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Hemorrhagic Diathesis in van der Hoeve's Syndrome

Yasukuki Endo, MD; Shigeo Mamiya, MD; Hidetaka Niitsu, MD
Arch Intern Med. 1984;144(9):1889-1893. doi:10.1001/archinte.1984.00350210219051.
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To the Editor.  —The main symptoms in van der Hoeve's syndrome, a disease of simple dominant inheritance, are blue scleras, osteogenesis imperfecta, and otosclerotic deafness,1 but the literature contains almost no reference to the hemorrhagic disposition associated with this condition. We recently had a chance to study the hemostatic system in a patient with hemorrhagic diathesis.

Report of a Case.  —A 28-year-old woman had 15 occurrences of bone fracture and reported that hemostasis had presented difficulties on each occasion. She was seen because of purpuric episodes. The patient's height was 147 cm and her weight was 38 kg. The specialists all agreed in their diagnosis of blue scleras, osteogenesis imperfecta, and conductive deafness. Hemorrhagic diathesis was observed in the form of a large number of purple spots in the lower limbs, but no internal hemorrhage was detected in the joints or muscles. Although there was no consanguinity, hemorrhagic diathesis


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