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Group of heritable disorders of collagen synthesis characterized by fragile bones

Autosomal dominant trait; mutation in protein that codes for pro-α1 and pro-α2 collagen chains, producing both qualitative and quantitative collagen defects

Type 1: blue sclera; in-utero fractures; mild-to-moderate bone fragility; kyphoscoliosis; hearing loss; premature arcus senilis; easy bruising; short stature

Type 2: abnormal dentition; blue sclera; small nose; micrognathia; connective tissue fragility; short trunk

Type 3: abnormal dentition; sclera of variable hue; in-utero fractures; limb shortening and progressive deformities; triangular facies with frontal bossing; pulmonary hypertension

Type 4: normal sclera; normal hearing; fractures beginning in infancy; mild angulation and shortening of long bones

Turner syndrome; Paget disease; osteopetrosis; camptomelic dysplasia; achondrogenesis type I; congenital...