PRENATAL-DIAGNOSIS OF FRYNS SYNDROME

被引：19

作者：

PELLISSIER, MC

PHILIP, N

POTIER, A

SCHEINER, C

AYME, S

MATTEI, JF

GIRAUD, F

机构：

[1] HOP ADULTES TIMONE,ANAT PATHOL LAB,F-13385 MARSEILLE 5,FRANCE

[2] HOP ENFANTS LA TIMONE,INSERM,U242,F-13385 MARSEILLE 5,FRANCE

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 04期

关键词：

FRYNS SYNDROME; PRENATAL DIAGNOSIS ULTRASONOGRAPHY; CONGENITAL DIAPHRAGMATIC DEFECT;

D O I：

10.1002/pd.1970120410

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.

引用

页码：299 / 303

页数：5

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