产前超声诊断1例单心房型埃-范二氏综合征。

Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium.

作者信息

Horigome H, Hamada H, Sohda S, Oyake Y, Kurosaki Y

机构信息

Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba 305, Japan.

出版信息

Pediatr Radiol. 1997 Dec;27(12):942-4. doi: 10.1007/s002470050277.

DOI:10.1007/s002470050277

PMID:9388288

Abstract

We present an infant with the lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, short limbs and a single atrium. The postnatal radiographic features of the skeleton favoured the diagnosis of Verma-Naumoff type or Saldino-Noonan type short rib-polydactyly syndrome (SRPS). We discuss the criteria for the differential diagnosis of patients with SRPS, which can be difficult because of the overlap of the various phenotypes.

摘要

我们报告一例患有致死性埃利斯-范克里维尔德综合征的婴儿，该婴儿在产前通过超声检查发现胸部狭窄、手足轴后多指畸形、四肢短小以及单心房而被诊断。出生后骨骼的放射学特征支持弗尔马-瑙莫夫型或萨尔迪诺-努南型短肋多指综合征（SRPS）的诊断。我们讨论了SRPS患者的鉴别诊断标准，由于各种表型的重叠，这可能具有挑战性。