A probable new type of osteopenic bone disease.

Pediatr Radiol

Department of Orthopaedics, Huddinge University Hospital, 14186 Huddinge, Sweden.

Published: June 2002

A probable new type of osteopenic bone disease in two sisters and one female cousin is described. In infancy, the radiological findings were osteopenia, coxa vara, periosteal cloaking, bowing of the long bones, and flaring of the metaphyses. During growth, spinal pathology developed with compression of the vertebral bodies and scoliosis in one girl and kyphosis in another. All three children had genu valgum and two developed severe S-shaped bowing of the tibiae. Growth was stunted. Inheritance of this disorder is probably recessive. Type I and III collagen biosynthesis was normal. This condition is probably a hitherto undescribed form of osteogenesis imperfecta type III or a new bone disease.

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http://dx.doi.org/10.1007/s00247-001-0640-0DOI Listing

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