Fatoumata

Fatoumata is undiagnosed
Fatoumata is undiagnosed
Date of Report

Fatoumata

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).

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.


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