Center for the Study of Genetic Skeletal Disorders | Unexplained Childhood Fractures

Fractures are common occurrences in children. Most often fractures result from accidental trauma, such as falling off a bike or sustaining an injury while playing sports. Another cause of fractures is non-accidental trauma, as may occur in cases of child abuse. Some children are prone to fractures following mild trauma. In many cases a genetic cause may be the explanation a child's increased susceptibility to fracture. Among these genetic causes may be Osteogenesis Imperfecta and Juvenile Osteoporosis.

We are interested in identifying the causes of unexplained fractures or fractures occurring following mild trauma during childhood. We would like to know whether these children and young adults have milder mutations in known Osteogenesis Imperfecta or Juvenile Osteoporosis, or whether we can identify new fracture predisposing genes in these individuals.

Identifying genetic causes of unexplained childhood fractures and finding better ways to prevent or reduce the incidence of new fractures are important goals.

Among the questions we want to answer are:

1.  Do children with unexplained fractures have signs or symptoms that suggest an underlying genetic predisposition to fracture?
2. What genes may be altered in children who have a genetic predispositions to fracture?
3. Are there specific types of medical interventions that can reduce the risk of fracture in these children?

Interested in participating?

We welcome individuals and families who have unexplained fractures or fractures that occur following only mild trauma to participate in our research by contacting us.

To better understand the genetic causes of unexplained fractures we are collecting blood samples from patients and their relatives.

To better understand whether we can find markers of skeletal fragility in affected tissue, we are seeking skin and bone that may be recovered from patients with unexplained fractures at the time of a diagnostic or medically-indicated procedure.

These studies may help further understand factors that can predispose to skeletal fracture during childhood and to develop new therapeutic strategies.

Physicians seeking assistance in identifying causes of unexplained fractures in their patients are also welcome to contact us.