Braun H S, Benes P, Höhle B
Cas Lek Cesk. 1989 Aug 4;128(32):1017-8.
Höhle and Braun described a new form of hereditary metaphyseal dysplasia. It is characterized by changes in distal metaphyses of femoral bones which are formed as Erlenmeyer flasks, further by club-shaped dysplasias of the metaphyses of the other long bones, absence of skeletal hyperostosis and by characteristic varus-deformations of radial bones. An extensive family history research showed that the oldest carriers of these anomalies came from a small town in northern Bohemia. Completely identical case reports were published describing the carriers of metaphyseal dysplasia characters whose origin was also traced to the same region. The authors aim at drawing attention to this new disease, finding more carriers of metaphyseal dysplasia characters and at giving an impulse to an extensive research into this extremely systemic rare bone disease.
赫勒和布劳恩描述了一种新型遗传性干骺端发育异常。其特征为股骨远端干骺端呈烧瓶状改变，其他长骨干骺端呈杵状发育异常，无骨骼骨质增生，以及桡骨特征性内翻畸形。广泛的家族史研究表明，这些异常的最早携带者来自波希米亚北部的一个小镇。已发表了完全相同的病例报告，描述了干骺端发育异常特征的携带者，其起源也追溯到同一地区。作者旨在引起对这种新疾病的关注，找到更多干骺端发育异常特征的携带者，并推动对这种极其罕见的全身性骨病进行广泛研究。
