先天性拇指畸形及其相关的综合症-LWWJournals

先天性拇指畸形及其相关的综合症

Ashbaugh Heidi BS等

From the *University of Miami Miller School of Medicine; and †Departments of Orthopaedic and Plastic Surgery, University of Miami, Florida.

摘要：新生儿上肢缺损畸形的发生率为3.4%，其中拇指缺损畸形占16%。胚胎学研究表明，手部的发生发展始于胚胎第5周，这一时期也是心血管系统、神经系统和造血系统发生发展的时期。因此，患有手部先天性畸形的婴幼儿可能同时存在心血管、神经和造血系统的异常，需要全面系统的体格检查。尽管40%~50%的先天性手部畸形病因未明，但已有几种畸形被检测到与某些特异的基因突变有关，另一些则是多种致畸因素的结果。本文总结了可能与拇指畸形伴随出现的相应综合症，以利临床医生诊断。

Attached original abstract of paper:

Congenital Thumb Deformities and Associated Syndromes

Ashbaugh, Heidi BS; Gellman, Harris MD

Abstract

Upper limb defects occur in approximately 3.4 per 10,000 live births. Major thumb defects represent 16% of these upper limb defects (Tay SC, Moran SL, Shin AY, et al. The hypoplastic thumb. J Am Acad Orthop Surg 2006;14:354-366). Embryologically, hand development begins by the fifth week. This occurs simultaneously with the growth and development of the cardiovascular, neurologic, and hematopoietic systems. Therefore, congenital anomalies seen in the hands of infants may indicate significant anomalies in these other systems, requiring a comprehensive physical evaluation. Although the cause of 40% to 50% of congenital hand anomalies is unknown (Gallant GG, Bora FW. Congenital deformities of the upper extremity. J Am Acad Orthop Surg 1996;4:163-171), several others have traced this to specific genetic mutations. Others are due to a variety of teratogenic effects (Sadler TW. Langman's Medical Embryology. 10th ed. Philadelphia: Lippincott Williams

&Wilkins, Chapter 9, 2006:125-142). For the clinician, this paper has been organized to identify possible corresponding syndromes that may accompany specific thumb deformities.