PMC5683792_01
Family tree of the patient with OI type XI.. Abbreviation: OI, osteogenesis imperfecta.
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Figure 1 shows the family tree of the patient. Tyr204X, which generated a stop codon in exon 4, as seen in Figures S1 and S2.
Anthropometric evolution of a patient with OI type III: (A) weight vs. age and (B) height vs. age. Growth charts were developed by Frank Rauch for patients with OI type III.. Abbreviation: OI, osteogenesis imperfecta.
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Figure 2A and B shows his anthropometric evolution until the age of 7. Tyr204X, which generated a stop codon in exon 4, as seen in Figures S1 and S2.
Physical examination of a patient with OI type III: (A) thorax and (B) lower limbs with hypotrophy and genu valgus.. Abbreviation: OI, osteogenesis imperfecta.
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The patient exhibited usual non-dysmorphic facies, without blue sclera or tooth involvement, asymmetric thorax with severe rotoscoliosis, and 60  kyphosis (Figure 3A). In addition, asymmetric limbs caused by the shortening of left lower limb, genu valgus, and hypotrophy were found, while no retractions, arthrogryposis, or pterygia (Figure 3B) was observed.
Paraclinical follow-up of a patient with OI type III: (A) values of 25-hydroxyvitamin D, (B) serum levels of parathyroid hormone, (C) levels of alkaline phosphatase, (D) levels of serum calcium, and (E) level of inorganic phosphorus in serum.. Abbreviations: OI, osteogenesis imperfecta; PTH, parathyroid hormone.
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The paraclinical follow-up is shown in Figure 4A-E.