A popular cable reality television show, Little People, Big World, focuses on the daily lives of short stature individuals. This series bring achondroplasia, the most common form of dwarfism, into the spotlight. According to a literature review published in the April 2009 issue of the Journal of the American Academy of Orthopaedic Surgeons (JAAOS), treating patients with dwarfism is an extremely complex process. Orthopaedic surgeons and others caring for people with this disorder should be aware of its many manifestations.
For example, limb lengthening treatments for those living with achondroplasia have been met with mixed results.
"Not only is limb lengthening a huge time commitment for the families involved, but children with achondroplasia are taken out of the environment where they play, interact and have fun to be placed in treatment for several years," said study co-author Michael C. Ain, MD, associate professor, Department of Orthopaedic Surgery and Neurosurgery, Johns Hopkins Hospital, Baltimore, Maryland. "At the end of the day, these kids may be able to reach a higher shelf, but their level of physical activity in both athletic and sporting events may be very limited or not existent at all."
The authors also found that early diagnosis and treatment of the manifestations of achondroplasia, sometimes even before they become symptomatic, may produce better outcomes for patients later in life. For example, some patients with achondroplasia have:
Symptoms of stenosis of the foramen magnum usually present itself in the first two years of life, but may not appear until later, when developmental delays become apparent. Therefore, the American Academy of Pediatrics recommends that all infants with achondroplasia be screened via computed tomography (CT) scan or magnetic resonance imaging (MRI), so that this condition can be treated surgically before it causes further medical problems.
"With so many medical specialties involved, each needs to be aware of all of the symptoms of achondroplasia," stated study co-author Eric D. Shirley, MD, lieutenant commander, Medical Corps, United States Navy, and attending pediatric orthopaedic surgeon, Naval Medical Center Portsmouth, Portsmouth, VA. "Many of these conditions are interrelated."
Similarly, many children with achondroplasia may also develop thoracolumbar kyphosis.
"Quality of life is an important issue for people with achondroplasia," Shirley says. "This is why early and comprehensive treatment is so important."
Background on achondroplasia:
Disclosure: The authors did not receive any outside funding or grants in support of their research for or preparation of this work. Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, division, center, clinical practice, or other charitable or nonprofit organization with which the authors, or a member of their immediate families, are affiliated or associated.
Materials provided by American Academy of Orthopaedic Surgeons. Note: Content may be edited for style and length.
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