Rypens Françoise, Dubois Josée, Garel Laurent, Fournet Jean-Christophe, Michaud Jacques L, Grignon Andrée
Department of Radiology, Hôpital Ste-Justine and Université de Montréal, 3175 Côte Ste-Catherine, Montreal, Quebec, Canada H3T 1C5.
Radiographics. 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113.
Hand anomalies are difficult to diagnose and are often overlooked during prenatal ultrasonography (US). The spectrum of malformations varies from subtle finger deformities to the complete amputation of limbs. Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities (clenched hand, camptodactyly, clinodactyly, hypokinesia, clubhand, phocomelia), thumb anomalies, abnormal size (macrodactyly, trident hand), abnormal echogenicity (abnormal calcifications), abnormal number (polydactyly, syndactyly, ectrodactyly), and constriction band sequence. A fetal hand anomaly has important diagnostic and prognostic implications as well as functional consequences. Malformation may be isolated but often is associated with a syndrome or karyotype anomaly. Classification and characterization of the anomaly help to narrow the differential diagnosis: Some malformations (clenched hand, hitchhiker thumb) are highly suggestive of a specific diagnosis. The detection of a fetal hand malformation warrants a complete work-up, including complete fetal and cardiac US examinations, as well as genetic counseling to determine whether familial inquiry and karyotype analysis are necessary.
手部畸形难以诊断,在产前超声检查(US)期间常被忽视。畸形范围从细微的手指畸形到肢体完全截肢不等。根据主要异常情况,手部畸形可分为以下几类:排列异常(握拳、屈曲指、指侧弯、运动减退、畸形手、短肢畸形)、拇指异常、大小异常(巨指、三叉手)、回声异常(异常钙化)、数量异常(多指、并指、缺指)以及束带序列。胎儿手部畸形具有重要的诊断和预后意义以及功能后果。畸形可能是孤立的,但通常与综合征或核型异常相关。对畸形进行分类和特征描述有助于缩小鉴别诊断范围:某些畸形(握拳、搭便车拇指)高度提示特定诊断。检测到胎儿手部畸形需要进行全面检查,包括完整的胎儿和心脏超声检查,以及遗传咨询,以确定是否需要进行家族病史询问和核型分析。