Table 1. [Clinical Features of COL1A1/2 Osteogenesis Imperfecta by Type]. - GeneReviews®

Type	MOI	Severity	Fractures	Bone Deformity	Stature	DI	Sclerae	Hearing Loss
Classic non-deforming OI w/blue sclerae	AD	Mild	Few to 100	Uncommon	Normal or slightly short for family	Rare	Blue	Present in ~50%
Perinatally lethal OI	AD	Perinatal lethal	Multiple fracture of ribs, minimal calvarial mineralization, platyspondyly, marked compression of long bones	Severe	Severely short	+	Dark blue	—
Progressively deforming OI	AD	Severe	Thin ribs, platyspondyly, thin gracile bones w/many fractures, "popcorn" epiphyses common	Moderate to severe	Very short	+	Blue	Frequent
Common variable OI w/normal sclerae	AD	Moderate to mild	Multiple	Mild to moderate	Variably short	+/–	Normal to gray	Some

From: COL1A1/2 Osteogenesis Imperfecta

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