Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III

被引：0

作者：

Nadjari, M

Fasouliotis, SJ

Ariel, I

Raas-Rothschild, A

Bar-Ziv, J

Elchalal, U

机构：

[1] Hebrew Univ Jerusalem, Sch Med, Dept Obstet & Gynecol, Hadassah Ein Kerem Med Ctr, IL-91120 Jerusalem, Israel

[2] Hebrew Univ Jerusalem, Sch Med, Hadassah Ein Kerem Med Ctr, Dept Pathol, IL-91010 Jerusalem, Israel

[3] Hebrew Univ Jerusalem, Sch Med, Hadassah Ein Kerem Med Ctr, Dept Human Genet, IL-91010 Jerusalem, Israel

[4] Hebrew Univ Jerusalem, Sch Med, Hadassah Ein Kerem Med Ctr, Dept Radiol, IL-91010 Jerusalem, Israel

来源：

PRENATAL DIAGNOSIS | 2000年 / 20卷 / 08期

关键词：

ultrasonography; prenatal diagnosis; microcephalic osteodysplastic primordial dwarfism;

D O I：

10.1002/1097-0223(200008)20:8<666::AID-PD887>3.0.CO;2-L

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiogaphic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease. Copyright (C) 2000 John Wiley & Sons, Ltd.

引用

页码：666 / 669

页数：4

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