This list will be updated on a regular basis with books that send the right message to kids with congenital differences. I welcome any feedback or suggestions.
1. Harry and Willy and Carrothead by Judith Casely.
2. Oliver's High Five by Beverly Swerdlow Brown
3. Elmer by David McKee
4. Why Me? by Julie Parker
Charles Goldfarb, MD, the author of this blog, is an orthopedic hand surgeon at Washington University in St. Louis specializing in congenital hand and upper extremity disorders. He practices at St Louis Childrens Hospital and Shriners Hospital for Children in St Louis, Missouri. This blog was created to demystify abnormalities of the hand and wrist that children may experience from the time of birth. Comments and feedback are welcome.
Tuesday, April 10, 2012
Friday, April 6, 2012
Great Function in Ulnar Deficiency
Take a look at this amazing 5 year old with a marked, bilateral ulnar deficiency. While he has good shoulder motion, he does not have an elbow joint on either side. He has great wrist motion which helps make up for his lack of elbow motion. He has 2 fingers on the right hand and 2 fingers and part of a thumb on the left. The family has not been interested in surgery to this point as he functions so well and has so few limitations. I do believe there are surgeries that could improve his function (especially making a longer thumb on the left hand) now and there may be more options in the future. One concern is that as his arms grow longer, it may become more difficult to get his hands to his mouth.
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Ulnar deficiency affecting both extremities |
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Ulnar deficiency. Patient can easily get his right hand to his mouth using wrist motion |
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Ulnar deficiency. He uses the right hand to help the left get to his mouth. |
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Ulnar deficiency. Overhead. |
Thursday, April 5, 2012
Diagnosis and Evaluation
So your child has a congenital anomaly of the upper
extremity. The first step in
moving forward is assuring the correct diagnosis. While this sounds obvious, it is not always easy. Some conditions are
over- diagnoses such as constriction band (amniotic band) syndrome and some are
under-diagnosed, such as symbrachydactyly. The correct diagnosis is important for a few reasons. First, it will help to provide
information about risks for the future.
That is, risk that another child may have something similar and the risk
that the affected child will have a child (someday far in the future) with a similar
anomaly. Second, it may help
everyone understand why this happened.
As we will tell you in clinic, it is important to realize that this is
almost never the result of something mom did or did not do. And third, the correct diagnosis is
helpful so that we can look for any associated conditions. While a geneticist can be helpful for
all these reasons, a knowledgeable surgeon will also understand these
issues. Listed below are tests for
consideration based on general diagnoses.
Obviously, the workup will vary for every child based on a variety of
factors- this is not by any means meant to be a compulsory list of tests.
Radial Longitudinal Deficiency (RLD)- RLD has the
most associated conditions and therefore the largest work- up.
- · Spine xrays
- · Complete Blood Count
- · Echocardiogram
- · Renal Ultrasound
- · Chromosomal breakage test to rule out Fanconi anemia
- · Clinical examination including heart and spine
Hypoplastic Thumb
- · Same as RLD
Ulnar Longitudinal Deficiency
- · Clinical examination of spine and lower extremities
- · Possible xrays
Central Deficiency
- · Clinical examination for cleft lip/ palate (usually obvious)
Amniotic Constriction Band
- · Clinical examination of torso and all 4 extremities
Symbrachydactyly
- · Examination of chest wall and pectoralis muscle
Extra thumb (radial polydactyly)
- · Typically no additional workup necessary
- · However, if skin color changes (cafĂ© au lait spots) and short stature, further work- up may be considered (possible Fanconi anemia although exceedingly rare). This point is debatable.
Extra small finger (ulnar polydactyly)
- · For the small extra digit (typically in African Americans), no additional workup is usually necessary
- · For a full sized extra digit, especially in Caucasian or Asian patients, clinical examination and referral to a geneticist is considered as approximately 1/3rd of patients will have a syndromic association
Syndactyly
- · Typically no additional workup necessary
- · Ulnar sided syndactyly without obvious other association merits physical examination and possible genetics referral (oculodentodigital dysplasia possible)
- · Associated conditions include Aperts Syndrome but this diagnosis is almost always made prior to a visit to the surgeon
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