J Korean Med Sci.  2006 Aug;21(4):709-714. 10.3346/jkms.2006.21.4.709.

Clinical and Radiological Manifestations of Osteogenesis Imperfecta Type V

• Lee DY
• Cho TJ
• Choi IH
• Chung CY
• Yoo WJ
• Kim JH
• Park YK

• KMID: 2157825
• DOI: http://doi.org/10.3346/jkms.2006.21.4.709

Abstract

We reviewed clinical manifestation of 12 patients from three Korean families. They showed mild to moderate bone fragility, and suggested an autosomal dominant inheritance pattern. Significant intrafamilial phenotype variability was obvious. Clinical, radiological, and histopathologic characteristics that distinguished this subtype from others include ossification of interosseous membrane of the forearm with radial head dislocation, hyperplastic callus formation, no evidence of type I collagenopathy and an abnormal histopathologic pattern. Severity of the interosseous membrane ossification was correlated with increasing age (p<0.01) and the radial head dislocation was thought to be a developmental problem rather than a congenital problem. Four children who had bisphosphonate treatment showed improved bone mineral density, radiological changes, and biochemical responses. Osteogenesis imperfecta type V was a distinctive subtype of osteogenesis imperfecta, which caused mild to moderate disability clinically.

Keyword

Osteogenesis Imperfecta; Dislocations; Radial Head Dislocation; Ossification, Heterotopic; In-terosseous Membrane Ossification

MeSH Terms

Range of Motion, Articular
Pedigree
Osteogenesis Imperfecta/genetics/*pathology/physiopathology
Middle Aged
Male
Infant
Humans
Fractures, Bone/radiography
Female
Family Health
Dislocations/radiography
Child, Preschool
Child
Bone and Bones/abnormalities/*radiography
Aged
Adult

Figure

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  Fig. 1 Pedigrees of osteogenesis imperfecta type V families. (A) The family of cases 2 and 3. (B) The family of cases 4-12.

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  Fig. 2 Ossification of interosseous membrane of the forearm. (A) Grade I; (B) Grade II; and (C) Grade III.

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  Fig. 3 Development of the radial head dislocation. (A) The radial head is in situ at age 9 months. (B) Radiograph at age 28 months shows dislocated radial head (Case 1).

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  Fig. 4 Hypertrophic callus formation six weeks after femoral shaft fracture at age 9 month (A). A radiograph taken 1.5 yr later shows remodeling of the callus (B). Note the multiple white bands parallel to the physis formed by cyclic intravenous pamidronate and the juxtaphyseal metaphyseal white area which is one of the radiologic manifestations of OI type V (Case 1).

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  Fig. 5 Radiographic abnormalities other than the elbow and forearm. Heterotopic ossification around the hip joints and femur (A); ossification of the interosseous membrane of the lower leg (B); and right thoracic scoliosis with decompensated trunk-shift (C) (Case 2).

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  Fig. 6 Polarized light microscope histopathologic finding of a bone specimen from Case 3. Note the irregular, mesh-like lamellation pattern (Toluidine blue, ×200).

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