Thanatophoric dysplasia can be recognized in utero via ultrasound. Indicators include markedly short limbs and a narrow thorax. After birth, physical and radiographic examination can provide a diagnosis. Molecular testing of the FGFR-3 gene can be done to confirm the diagnosis either prenatally via an amniocentesis sample or postnatally from a blood sample.
Patient Story
Orthopedics: Alex
Eight-year-old Alex is in constant motion. The difference in the length of his legs and wearing a built-up sneaker doesn’t slow him down one bit. His ...
How the Diagnosis is Made
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Trusted Resources
- American Academy of Orthopaedic Surgeons (AAOS)
- American College of Sports Medicine (ACSM)
- American Physical Therapy Association (APTA)
- March of Dimes
- National Youth Sports Safety Foundation (NYSSF)
- Scoliosis Research Society
- Spina Bifida Association of America (SBA)
- United Cerebral Palsy (UCP)
- The National Lymphedema Network