论文部分内容阅读
本文报告一例20q部份三体伴多发性畸形病儿,其母26岁。患儿系男性白种人,出生时Apgar评分为:1分钟3分;5分钟7分。生后当日因持续缺氧转入保育室监护。出生体重2 590克,身长48厘米。二处囟门,高额,双颞凸起,双眼裂小且上斜,球形鼻尖,鼻梁塌陷,双耳大且表面平坦,上唇弯曲,人中隆起,小下颏并有明显垂直凹沟,手短而宽,乳距宽,腹部器官及生殖器正常。心脏有Ⅲ级收缩期杂音,皮纹学检查指纹共有8个箕和2个斗。心脏超声图和心导
This article reports a case of 20q trisomy in children with multiple deformities, the mother of 26 years old. Children with male Caucasian, Apgar score at birth: 1 minute 3 minutes; 5 minutes 7 minutes. On the day after birth due to persistent hypoxia transferred to nursery care. Birth weight 2 590 grams, 48 cm in length. Two fontanelles, high, double temporal bumps, small and oblique eyes split, spherical tip, nasal collapse, large ears and flat surface, the upper lip is curved, the human uplift, small chin and obvious vertical groove, hand short And wide, wide milk, abdominal organs and genital normal. Systolic heart murmur Ⅲ, dermatoglyphics fingerprint a total of eight Kei and two bucket. Echocardiography and cardiac conduction