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Articles » Skeletal » Osteogenesis Imperfecta
2005-08-28-14 Osteogenesis imperfecta © Reuss
Osteogenesis imperfecta

Annette Reuss, MD, PhD

Praxis Central, Willy-Brandt-Platz 4, 45127 Essen Germany
Obstetric Department, University Medical Center Nijmegen, PO box 9100 6500HB Nijmegen, The Netherlands

This is a case of osteogenesis imperfecta in a fetus who demonstrated normal femur at 24 weeks. At 29 weeks of age, the fractured femur was noted. His father suffers from a mild form of osteogenesis imperfecta. He had his first fractures between 2-6years of age, his length is 160 cm at the age of 47 years, his sclerae are lightly blue and he can walk normally. He never considered his being small and brittle in the past being a risk for his offspring"s. The father and fetus were investigated and showed the same mutation.

Scan at 24 weeks: normal femur

Scan at 29 weeks: fractured femur seen.


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