A 2-year-old boy is brought to accident and emergency for the sixth time and is found to have a right-sided non-displaced transverse fracture of his tibia.
His parents state that he was running in the living room and tripped landing on a toy truck. He has broken his other leg twice, several fingers and his right arm previously. He appears healthy, is well dressed and his growth is normal. His mother is very upset, she is 5 months pregnant with their second child and her anomaly scan yesterday suggested the baby has a broken leg.
What is the most likely explanation for these fractures? A. Osteogenesis imperfecta
B. Domestic violence and child abuse
E. Clumsy child
A Osteogenesis imperfecta (A), also known as brittle bone disease, is a collagen metabolism disorder which is typically autosomal dominantly inherited and has variable penetration where the most severe forms may
develop fractures in utero.
While risks for child abuse (B) should always be explored in any injury and repeated injuries are a worrying sign, this does not explain the fetus with a broken bone.
Osteopetrosis (C) is an autosomal recessive disorder of dense brittle bones associated with frequent fractures, failure to thrive, recurrent infections, hypocalcaemia and thrombocytopenia.
This is not the correct answer, as his growth is normal. Achondroplasia (D) results in short stature due to marked
shortening of the limbs but is not associated with fractures.
Stating that a child is clumsy (E) is not an adequate diagnosis to explain repeated injuries; either there is an underlying diagnosis as to why the child is so unsteady and injuring themselves repeatedly, or there is a bone abnormality or there is child abuse, all of which need to be investigated.