Dwarfism Approach


 

ACHONDROPLASIA

My approach to achondroplasia takes into account what is the most common problem and the reason for disability later in life. These patients often suffer from the impact of spinal stenosis. This is taken into consideration beginning at infancy. From the avoidance of having an achondroplastic infant sitting upright to prevent kyphosis (round back), to the evaluation of sleep apnea in infancy to determine if there is a need for ear, nose and throat work to neurosurgical work to decompress the foramen magnum (open the area at the base of the brain where the spinal cord exits from the skull). These early interventions will have an impact on the achondroplastic individual’s life forever. Yearly, asking questions that are related is very important to determine if treatment is needed. This extends into adulthood.


This approach then morphs into the need of the patients as they get older.  Being certain their legs are straight to avoid later arthritis and discussing the possibility of stature lengthening. Determining the desire for this with the patient and the family is important. I rely on the patient and family to decide, after they are made aware of the projected height and the risks and benefits of limb lengthening.  


Lastly, this approach requires the expertise of multiple different types of healthcare professionals.  Subspecialist physicians, physical therapists, occupational therapists and child life specialists all play a major role in the outcome for the patient. In many places this is simply not available or not available enough. At the Paley Institute, we have all of this integrated into our program with additional patient care coordinators helping to navigate all the logistical issues in the uprooting of families for care.  There is even a residence (Quantum House) on the campus of the hospital, where families can reside and be supported in many ways.


PSEUDOACHONDROPLASIA

While pseudoachondroplasia is an uncommon condition, I have treated many children and adults with this form of skeletal dysplasia. I aggressively will maintain the alignment of the limbs.  This is done with judicial use of growth modulation and osteotomies (cutting of the bone) to maintain normal alignment.  


The spinal deformity is treated as any scoliosis/kyphosis but has many special considerations.

There are many treatments that are essential to maintain the best joint and limb health in pseudoachondroplasia.  


From physical therapy to strengthen muscles to using the child's growth to straighten the bone with minimal surgery to cutting the bone to straighten the limb to deepening the socket of the hip joint, each is used when needed. Limb lengthening with external devices or internal rods are reserved for those individuals who wish to have this procedure.


Spinal intervention is often necessary. This can range from physical therapy to neck and back spinal deformity correction.

While I do not encourage doing lengthening of the limbs, I do perform this surgery when patients want this at the same time deformity correction is performed.


Related Resources
Little Legs Big Heart
LPA
ALPE
I Want Your Kids To See Me
It's OK to Not Be OK
Understanding Dwarfism
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David S. Feldman, MD
901 45th Street, Kimmel Building
West Palm Beach, FL 33407
Phone: 561-762-3005
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