Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case

被引:1
|
作者
Garofalo, Giulia [1 ]
Cassart, Marie [1 ]
Desir, Julie [1 ]
Thomas, Dominique [1 ]
机构
[1] Univ Libre Bruxelles, Ixelles Hosp, Obstet & Gynaecol Dept, Rue Jean Paquot 63, B-1050 Ixelles, Belgium
关键词
Congenital ichthyosis; fetus; prenatal diagnosis; ultrasound; 3-DIMENSIONAL SONOGRAPHIC FINDINGS; HARLEQUIN ICHTHYOSIS;
D O I
10.1515/crpm-2018-0048
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Background: Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation: We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion: Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.
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页数:5
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