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Classification and identification of inherited brachydactylies

机译:遗传性近距离细菌的分类和鉴定

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摘要

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with proportionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have ϰ-rays to look for brachydactyly A-1, C, or E.Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.
机译:寻找近距离畸形的畸形模式,已经找到了识别不同类型的新方法。 A-1型的特征是中指骨的比例减少。 B型被认为是截肢样缺陷。在C型中,第四中指骨通常是最长的,而E型(Riccardi和Holmes,1974)的特征是掌骨短和指骨短。身材矮小通常存在于A-1型和E型近视中(Riccardi and Holmes,1974),并且可能存在于某些具有近视C的个体中。由于矮个子的孩子双手较矮,所以在表达较轻的患者中可能短身的原因可能是身材矮小的原因。建议在每个身材矮小的儿童中,应仔细检查其手。如果双手不成比例地短,如果没有远端折痕,或者任何手指都短而轻,如果掌骨短,那么重要的是,用ϰ射线寻找近距A-1, C或E。仍然需要很多信息。在将来的报告中,进行骨骼检查,模式轮廓分析并注意患有近足畸形C患儿的身高非常重要。最有趣的是每种类型的胎儿四肢均可用于研究。

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