18三体综合征（爱德华兹综合征）：两例报告。
Trisomy 18 (Edwards syndrome): report of two cases.
作者信息
Huang C B, Huang S C
机构信息
Department of Pediatrics, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
出版信息
Changgeng Yi Xue Za Zhi. 1992 Dec;15(4):210-4.
PMID:1295656
Abstract
Edwards syndrome is the second most common autosomal trisomy syndrome, resulting from an extra chromosome in chromosome 18. Recently we encountered two cases with the following representative features: intrauterine growth retardation, polyhydramnios, low-set ears, micrognathia and clenched hands. Both cases were female newborns and had an abnormal karyotype 47, XX, 18.
摘要
爱德华兹综合征是第二常见的常染色体三体综合征，由18号染色体多一条所致。最近我们遇到两例具有以下典型特征的病例：宫内生长迟缓、羊水过多、低位耳、小颌畸形及握拳状。两例均为女性新生儿，核型均为异常的47, XX, 18。
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Micrognathia as a Diagnosis Marker for the Prenatal Identification of Edwards Syndrome.小颌畸形作为爱德华兹综合征产前诊断的标志物
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