An unusual presentation of osteogenesis imperfecta type I

Figures & data

Table 1 Classification of osteogenesis imperfecta (modification of the original Sillence classification:^1–4)

Type	Inheritance pattern	Clinical features	Mutations usually associated
I	AD	Normal or mild short stature; blue sclera; no dentinogenesis imperfecta.	Premature termination codons in COL1A1
II	AD	Multiple rib fractures at birth; pronounced deformities; broad long bones; low density skull bones; dark sclera. Lethal form.	Glycine substitutions in COL1A1 or COL1A2
III	AD	Very short, triangular face; severe scoliosis, greyish sclera; dentinogenesis imperfecta.	Glycine substitutions in COL1A1 and COL1A2
IV	AD	Moderately short; mild to moderate scoliosis; greyish or white sclera; dentinogenesis imperfecta.	Glycine substitutions in COL1A1 and COL1A2
V	AD^Citation2,Citation3	Mild to moderate short stature; dislocation radia head; mineralized interosseous membrane; hyperplastic callus; white sclera; no dentinogenesis imperfecta.	Unknown
VI	AR^Citation2,Citation4	Moderately short; scoliosis; accumulation of osteoid in the bone tissue, fish-scale pattern bone lamellation; white sclera; no dentinogenesis imperfecta.	Unknown
VII	AR^Citation1,Citation3	Severe osteoporosis with rhizomelia, neonatal fractures, short humeri and femora, gracile ribs, white sclera.	Mutations in CRTAP
VIII	AR^Citation1,Citation3	Rhizomelia and severe undertubulation of the long bones. In utero fractures. Ribs with no or few fractures. White sclera. No dentinogenesis imperfecta.	Mutations in LEPRE1

Abbreviations: AD, Autosomal Dominant; AR, Autosomal Recessive

Figure 1 Blue sclera.

Figure 2 Lumbar spine X-ray (A) and computed tomography scan (B, sagittal view and C, axial view) of the spine showing diffuse low bone density.

Figure 3 Bone scintigraphy (A, anterior view, B, posterior view) showing increased uptake in the 7th, 8th and 9th right ribs (arrows).

Table 2 Dual-energy X-ray absorptiometry results revealing an increase of bone mineral density (BMD) of the lumbar spine in the 3 years after treatment with alendronate

Region:	2007			2010
	BMD (g/cm^2)	T score	Z Score	BMD (g/cm^2)	T score	Z score
L1	0.427	−4.5	−4.5	0.616	−2.1	−2.0
L2	0.580	−4.1	−4.0	0.476	−2.2	−2.2
L3	0.692	−3.6	−3.5	0.858	−1.6	−1.5
L4	0.657	−4.2	−4.1	0.715	−1.9	−1.8
Total	0.596	−4.1	−4.0	0.461	−2.3	−2.2

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