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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Reproductive options for families at risk of Osteogenesis Imperfecta: a review

Fig. 1

OI clinical and genetic heterogeneity. OI clinical variability ranges from mild non-deforming OI to severe and lethal OI forms. Genetic diversity of the disorder is characterised by OI pathogenic variants in more than 22 different genes. Autosomal dominant (AD), autosomal recessive (AR) and X-linked recessive (XLR) inheritance patterns were observed among OI families. A – Autosomal chromosome; OI – Osteogenesis Imperfecta; X – X chromosome; Y – Y chromosome

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