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Multicenter Study
. 2019 Feb;21(2):275-283.
doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4.

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

Mahim Jain #  1   2 , Allison Tam #  1 , Jay R Shapiro  2 , Robert D Steiner  3   4 , Peter A Smith  5 , Michael B Bober  6 , Tracy Hart  7 , David Cuthbertson  8 , Jeff Krischer  8 , Mary Mullins  1 , Sunil Bellur  1 , Peter H Byers  9 , Melanie Pepin  9 , Michaela Durigova  10 , Francis H Glorieux  10 , Frank Rauch  10 , Brendan Lee  1   11 , V Reid Sutton #  1   11 ; , Members of the Brittle Bone Disorders Consortium*,; Sandesh C S Nagamani #  12   13
Collaborators, Affiliations
Multicenter Study

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

Mahim Jain et al. Genet Med. 2019 Feb.

Abstract

Purpose: Osteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.

Methods: Using data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves.

Results: In children, the median z-scores for height in OI types I, III, and IV were -0.66, -6.91, and -2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was -4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P < 0.001), age, bisphosphonate use, and rodding (P < 0.05).

Conclusion: From the largest cohort of individuals with OI, we provide median values for height, weight, and BMI z-scores that can aid the evaluation of overall growth in the clinic setting. This study is an important first step in the generation of OI-specific growth curves.

Keywords: Growth; Height; Natural history study; Osteogenesis imperfecta; Weight.

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Figures

Figure 1
Figure 1. Height Z-scores in OI
Box plots showing the median and the IQR for height Z-scores in the various age groups in type I collagen-related OI demonstrate significantly lower Z-scores in individuals with OI type III and type IV as compared to OI type I. The number of participants in types V, VI, and VII were limited and the pooled data have been represented.
Figure 2
Figure 2
Cross sectional height measurements for participants in the cohort plotted on the CDC growth curves. Each circle represents one participant. Open circles represent individuals who were naïve to bisphosphonate treatment while black circles represent individuals who have received bisphosphonate at some point in their life.
Figure 3
Figure 3
Cross sectional weight measurements for participants in the cohort plotted on the CDC growth curves. Each circle represents one participant. Open circles represent individuals who have naïve to bisphosphonate treatment while black circles represent individuals who have received bisphosphonate at some point in their life.
Figure 4
Figure 4
Cross sectional BMI for participants in the cohort plotted on the CDC growth curves. Open circles represent individuals who were naïve to bisphosphonate treatment while black circles represent individuals who have received bisphosphonate at some point in their life.
See this image and copyright information in PMC

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