Definition
Spondyloepiphyseal dysplasia congenita is a rare skeletal dysplasia characterized by short stature, platyspondyly, and myopia.
Symptoms
- Short stature
- Platyspondylosis
- Myopia
- Cleft palate
Reasons
COL2A1 gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Orthopedic treatment.
Which Polyclinic Should You Apply To?
Orthopedic Polyclinic
What to Do in an Emergency?
In case of respiratory distress, emergency services should be consulted.
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