Trisomy 8

There are number of different varieties of chromosomal disorders in which there is an extra chromosome, leading to a total of 47 chromosomes instead of the typical 46 (23 pairs).  The most notable trisomy is Downs Syndrome, Trisomy 21.  The more common other trisomies include Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).  Finally, […]

Great Update

Here is a nice update on our patient- Erickson- born with 3- arms.  Amazing story, more amazing kid.  Also, very interesting blog. https://tinysuperheroes.squarespace.com/blog/2013/3/11/super-erickson

L1 Syndrome and the Thumb

L1 Syndrome is a rare condition that primarily affects the nervous system including the brain but also the nerves to the arms and legs.  The name L1 syndromecomes from the name of the altered L1CAMgene.  Alterations in this gene affect the L1 protein which then affects nervous system development.  L1 Syndrome is passed to children […]

The 5- Finger Hand

The 5- finger hand is a rare anomaly in which there is no thumb, but rather 5 digits in the same plane (i.e., in a row) without a thumb.  That means each digit has three bones (whereas the thumb normally has two bones).  This is important because the normal thumb function is not present because […]

Toe syndactyly, more thoughts

I have previously posted on toe syndactyly with an example of a surgical case.  http://congenitalhand.wustl.edu/search/label/Syndactyly While this was a fascinating case with a very satisfying outcome, it is unusual.  Most cases of toe syndactyly involve the lesser toes (toes 2-5) and have little functional or appearance issues.  This type of toe syndactyly involving the lesser […]