Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Am J Med Genet A. 2013 Feb;161A(2):261-7. doi: 10.1002/ajmg.a.35707. Epub 2013 Jan 15.
Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993-2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant.
上肢桡侧缺陷伴桡侧射线缺失的病因多种多样，真正的孟德尔疾病比例较低。我们开展了一项基于人群的研究，旨在阐明芬兰桡侧射线缺失的发病情况和临床谱。我们在 1993 年至 2005 年期间，对芬兰先天性畸形登记处报告的所有桡侧射线缺陷出生进行了识别。共发现 138 例（123 例活产），发病率为每 10000 例活产 1.83 例，每 10000 例活产中活产的发病率为 1.64 例。婴儿死亡率高达 35%。大多数病例与已知综合征或多种异常有关；只有 13%是真正孤立的桡侧射线缺陷。最常见的综合征是 18 三体，而在多种异常中最常见的是 VACTERL 协会。在 8.7%的病例中观察到桡侧射线缺陷与心脏异常之间存在关联。伴有主要畸形的病例比例较高表明，只有在对受累婴儿的各个器官系统进行全面评估后，才能将桡侧射线缺陷视为孤立性疾病。
