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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
- Sine qua non of OI is generalized osteoporosis of both the axial and appendicular skeleton.
- Milder forms of OI result in thin, overtubulated bones with thin cortices, and relatively few fractures. The short tubular bones are also affected, though they are less frequently fractured.
- More severe forms of OI, such as in types II and III, feature thickened, shortened long bones with multiple fractures; these forms are often complicated by hyperplastic callus formation.
- Radiographs of the skull may reveal normal skull development in milder forms of disease. With increasing disease severity, the skull demonstrates poor mineralization and multiple wormian, or intrasutural, bones.
- The chest may be small. Multiple rib fractures are often found; these can cause the ribs to become broad and deformed.
- Spinal abnormalities in all subtypes include basilar invagination, platyspondyly, and scoliosis.
Patient #1
Patient#2
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Limbs | hip: Dislocation of hip/ Hip dysplasia - Upington disease
feet (Club foot, Flat feet, Pes cavus)
systemic dislocations Larsen syndrome
head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis - chest (Pectus excavatum, Pectus carinatum)
any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome
dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism
reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia)
upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome)
knee (Genu valgum, Genu varum)
other Arthrogryposis |
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Skull and facial bones | |
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Spine and bony thorax | |
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Osteochondrodysplasia | |
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Other | |
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