Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

Table 2

Silence classification of osteogenesis imperfecta.

Type	Inheritance	Gene(s)	Phenotype
OI Type I	AD	COL1A1	Fractures, osteopenia, blue sclerae, severe hearing loss, dentinogenesis imperfecta in some
OI Type II	AD	COl1A1,; COL1A2	Multiple fractures, severe osteopenia and bone deformation, short stature, blue sclerae
OI Type III	AD/AR	COl1A1,; COL1A2	Triangular face, severe scoliosis, fractures, osteopenia and bone deformities, short stature, bleu sclerae, hearing loss, dentinogenesis imperfecta in some
OI Type IV	AD	COl1A1,; COL1A2	Fractures, osteopenia and bone deformities, hearing impairment, dentinogenesis imperfecta, short stature in some
OI Type V	AD	Unknown	Fractures, osteopenia and bone deformities, hearing impairment, dentinogenesis imperfecta, short stature in some, often luxation of head of radial bone
OI Type VI	?	FKBP10	Multiple fractures, osteopenia and bone deformities, hearing impairment, short stature in some, accumulation of osteoid in bone
OI Type VII	AR	CRTAP	Multiple fractures, osteopenia and bone deformation, blue sclerae, rhizomelia, coxa vara
OI Type VIII	AR	LEPRE1	Multiple fractures, severe osteopenia and bone deformation, short stature, blue sclerae in some

AD: autosomal dominant; AR: autosomal recessive. Characteristics which may be of value in discriminating the subtypes are marked in italics.