无多指畸形的比默尔型致死性短肋综合征。

Lethal short rib syndrome of the Beemer type without polydactyly.

作者信息

Lungarotti M S, Martello C, Marinelli I, Falasca L

机构信息

Isituto di Pediatria, Università di Perugia, Italy.

出版信息

Pediatr Radiol. 1993;23(4):325-6. doi: 10.1007/BF02010929.

DOI:10.1007/BF02010929

PMID:8414768

Abstract

A new case of Beemer short-rib dwarfism is reported and the clinical and radiological differences between this and Majewski type are discussed. The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis.

摘要

报告了一例新的比默短肋发育不全病例，并讨论了该病例与马耶夫斯基型之间的临床和放射学差异。强调了与多指（趾）畸形的有无相关的临床变异性以及产前诊断的重要性。