Wednesday, November 14, 2012

Carpenter Syndrome

Carpenter Syndrome is one rare type of acrocephalopolysyndactyly, Type 2.  It is closely related to acrocephalosyndactyly, with the most notable type of this group of disorders being Apert syndrome.  These syndrome all have craniosynostosis (premature fusion of the suture lines of the skull) and syndactyly, with or without polydactyly as well.  Carpenter syndrome has been further described at the Online Mendalian Inheritance in Man- http://www.omim.org/entry/201000  and http://www.carpentersyndrome.com/links.html

I have not cared for a child with Carpenter Syndrome but have had the recent pleasure of meeting and caring for a delightful young adult.  This patient had previous surgeries to address the polydactyly and syndactyly with primary current complaints of deformity of the fingers and the thumb and a narrow first web space of the thumb.  The finger deformities affected the long and ring fingers, the site of the previous syndactyly (likely bony or complex syndactyly), previously treated at a young age.

Narrow first web space in Carpenter Syndrome.

Finger appearance in Carpenter Syndrome appearance after syndactyly reconstruction in the past.  Note especially the deformity of the ring finger.  The long finger is also angled but more difficult to see in this picture.

Carpenter Syndrome xrays.  Not that the middle phalanx bones are not rectangular- leading to deformity.

The thumb in Carpenter Syndrome.

At the patient and family's request, surgery was done to 1) straighten the long and ring fingers (clinodactyly deformity) 2) straighten the thumb (fusion of the thumb IP joint) and 3 deepen the thumb- index web space.  Surgery was successful in meeting these goals.  Below are pictures immediately after surgery.
Clinodactyly correction in Carpenters syndrome.  The finger alignment is markedly improved but there is still some deviation in the long finger.


Lateral xray (side view) showing improved alignment after clinodactyly correction in Carpenters Syndrome

Clinical photograph after surgery focusing on the deepened web space.

View from palm after Carpenter's syndrome correction.

Demonstration of straighter fingers after clinodactyly correction in Carpenters Syndrome.


No comments:

Post a Comment