✦ LIBER ✦

Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester

✍ Scribed by Charles Tsung-Che Hsieh; Guang-Perng Yeh; Hsin-Hung Wu; Joung-Liang Wu; Pan-Hsin Chou; Yueh-Min Lin

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 249 KB
Volume: 36
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.20360

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008

📜 SIMILAR VOLUMES

Osteogenesis imperfecta and other skelet

Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester

✍ Makrydimas, George ;Souka, Athena ;Skentou, Hara ;Lolis, Dimitrios ;Nicolaides, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 206 KB 👁 2 views

Increased nuchal translucency in the fir

Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta

✍ Viora, Elsa ;Sciarrone, Andrea ;Bastonero, Simona ;Errante, Giuseppe ;Campogrand 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 518 KB

Makrydimas and colleagues recently reported two cases of subcutaneous edema in the back of the fetal neck at 10-14 weeks associated with osteogenesis imperfecta [Makrydimas et al., 2001]. We report a very similar case we have observed at 13 and 16 weeks in a pregnancy without any family risk. A hea

Screening for trisomy 21 in twin pregnan

Screening for trisomy 21 in twin pregnancies in the first trimester using free β-hCG and PAPP-A, combined with fetal nuchal translucency thickness

✍ Kevin Spencer 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB 👁 1 views

In the ®rst trimester of pregnancy the biochemical markers free b-hCG and pregnancy associated plasma protein-A (PAPP-A) are used for the prenatal screening of trisomy 21, either alone or in combination with nuchal translucency (NT) thickness. In this study, I have analysed the distribution of these