Three-dimensional sonographic findings in congenital (harlequin) ichthyosis

被引:29
作者
Vohra, N [1 ]
Rochelson, B [1 ]
Smith-Levitin, M [1 ]
机构
[1] N Shore Univ Hosp, Div Maternal Fetal Med, Dept Obstet & Gynecol, Manhasset, NY 11030 USA
关键词
D O I
10.7863/jum.2003.22.7.737
中图分类号
O42 [声学];
学科分类号
070206 [声学]; 082403 [水声工程];
摘要
Harlequin ichthyosis is a lethal autosomal recessive disorder characterized by an extremely thickened keratin layer of skin, flattened ears, and diffuse platelike scales. Prenatal sonographic diagnosis has been described, with findings of a persistently open mouth, echogenic amniotic fluid, and fixed flexion of the extremities. Here we describe a case of harlequin ichthyosis in which the syndromic features were shown best on three-dimensional (3D) and four-dimensional (4D) real-time sonography.
引用
收藏
页码:737 / 739
页数:3
相关论文
共 7 条
[1]
The pathogenesis of severe congenital ichthyosis of the neonate [J].
Akiyama, M .
JOURNAL OF DERMATOLOGICAL SCIENCE, 1999, 21 (02) :96-104
[2]
Akiyama M, 1999, PRENATAL DIAG, V19, P167, DOI 10.1002/(SICI)1097-0223(199902)19:2<167::AID-PD477>3.3.CO
[3]
2-M
[4]
Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach [J].
Bongain, A ;
Benoit, B ;
Ejnes, L ;
Lambert, JC ;
Gillet, JY .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2002, 20 (01) :82-85
[6]
Intra-amniotic debris identified at ultrasound scanning: A feature of congenital ichthyosis [J].
Montague, I ;
Fox, R ;
Mann, R .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1997, 9 (05) :350-351
[7]
WATSON WJ, 1995, J ULTRAS MED, V14, P241