Pediatric Osteoporosis Clinical Presentation

Updated: May 25, 2016
  • Author: Manasa Mantravadi, MD, MS; Chief Editor: Jatinder Bhatia, MBBS, FAAP  more...
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Presentation

History

Patients with low bone mineral density for age may be asymptomatic or may present with bone pain. Many will have had fractures or imaging studies (usually x-rays or DXA studies) suggestive of demineralization or failure to accrue normal bone. Some will have a history that suggests an underlying genetic or other condition. Peripubertal children with idiopathic juvenile osteoporosis often experience a gradual onset of pain, primarily in the lower body (eg, hips, ankles, knees, feet), manifested by discomfort when walking.

Fractures are common in healthy youth. By 16 years of age, nearly one-half of boys and one-third of girls have sustained a fracture. The clinical challenge remains in identifying those children with skeletal pathology associated with their fracture. The first step in ascertaining this is questioning about the mechanism and site of the fracture.  In pediatrics, hip, femur, and vertebral fractures are rare and fractures that take place after minimal trauma may be concerningTaken together, a history of axial skeletal fractures or multiple fractures from low biomechanical force may be indicators of skeletal fragility and should raise concern for osteoporosis. [22]

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Physical Examination

Often the general exam of a child with osteoporosis can be normal.  Some children will have joint hyper- or hypo-mobility.  Children with spine disease may present with spinal deformities (eg, kyphosis, kyphoscoliosis), with short stature and/or a shortened upper to lower segment ratio. Pectus deformities (both carinatum and excavatum) can also be present.  More severe forms of metabolic bone disease can present with long bone deformities. Limping or splinting due to pain may also be observed.

In genetic forms of primary osteoporosis, such as Osteogenesis imperfecta, additional exam findings can include characteristic facial features, blue sclerae, dentinogenesis imperfecta, and hypermobility.

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