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. 2011 Oct 12;2(1):1–20. doi: 10.1159/000332228

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Copyright © 2011 by S. Karger AG, Basel

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Fig. 6 — A Clinical pictures of a patient with OI type III. a–c White sclerae, severe kyphoscoliosis with thoracal deformation, severe shortening and bowing of arms and legs. Clinical synopsis: a 10-year-old Iranian girl was born with fractures of the humerus and the tibia. According to the parents, their daughter has had about 100 fractures up to now. Her length is 88 cm (<<−3 SD; 0 SD for a 2-year-old child), weight is 13 kg (0.5 SD (weight for length)) and her head circumference is 49 cm (+2 SD (HC for age)). She has white sclerae. DI was apparent. The skin was soft. Cognition was normal. Molecular analysis of the COL1A1/2 genes is currently being performed. B Radiographs of a patient with OI type III. a The skull shows normal mineralization. The spinal column shows normal development and no fractures. The ribs are slender without fractures. No fractures of humeri, radii and ulnae are visible. Multiple fractures of femora with loss of modeling (arrow) can be observed in combination with fracture and bowing of right tibia (arrowhead). b Wormian bones (see inset), broad skull. c At the age of 5 years, radiographs of the lower extremities show osteopenia and multiple fractures for which surgical intervention, using intramedullary rods, has been performed. No popcorn epiphyses are observed. Multiple growth acceleration lines are visible due to intravenous biphosphonate treatment and calcium suppletion (arrow). d Radiograph of the left arm shows normal epiphyses, with a broad metaphysis of the distal humerus. Note mid-diaphyseal fractures of the radius and ulna. Dislocation of the radial head is observed. e AP Spine shows platypondyly and scoliosis. Clinical synopsis: In the first pregnancy, abnormalities of the extremities were observed in the fetus at 23 weeks of gestation. At the 24th week of gestation, short upper and lower extremities were observed indicative of a severe skeletal dysplasia. At a gestation of 40+4 weeks, a Caucasian boy was born. He had a round face with shallow orbits, greyish sclerae, small thorax, rhizomelic shortening of the upper and lower extremities, abducted position of the legs, and normocephaly. A skeletal overview showed multiple fractures suggestive of OI type II-B/III. The child is alive at the age of 4 years with a current diagnosis of OI type III due to a homozygous CRTAP mutation (intron 1, c.471+2C>A) [van Dijk et al., 2009a].

Fig. 6 — A Clinical pictures of a patient with OI type III. a–c White sclerae, severe kyphoscoliosis with thoracal deformation, severe shortening and bowing of arms and legs. Clinical synopsis: a 10-year-old Iranian girl was born with fractures of the humerus and the tibia. According to the parents, their daughter has had about 100 fractures up to now. Her length is 88 cm (<<−3 SD; 0 SD for a 2-year-old child), weight is 13 kg (0.5 SD (weight for length)) and her head circumference is 49 cm (+2 SD (HC for age)). She has white sclerae. DI was apparent. The skin was soft. Cognition was normal. Molecular analysis of the COL1A1/2 genes is currently being performed. B Radiographs of a patient with OI type III. a The skull shows normal mineralization. The spinal column shows normal development and no fractures. The ribs are slender without fractures. No fractures of humeri, radii and ulnae are visible. Multiple fractures of femora with loss of modeling (arrow) can be observed in combination with fracture and bowing of right tibia (arrowhead). b Wormian bones (see inset), broad skull. c At the age of 5 years, radiographs of the lower extremities show osteopenia and multiple fractures for which surgical intervention, using intramedullary rods, has been performed. No popcorn epiphyses are observed. Multiple growth acceleration lines are visible due to intravenous biphosphonate treatment and calcium suppletion (arrow). d Radiograph of the left arm shows normal epiphyses, with a broad metaphysis of the distal humerus. Note mid-diaphyseal fractures of the radius and ulna. Dislocation of the radial head is observed. e AP Spine shows platypondyly and scoliosis. Clinical synopsis: In the first pregnancy, abnormalities of the extremities were observed in the fetus at 23 weeks of gestation. At the 24th week of gestation, short upper and lower extremities were observed indicative of a severe skeletal dysplasia. At a gestation of 40+4 weeks, a Caucasian boy was born. He had a round face with shallow orbits, greyish sclerae, small thorax, rhizomelic shortening of the upper and lower extremities, abducted position of the legs, and normocephaly. A skeletal overview showed multiple fractures suggestive of OI type II-B/III. The child is alive at the age of 4 years with a current diagnosis of OI type III due to a homozygous CRTAP mutation (intron 1, c.471+2C>A) [van Dijk et al., 2009a].