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Pathophys and Cause ⬇

Cause:Genetic

Pathophys:Several varieties of genetic defect in collagen matrix (Nejm 2010;362:521)

Epidemiology ⬆ ⬇

Prevalence 1/20000

Signs and Symptoms ⬆ ⬇

Si:Blue sclerae (picture—Nejm 1998;339:966), deaf, double jointed, cardiac valve degeneration (Nejm 1993;329:1406); fractures decrease with puberty, increase with menopause (Nejm 1984;310:1694)

Treatment ⬆

Rx:

Pamindonate 7 mg/kg iv q 6 mo (Nejm 1998;339:947) or other bisphosphonates, increase Z score and decrease fx over 5 yr (Medicine 1997;76:266–283); can lead to hypocalcemia and slow healing (Arch Dis Child 2005;90[5]:494-499); no long-term studies determining safety