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

  • ·      Examination of chest wall and pectoralis muscle

Extra thumb (radial polydactyly)
  • ·      Typically no additional workup necessary
  • ·      However, if skin color changes (café 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

  • ·      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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