Participant 114

Participant 114

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).

Date of Report

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

F 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.


More pictures 

Sign up our Newsletter

Subscribe to our newsletter and you will be informed about our news and events

I read the privacy policy and I authorize UDNI - Undiagnosed Diseases Network International to process my personal data according to the information provided pursuant to art. 13 and 14 of Regulation (EU) 2016/679 of the European Parliament and of the Council