[一名风险未知女性胎儿水致死综合征（萨洛宁-赫尔瓦-诺里奥综合征）的产前诊断：一例长期存活病例报告]
[Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival].
作者信息
Camera G, Carbone L D, Centa A, Zucchinetti P, Barbieri G, Garaventa M
机构信息
Centro di genetica umana, Ospedali Galliera di Genova.
出版信息
Pathologica. 1991 May-Jun;83(1085):359-64.
PMID:1923636
Abstract
A female infant with hydrolethalus (Salonen-Herva-Norio) syndrome, an autosomal recessive disorder, is reported. This condition was suspected at 26 weeks of gestation by fetal ultrasonographic examination. The pregnancy was complicated by polyhydramnios. The newborn showed hydrocephalus, occipital encephalocele, micrognathia, interventricular defect, hallucal duplication. The patient died at age 5 months and 11 days.
摘要
报告了一名患有致死性脑积水（萨洛宁-赫尔瓦-诺里奥）综合征的女婴，这是一种常染色体隐性疾病。在妊娠26周时通过胎儿超声检查怀疑有此病症。妊娠并发羊水过多。新生儿表现为脑积水、枕部脑膨出、小颌畸形、室间隔缺损、拇趾重复畸形。患儿于5个月零11天时死亡。
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