Prenatal diagnosis of osteopathia striata with cranial sclerosis

被引：8

作者：

Vasiljevic, Alexandre ^{[1
]}

Azzi, Caroline ^{[2
]}

Lacalm, Audrey ^{[3
]}

Combourieu, Daniele ^{[2
]}

Collardeau-Frachon, Sophie ^{[1
]}

Dijoud, Frederique ^{[1
]}

Massardier, Jerome ^{[2
]}

Van Hul, Wim ^{[4
]}

Fromageoux, Caroline ^{[5
]}

Guibaud, Laurent ^{[2
,3
]}

Gaucherand, Pascal ^{[2
]}

Cordier, Marie-Pierre ^{[2
,6
]}

Massoud, Mona ^{[2
]}

机构：

[1] Univ Lyon 1, Hop Femme Mere Enfant, Lab Pathol, F-69365 Lyon, France

[2] Hop Femme Mere Enfant, Ctr Pluridisciplinaire Diagnost Prenatal, Lyon, France

[3] Univ Lyon 1, Hop Femme Mere Enfant, Dept Imagerie Pediat & Foetale, F-69365 Lyon, France

[4] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium

[5] Clin Guilherand Granges, Serv Obstet, Guilherand Granges, France

[6] Univ Lyon 1, Hop Femme Mere Enfant, Serv Genet, F-69365 Lyon, France

来源：

PRENATAL DIAGNOSIS | 2015年 / 35卷 / 03期

关键词：

D O I：

10.1002/pd.4513

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

What is already known about this topic? Osteopathia striata with cranial sclerosis is a rare bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Age at diagnosis and clinical presentation are variable, ranging from asymptomatic to neonatal lethal cases. What does this topic add? Prenatal diagnosis is challenging because fetal presentation is variable and mothers with OS-CS can be misdiagnosed. We report the first prenatal case of OS-CS with sonographic and autopsy findings and discuss the possibility of a prenatal diagnosis when the Wilms tumor on the X chromosome mutation is identified in the mother. © 2014 John Wiley & Sons, Ltd.

引用

页码：302 / 304

页数：3

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