscript discusses our findings in treating patients with RLD with centralization.  Specifically, we compared two groups of patients- those treated with and without a fixator prior to centralization.

A great scientific article has a couple of key components.  First, it includes a large number of patients. Second, there is a long follow- up time.  Specifically, this means  more than 5 or more than 10 years between surgery (or first visit) and last visit.  And finally, patients are ideally thoroughly assessed before treatment to allow a great comparison to after treatment.  There are many other components to consider but these 3 are key and are a particular challenge in the field of congenital hand surgery.

Publications on patients born with hand anomalies has always been a challenge.  First, even in busy centers like ours, the # of patients seen is limited.  Second, accurate record keeping and good data collection takes time and requires the cooperation of patients, families, and therapists.  It requires regular follow- up visits and good communication.  And third, kids change as they grow and comparing function before and after a surgery is difficult given the fact that kids grow and mature naturally (meaning with or without surgery).   A larger hand and a more mature child will naturally function better than a younger child- the challenge is to figure out what role surgery plays in the improvement over time.

The three papers above all add to our understanding of challenging problems.  The most straightforward is on Holt Oram Syndrome.  This is a review of the important features of this problem. The other two look at relatively large numbers of kids with 2 rare problems (cleft hand and RLD). Both papers use 2 groups of patients to allow comparisons of different features and different treatments.

Wednesday, April 9, 2014

Symphalangism (stiff fingers)

Symphalangism is a rare birth anomaly of the fingers which literally means: joined bones.  Most commonly, it refers to an ankylosis (bony union) or fibrous tissue union of the finger bones preventing finger motion.  It can be nonhereditary or it can be hereditary.   Nonhereditary symphalangism occurs without known family history.  It can be associated with other nonhereditary conditions such as Aperts or Polands syndrome.  Sometimes the fingers can be short as well as stiff.

There are two main types of hereditary symphalangism: SYM1 (Cushing Symphalangism; OMIM #185800) which is stiffness of the PIP joints, the wrist and ankles and deafness.  It is passed in an autosomal dominant fashion (50% chance of passing it on) and has been localized on the genome at 17q22.  SYM1  There is also a SYM1b (OMIM #615298) has been localized to chromosomal 20q11 and relates to a defect in the GDF5 gene.  SYM1b

The other inherited type of symphalangism is SYM2 (Distal Symphalangism, OMIM %185700).  This includes stiffness of the DIP joints of the hands and feet.  Less is known about this condition but it is also autosomal dominant.  SYM2

Traditionally, attempts to surgically improve finger motion in symphalangism have had limited results.  However, recently, Baek, et al reported reliably improved motion with surgical release.  They also felt surgery in younger children may be more successful.  Baek paper

Patients with symphalangism present with a stiff finger (or more than one, finger or toe).  On examination, the stiff joint will not have the normal skin creases on the top or bottom.  X-rays may appear similar to the normal fingers but often the two bones are fused on x-ray so that there is no joint.

Here is one example of a child with symphalangism and a single, stiff joint.

Middle finger (long finger) symphalangism.  Note the lack of skin creases over the PIP joint.

Symphalangism.  Note the lack of finger flexion of the middle finger at the PIP joint.

The x- rays in symbrachydactyly look normal without clear evidence of the abnormality.

Thursday, April 3, 2014

Severe Madelungs Deformity

I have posted several times on Madelungs Deformity but a recent follow- up visit with a happy patient led me to post again.  One previous post was on More typical Madelungs and one on Madelungs after trauma.

Patients with an inherited Madelungs are much more common in my practice (compared to Madelungs following trauma) even though both are quite uncommon in general.  It can affect one wrist or both.  It can affect just the wrist or the whole forearm can be affected.  Madelungs may be painful but usually the pain is mild when present.  It typically affects motion of the wrist or forearm but not usually terribly. There is often visible deformity especially when looking at the wrist from the side view (see below)- it looks like the wrist "sags."  Patients typically see me as teenagers but I also see patients in their 20s and 30s- these patients are more likely to come in because of pain on the ulnar (pinky) side of the wrist.

I have am a fan of the dome osteotomy for Madelungs which was first described in Dallas.  The first description Original article described the procedure and early outcome and the Second Article described longer term outcome.  This paper reported very good outcomes in general but slightly less ideal outcomes in those with whole bone disease and more severe original deformity.  In older patients addressing the radius bone (where the problem originates) may not be enough.  In those patients, shortening the ulna bone can be an effective option as well.

Below is an 18 year old patient about 4 years after treatment for bilateral Madelungs deformity.  She presented with pain, deformity, and limited range of motion.  She chose to undergo surgery for her severe Madelungs.  She did quite well and now has no pain, has resumed all activities, has less (but still some) deformity, and great motion.  She is happy.  Her x- rays are improved but still have deformity and do not look "normal."

Madelungs deformity with classic x- ray appearance.  There is a widening between the forearm bones and "v-shaped" appearance of wrist bones.  
Side view of Madelungs.  Not the fact that the forearm bones, the radius and ulna, do not overlap.  The ulna is dorsal.

Madelungs after osteotomy (cutting) of the radius.  Metal pins in place.
Madelungs after osteotomy, side view.

Clinical photographs demonstrating an excellent range of motion after surgery on both wrists.  No pain.

Madelungs deformity after surgery.  A small amount of wrist "sag" is noted.

Madelungs final x-rays.    Note appearance and shape of the bones and relationship between bones (compare to preoperative xrays above).  This is not "normal" but is more anatomically correct.
Madelungs side view with improved alignment of the bones.