Hill L M, Leary J
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, School of Medicine, PA 15213, USA.
Prenat Diagn. 1998 Nov;18(11):1198-201.
Short-rib polydactyly dysplasia (SRP) is an autosomal recessive, lethal skeletal dysplasia. Sonographic assessment of subsequent pregnancies is, therefore, recommended. This case indicates that this diagnosis can be made in the latter part of the first trimester. A 30-year-old multigravid woman presented at 13 weeks' gestation for an ultrasound examination. She had had a termination of pregnancy for a fetus with pathologically confirmed short-rib polydactyly dysplasia, type I (Saldino-Noonan). On transvaginal sonography, a narrow chest, symmetrical micromelia, polydactyly and anasarca were present. An autopsy confirmed recurrent SRP. Short-rib polydactyly dysplasia may be diagnosed with transvaginal sonography in the first trimester.
短肋多指发育不良（SRP）是一种常染色体隐性致死性骨骼发育不良。因此，建议对后续妊娠进行超声评估。本病例表明，在孕早期后期即可做出该诊断。一名30岁的多产妇在妊娠13周时前来进行超声检查。她曾因一名经病理确诊为I型短肋多指发育不良（Saldino-Noonan型）的胎儿而终止妊娠。经阴道超声检查发现有胸廓狭窄、对称性短肢、多指及全身水肿。尸检证实为复发性SRP。孕早期经阴道超声检查可诊断短肋多指发育不良。
