Froster-Iskenius U G, Baird P A
Department of Obstetrics and Gynaecology, Lubeck Medical University, Federal Republic of Germany.
Teratology. 1990 Jan;41(1):23-31. doi: 10.1002/tera.1420410104.
Amelia, or complete absence of a limb, is a very rare congenital anomaly. The incidence of amelia in a population of 1,213,913 consecutive livebirths in British Columbia during the period 1952-1984 was studied using the records of a population-based registry with multiple sources of ascertainment. There were 18 cases of amelia, giving a minimal incidence rate of 0.15 per 10,000 livebirths for this birth defect. Amelia occurred equally frequently in upper and lower limbs, and 11 of 18 (61%) liveborn cases also had malformations of other organ systems. In the group with lower limb amelia a specific pattern of associated malformations, which included omphalocele and diaphragmatic defects, was identified. There was no evidence for familial recurrence of amelia. Conditions to be considered in differential diagnosis are discussed.
肢体缺如，即肢体完全缺失，是一种非常罕见的先天性异常。利用一个基于人群的登记处的记录（该登记处有多种确诊来源），对1952年至1984年期间不列颠哥伦比亚省连续1,213,913例活产人群中肢体缺如的发生率进行了研究。有18例肢体缺如病例，这种出生缺陷的最低发病率为每10,０００例活产中有0.15例。上肢和下肢肢体缺如的发生率相同，18例存活病例中有11例（61%）还伴有其他器官系统的畸形。在下肢肢体缺如组中，发现了一种特定的相关畸形模式，包括脐膨出和膈肌缺损。没有证据表明肢体缺如有家族性复发。文中讨论了鉴别诊断时需要考虑的情况。
