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首页> 外文期刊>American journal of medical genetics, Part A >Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl.
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Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl.

机译：Braun-Tinschert型干phy端发育不良：日本女孩的报告。

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摘要

We report on a 7-year-old Japanese girl with metaphyseal dysplasia (MD) of Braun-Tinschert type, a recently recognized, autosomal dominant sclerosing bone dysplasia. All individuals with the disorder from four families in the literature originated from a small town in Bohemia or its vicinity. The occurrence of the disorder in a Japanese girl indicates that it is not restricted to Germans. The radiographic hallmarks of the disorder include metaphyseal undermodeling (Erlenmeyer-flask deformity); osteosclerosis of the chondroosseous junctions, metaphyseal cortices, and epiphyseal margins; and exostosis-like bone excrescences at the metaphyseal-diaphyseal junctions. In the girl we described, the latter two findings were conspicuous at age 4 years, but became less prominent with increasing age. The metaphyseal trabeculae were somewhat coarse. The humeri exhibited varus deformity, and the ulnae and fibulae mild bowing. The mean bone mineral density of the lumbar spine was lower than that of age-matched controls. The patient exhibited premature loss of primary teeth, likely to be a sign of increased periodontal bone resorption. Markers of bone formation and resorption were both increased, an indication of a high rate of bone turnover.
机译：我们报道了一个7岁的日本女孩，患有Braun-Tinschert型干meta端发育不良（MD），这是最近认识到的常染色体显性遗传性硬化性骨发育不良。文献中来自四个家庭的所有患有这种疾病的人都来自波希米亚或其附近的一个小镇。在日本女孩中出现这种疾病表明，它不仅限于德国人。该疾病的影像学特征包括干meta端功能不全（Erlenmeyer烧瓶畸形）。软骨骨连接处的骨硬化，干epi端皮质和骨epi端缘;和干ost端-干phy端交界处的骨外溢样骨坏死。在我们描述的女孩中，后两个发现在4岁时很明显，但随着年龄的增长而变得不那么突出。干phy端小梁较粗。肱骨表现出内翻畸形，尺骨和腓骨轻度弯曲。腰椎的平均骨矿物质密度低于年龄匹配的对照组。患者表现出乳牙过早脱落，这可能是牙周骨吸收增加的迹象。骨形成和吸收的标志物均增加，表明骨转换率很高。

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