guidebook. - Fanconi Anemia Research Fund

Chapter 5
Hand and Arm Differences in FA
Scott H. Kozin, MD
Introduction
Children with Fanconi anemia often have upper
extremity anomalies (a.k.a. differences). Approximately
50% of FA children have skeletal anomalies, and about
70% of these are upper extremity anomalies. The most
common problems affect the thumb and radial border
of the forearm. This section will describe the upper
extremity problems in children with FA, including
diagnosis, management, and outcome. The specific
treatment rendered must be individualized to each child
and family. The decision process is multi-factorial and
requires participation from the family, physician, and
physical therapist.
Initial Evaluation
Early referral (within the first few months) to an upper
extremity specialist is recommended for children with
congenital limb differences. The evaluating physician
should be comfortable with and proficient in the diagnosis
and management of congenital limb differences.
These qualities especially are important for FA children
who require coordinated care among multiple specialists.
Many physicians who care for adult limb problems
are not comfortable treating children. Referral to an
orthopedic hand surgeon specializing in pediatrics, with
a Certificate of Added Qualification in Hand Surgery, is
recommended.