Saturday, March 30, 2019

Sprengel Deformity Outcome


Sprengel deformity is the presence of a high- riding shoulder blade (scapula).  I have previously blogged about it HERE (although it has been awhile).  Sprengel deformity is uncommon although the exact incidence is unclear.  It can be associated with a number of conditions including Klippel Feil (cervical spine vertebrae fusions), scoliosis, and other less common conditions (although all of these are very rare).  We believe it occurs during early development.  All of us start with the shoulder blades resting high in the neck and then, during fetal development, the shoulder blades migrate/ travel down to their final position in the upper back.  There may be abnormal tissue or even bony connection between the shoulder blade and the spine (it is unclear if this is cause or effect). 


Patients with a Sprengel deformity present with a bulge in the posterior neck- the shoulder blade.  They typically have limited shoulder motion including the ability to bring the arm from their side and in front of them.  Specifically, both motions may be limited to prevent the hand and arm from reaching high above the patient.  There is rarely pain.  The motion limitation is determined by the severity of the Sprengel deformity. 




Sprengel Deformity on the patient's right side.  
Sprengel Deformity on the patient's right side. 

Treatment
While therapy can be utilized to work on motion in Sprengel deformity, most patients with motion limitations and the notable neck bulge are treated with surgery.  The goal of surgery is to bring the shoulder blade down from the neck, back into its position in the upper back.  Because the shoulder blade is always smaller than the ‘normal’ one, the sides are never exactly symmetrical.  The surgery we utilize is the Modified Woodward procedure although there are several similar surgeries which can be effective.  We prefer a younger age for surgery but will typically treat patients aged 3-8 years or so.  The reason we prefer operating on younger children is because we feel that motion will improve more compared to treatment in older kids.

Finally, while the goal of surgery is to improve motion, a secondary benefit (an important one) is the improvement in appearance.  Sprengel deformity does cause a real ‘bulge’ in the neck which is quite noticeable.  Surgery definitely improves this although, as noted above, the shoulder blades typically appear asymmetrical due to the fact the affected one is smaller than the ‘normal’ one (although this is only visible without a shirt).  One important consideration in surgery is for the surgeon to avoid the temptation to bring the shoulder blades ‘level’.  This can increase the risk of a nerve stretch injury.

The patient below is after surgery for Sprengel deformity and the size difference in her shoulder blades is clear.   However, her motion is much improved, as is the appearance of her neck.  Unfortunately, the improvement in her neck bulge is hidden by her hair.


Patient with Sprengel Deformity on her right, after surgery



Patient with Sprengel Deformity on her right, after surgery



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

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Sunday, March 10, 2019

Research Matters

The Paul R. Manske Award for Best Congenital Manuscript is named for my late partner who had such an important impact on the field.  This Award recognizes the most impactful paper related to kids born with hand or arm differences, anomalies, etc.  I am happy to say that our paper was selected for this award by the Pediatric Hand Study Group at the recent annual meeting in Denver:

Bae DS, Canizares MS, Miller PE, Waters PM, Goldfarb CA.  Functional Impact of Congenital Hand Differences: Early Results from the Congenital Upper Limb Differences (CoULD) Registry.  J Hand Surgery, 2018; 43(4):321-330

The paper, Abstract Here, shared the findings from our CoULD Registry regarding function in kids with these birth differences.  Simply put, we found that that these children did have lower upper extremity function scores but had better peer relationships and positive emotional states compared to the normal population.  Really quite amazing findings which are similar to at least one previous report by Ann Nachemson in 2011 which showed positive psychological well being in a smaller but similar group.  I previously blogged about this paper HERE.

This paper is the result of a great deal of hard work from the CoULD Group.  The idea is that we follow children with birth differences or anomalies over time to better understand the effect of time and treatment.  We follow the results of surgery, type of surgery, challenges with surgery, etc but also kids treated with therapy or simple observation.  This group was founded by Don Bae and I to address one of the great challenges in understanding of kids with birth differences- the lack of studies with a sufficient numbers of kids.  So, we began enrolling kids in 2014 and we have added 5 additional sites with a number of other sites set to join.  So far, we have enrolled more than 2,400 children with the 5 most common diagnoses being radial polydactyly, ulnar polydactyly, syndactyly, radioulnar synostosis, and symbrachydactyly.  Most of the 2,400 were malformations of the upper limb or hand plate.  There are now a number of research projects in the works and we are excited to see how these studies will change our understanding of birth anomalies and their effect on children!

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