Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases

被引：7

作者：

den Hollander, NS ^{[1
]}

van der Harten, HJ ^{[1
]}

Laudy, JAM ^{[1
]}

van de Weg, P ^{[1
]}

Wladimiroff, JW ^{[1
]}

机构：

[1] Univ Hosp Dijkzigt, Dept Obstet & Gynecol, NL-3015 GD Rotterdam, Netherlands

来源：

ULTRASOUND IN OBSTETRICS & GYNECOLOGY | 1998年 / 11卷 / 04期

关键词：

ultrasound; short rib (polydactyly) skeletal dysplasia; osteochondrodysplasia;

D O I：

10.1046/j.1469-0705.1998.11040298.x

中图分类号：

O42 [声学];

学科分类号：

070206 ; 082403 ;

摘要：

The early second-trimester sonographic diagnosis of true infants with short rib (polydactyly) dysplasia type IV (Beemer-Langer dysplasia) is presented. In addition to short ribs, this syndrome is characterized by short limbs with or without polydactyly. There are often associated defects, particularly neural tube anomalies. The occurrence of consanguinity and of four affected siblings in this family support autosomal recessive inheritance.

引用

页码：298 / 302

页数：5

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