Dunin-Wasowicz D, Krajewska-Walasek M, Rowecka-Trzebicka K, Gurkau-Malecha M, Gutkowska A, Chrzanowska K
Oddział Patologii Noworodka i Niemowlecia Centrum Zdrowia Dziecka w Warszawie.
Pediatr Pol. 1995 Oct;70(10):865-74.
Congenital malformations most useful for the diagnosis of trisomy 18 in the first days of life were defined based on observations of newborns with Edwards syndrome treated at the Child Health Center in 1992-1994. Intrauterine growth retardation, facial skeleton dysmorphy, congenital heart malformation, mainly VSD, extremity malformations, especially of the palms and feet found in the newborn suggest a diagnosis of Edwards syndrome. The need to differentially diagnose trisomy 18 with autosomal recessive syndrome TAR, Roberts and Smith-Lemli-Opitz is stressed.
基于1992 - 1994年在儿童健康中心接受治疗的患有爱德华兹综合征新生儿的观察结果，确定了在生命最初几天对18三体综合征诊断最有用的先天性畸形。宫内生长迟缓、面部骨骼畸形、先天性心脏畸形（主要是室间隔缺损）、四肢畸形，尤其是新生儿中发现的手掌和足部畸形提示爱德华兹综合征的诊断。强调了需要将18三体综合征与常染色体隐性综合征TAR、罗伯茨综合征和史密斯-勒米-奥皮茨综合征进行鉴别诊断。
