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Skeletal Dysplasia

What is skeletal dysplasia?

Skeletal dysplasia is the medical term for what many of us know as dwarfism. Those born with such a condition prefer a simpler phrase: "little people."

How is skeletal dysplasia diagnosed?

Typically skeletal dysplasia is discovered by the child’s parents or pediatrician as the child’s head grows out of proportion to the body and limbs. Depending on your child’s age (during the first year of life), your pediatrician will probably order a series of X-rays and possibly at CT scan and refer you to a pediatric neurosurgeon or orthopedist. Sometimes an ultrasound of the brain is also required.

If your child is older than six months, an MRI will probably be ordered, as better images of the brain and spinal cord can be made at that time through MRI.

  1. Your doctor will conduct a thorough physical and will ask for a detailed family and patient history.
  2. Your doctor may order further imaging of the brain and/or spine through ultrasound, CT, MRI or X-rays.
  3. Depending on the results of the imaging studies, your doctor will make a determination about the course of treatment. Often other factors come in to play including:
    • Symptoms
    • Eye exams
    • Changes in level of activity or school performance.
    • Repeated imaging studies to look for changes in the brain and/or spine

Treatment for skeletal dysplasia

The Johns Hopkins difference involves multiple specialties in reviewing the cases of children with skeletal dysplasia. Neurosurgeons, neurologists, pediatric orthopedists pediatric ophthalmologists, radiologists, geneticists, pulmonologists, among others, join together to develop the treatment plan. The team will decide when and if surgery is the best option.

Surgical treatment options

Treatment options revolve around a diagnosis of:

For Stenosis and spinal instability: Depending on the region, cervical or lumbar, the pediatric neurosurgeon will remove the bone(s) that are constricting the spinal cord or brain stem. Working in conjunction with Hopkins orthopedic surgeons, the patient’s spinal column is supported with metal rods. This is referred to as instrumentation and fusion.

For hydrocephalus: Learn more about treatment for hydrocephalus.

After Surgery

Follow-up care is extremely important in tracking the progress of a child’s recovery. Your pediatric neurosurgeon will schedule follow-up appointments to make sure your child is making a full recovery.

To request a consultation or make an appointment, please contact Johns Hopkins Pediatric Neurosurgery at 410-955-7337.

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Pediatric Neurosurgery: 410-955-7337


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