Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Area of Science:

• Pediatric Endocrinology
• Skeletal Dysplasias
• Growth and Development

Background:

• Osteogenesis Imperfecta (OI) is a genetic disorder characterized by brittle bones, leading to fractures, deformities, and short stature.
• Current understanding of growth parameters in large cohorts of individuals with OI is limited, hindering clinical evaluation.
• Systematic investigation of growth metrics in OI is essential for accurate patient management and monitoring.

Purpose of the Study:

• To systematically investigate and compare height, growth velocity, weight, and body mass index (BMI) in a large cohort of individuals with Osteogenesis Imperfecta (OI).
• To establish median z-scores for key growth parameters in children with different types of OI.
• To identify factors influencing height z-scores in individuals with OI.

Main Methods:

• Utilized data from 552 individuals with OI from the Linked Clinical Research Centers.
• Compared height, growth velocity, weight, and BMI against Centers for Disease Control and Prevention (CDC) normative curves.
• Employed generalized linear model analyses to determine correlations with height z-score.

Main Results:

• Children with OI types I, III, and IV exhibited median height z-scores of -0.66, -6.91, and -2.79, respectively.
• Diminished growth velocity was observed in OI types III and IV, with a median weight z-score of -4.55 for OI type III.
• Height z-score positively correlated with OI subtype severity, age, bisphosphonate use, and rodding.

Conclusions:

• Provides the largest cohort data to date for median height, weight, and BMI z-scores in individuals with OI.
• These values can assist clinicians in assessing overall growth in patients with OI.
• This study represents a foundational step towards developing OI-specific growth curves.