Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

被引：6

作者：

Benaicha, A.

Dommergues, M. ^{[4
]}

Jouannic, J. M. ^{[2
]}

Jacquettes, A. ^{[5
]}

Alexandre, M. ^{[3
]}

Le Merrer, M. ^{[6
]}

Le Pointe, H. Ducou

Garel, C. ^{[1
]}

机构：

[1] Hop Enfants Armand Trousscau, Serv Radiol Pediat, Dept Radiol, F-75012 Paris, France

[2] Hop Enfants Armand Trousscau, Dept Obstet Gynecol, F-75012 Paris, France

[3] Hop Enfants Armand Trousscau, Dept Neonatol, F-75012 Paris, France

[4] Univ Paris 06, Dept Obstet Gynecol, F-75252 Paris 05, France

[5] Univ Paris 06, Dept Genet, Hop La Pitie Salpetriere, AP HP, F-75252 Paris 05, France

[6] Univ Paris 05, Dept Genet, Hop Necker Enfants Malad, AP HP, Paris, France

来源：

ULTRASOUND IN OBSTETRICS & GYNECOLOGY | 2009年 / 34卷 / 06期

关键词：

chondrodysplasia punctata; fetal MRI; prenatal diagnosis; ultrasonography; TIBIA-METACARPAL TYPE; CORD COMPRESSION;

D O I：

10.1002/uog.7452

中图分类号：

O42 [声学];

学科分类号：

070206 ; 082403 ;

摘要：

Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Within the heterogeneous group of chondrodysplasia punctata, the brachytelephalangic type is noteworthy because it has a better prognosis than do the other types. We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' gestation; it was associated with polyhydramnios and a normal cervical spinal canal. Imaging features are described and differential diagnosis with other forms of chondrodysplasia punctata is discussed. Copyright (C) 2009 ISUOG. Published by John Wiley & Sons, Ltd.

引用

页码：724 / 726

页数：3

共 15 条

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[2]

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[3] Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases [J].