Description
At the age 2 years, her grandmother found that she was prone to fractures. Since age two years she fractured her right clavicle, her left clavicle, her left humerus (three times), her right arm, her left leg (twice). Her last fracture was in her left leg two months ago. She also has recurring lung infections. Now she cannot walk and has a difficult time just standing.
Symptoms / Signs
- Deformities in her leg, clavicles, and left arm. Thoracic scoliosis with left concavity, curved right hemithora, muscle atrophy, and flat feet.
Current Treatments
- Calcium and Vitamin D
Prior Treatments
- Unknown
Considered treatments
- Calcium and Vitamin D
Previously Considered Diagnoses
- Osteogenesis imperfecta
Genetic Variants of Interest
- COL1A1 and COL1A2 genes testing. WES, if negative.
Siblings, age & gender
Two unaffected brothers (7 and 9 years)
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Fatoumata is a 5-year-old girl born in Macina, Mali. She is very quiet girl and likes playing electronic games. She loves her grandma with whom she is staying.
