Thanatophoric Dysplasia - Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound.

IF 0.9 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING Journal of Medical Ultrasound Pub Date : 2023-09-02 eCollection Date: 2024-10-01 DOI:10.4103/jmu.jmu_20_23
Ranjit Singh Lahel, Sangeet Kumar, Rajesh Kumar Mishra
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Abstract

Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently done. The fetus had shortening of the limbs (micromelia) with long bones (shaped like a telephone receiver), a small conical thorax, a protuberant abdomen, increased skin thickness with a cloverleaf skull, and macrocephaly. The relevant details and review of literature pertinent to the case are hereby discussed.

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胎儿期超声检测到的罕见致命性骨骼发育不良。
骨骼发育不良形成了一种混杂的骨骼发育不良集群,导致骨骼大小和形状不典型和异常。本文所讨论的病例在妊娠中期超声检查中被诊断为嗜盐性发育不良,随后进行了医学终止妊娠。胎儿四肢缩短,骨骼长(形状像电话听筒),小圆锥形胸,腹部隆起,皮肤厚度增加,头骨呈三叶草状,头大畸形。在此讨论与此案件有关的相关细节和文献综述。
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来源期刊
Journal of Medical Ultrasound
Journal of Medical Ultrasound RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
CiteScore
1.30
自引率
9.10%
发文量
90
审稿时长
10 weeks
期刊介绍: The Journal of Medical Ultrasound is the peer-reviewed publication of the Asian Federation of Societies for Ultrasound in Medicine and Biology, and the Chinese Taipei Society of Ultrasound in Medicine. Its aim is to promote clinical and scientific research in ultrasonography, and to serve as a channel of communication among sonologists, sonographers, and medical ultrasound physicians in the Asia-Pacific region and wider international community. The Journal invites original contributions relating to the clinical and laboratory investigations and applications of ultrasonography.
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