CLASSIFICATION AND IDENTIFICATION OF INHERITED BRACHYDACTYLIES
CLASSIFICATION AND IDENTIFICATION OF INHERITED BRACHYDACTYLIES
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DOI：
10.1136/jmg.16.1.36
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发表时间：
1979-01-01
影响因子：
4
通讯作者：
FITCH, N
中科院分区：
文献类型：
--
作者：
FITCH, N
对短指畸形模式的研究产生了识别不同类型的新方法。 A-1 型的特点是中指骨成比例减少。 B 型可能是类似截肢的缺陷。在 C 型中，第四中指骨通常是最长的，而 E 型（Riccardi 和 Holmes，1974）的特点是掌骨短和远端指骨短。身材矮小通常出现在 A-1 型和 E 型短指中（Riccardi 和 Holmes，1974），也可能出现在某些 C 型短指患者中。由于矮个子儿童的手较短，因此在非常轻微的短指表现的患者中，身材矮小的原因可能会被忽视。对于每一个身材矮小的孩子，都应该仔细检查其双手。如果手过短、缺少任何远端折痕、任何手指缩短或掌骨较短，则应进行 X 光检查以寻找短指 A-1、C 或 E。仍需要更多信息。在未来的报告中，重要的是进行骨骼调查、模式轮廓分析，并记录患有短指 C 的儿童的身高。最有趣的是每种类型的胎儿肢体何时可供研究。
A search for malformation patterns in brachydactylies resulted in new ways to identify the different types. Type A-1 can be characterized by a proportionate reduction of the middle phalanges. Type B may be an amputation-like defect. In type C the 4th middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterized 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 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. 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 of any finger, or if any metacarpals are short, then X-rays should be taken 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 analysis, 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.