your limit has been reached. plz Donate us to allow your ip full access, Email: sshnevis@outlook.com

Radiographic findings of osteogenesis imperfecta (OI) by type

Type (MIM#)	Bone deformity	Skull	Back	Extremities	Other
Defects in collagen synthesis, structure, and assembly
I (#166200)	Nondeforming	Wormian bones	Vertebral wedging (adults)	Thin cortices	Osteopenia
II (IIA – #166210, IIB – #610854)	Severe	Minimal cranial mineralization Plaques of calcification	Platyspondyly (vertebral compression)	Severely deformed Compressed femurs Marked long-bone malformation	Small beaded ribs are pathognomonic of IIA Pectus excavatum (IIB)
III (#259420)	Severe	Wormian bones Frontal bossing Micrognathia	Vertebral wedging Kyphoscoliosis Platyspondyly	Flared metaphyses ("popcorn-like" appearance [childhood]) Bowing, thin cortices	Thin ribs Severe osteoporosis by DXA
IV (#166220)	Mild to moderate	Wormian bones may be present	Vertebral wedging	Thin cortices	Protrusio acetabuli
Histologically distinct defects in bone mineralization
V (#610967)	Moderate	Relative macrocephaly Wormian bones	Mild to moderate scoliosis	Hypertrophic callus, usually of the femurs Mineralization of the interosseous membrane in the forearm Radio-opaque metaphyseal bands adjacent to growth-plates	Severe osteoporosis by DXA
VI (#613982)	Moderate	Wormian bones	Compression fractures Scoliosis	Similar to OI type IV Bulbous metaphyses	Severe osteoporosis by DXA Coxa vara Protrusio acetabuli Fish-scale pattern of bone lamellation
Collagen-folding protein abnormalities in prolyl-3-hydroxylation complex
VII (#610682)	Moderate	Often small head circumference Wormian bones	Severe scoliosis	Could be similar to OI type IV Short long bones	Rhizomelic shortening Osteopenia Coxa vara
VIII (#610915)	Severe	Open sutures Normal to small head circumference	Severe scoliosis Could be similar to OI type II/III	Undertubulated long bones Popcorn calcifications Bulbous metaphyses	Severe osteoporosis by DXA Extreme skeletal undermineralization Thin ribs Barrel-shaped chest Rhizomelia
IX (#259440)	Moderate to severe	Wormian bones	Kyphoscoliosis May not have compression fractures Range of skeletal features similar to OI type II/III/IV	Short, bowed limbs	Pectus carinatum Pectus excavatum Moderate to severe osteoporosis by DXA
Collagen-processing and cross-linking defects
X (#613848)	Severe	Macrocephaly Wormian bones Triangular face Undermineralized skull	Scoliosis Compression fractures Platyspondyly	Multiple bone deformities Coxa valga Short, bowed femurs antenatally	Osteopenia
XI (#610968)	Severe	Wormian bones Triangular face	Kyphoscoliosis	Congenital large joint contractures Short, bowed limbs	Osteopenia
XII (#613849)	Severe	Prominent forehead	Scoliosis Platyspondyly	Undertubulated long bones with thick cortices Bowing of long bones Valgus deformity	Generalized osteopenia High bone mass despite recurrent fractures High bone turnover
Osteoblast lineage abnormality
XIII (#614856)	Moderate to severe	Prominent forehead Wormian bones Triangular face Small mouth High-arched palate	Scoliosis Compression fractures	Multiple bone deformities Short, bowed limbs	Impaired mineralization in some
XIV (#615066)	Moderate to severe	Frontal bossing	Compression fractures	Bone deformities	Generalized osteopenia
XV (#615220)	Moderate to severe	Decreased or absent calvarial mineralization	Multiple vertebral compression fractures Platyspondyly Significant risk of scoliosis	Severe long bone deformities with angulations Shortening of lower and upper extremities	Generalized osteopenia (heterozygous carriers)
XVI (#616229)	Severe	Decreased skull ossification (soft calvarium) Wormian bones	Vertebral compression deformities with decreased bone density	Long-bone fractures with deformities and angulations	Osteopenia Thin, beaded ribs
XVII (#616507)	Severe	Wormian bones	High risk of scoliosis	Bowing deformities	Significant risk of neuromuscular weakness
Newer forms of OI
XVIII (#617952)	Severe	Wormian bones	Vertebral fractures	Bowing of long bones	Severe short stature and fractures
XIX (#301014)	Severe	Wormian bones	Scoliosis	Bowing deformities	Osteopenia
XX (#618644)	Severe	Microcephaly Wormian bones	Kyphoscoliosis Vertebral fractures	Shortened and bowed long bones	Osteopenia Bony deformities Healed fractures
XXI (#609024)	Moderate to severe, progressive	Wormian bones	Scoliosis Vertebral fractures	Bowing deformities Bowing of long bones	Osteopenia
XXII (#619795)	Moderate to severe	Wormian bones Decreased skull ossification	Scoliosis	Bowing of long bones	Bone fragility

Other clinical features of OI are covered separately (refer to companion UpToDate table of clinical features).

DXA: dual-energy x-ray absorptiometry.

Data from:

Steiner RD, Pepin MG, Byers PH. Osteogenesis Imperfecta. GeneReviews at GeneTests: Medical Genetics Information Resource, January 2005.
Balasubramanian M. Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta. Colloquium Series on Genomic and Molecular Medicine, Kumar D (Ed), Morgan & Claypool Publishers 2017.

Graphic 73256 Version 11.0