Literature DB >> 11223845

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

G Makrydimas1, A Souka, H Skentou, D Lolis, K Nicolaides.   

Abstract

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency. Copyright 2001 Wiley Liss, Inc.

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Mesh:

Year:  2001        PMID: 11223845

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis.

Authors:  Ibuki Kimura; Ryota Araki; Toshiyuki Yoshizato; Shingo Miyamoto
Journal:  J Med Ultrason (2001)       Date:  2015-06-24       Impact factor: 1.314

Review 2.  Skeletal dysplasias.

Authors:  Deborah Krakow
Journal:  Clin Perinatol       Date:  2015-04-08       Impact factor: 3.430

3.  Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III.

Authors:  Antonella Vimercati; Mariantonietta Panzarino; Ilaria Totaro; Annarosa Chincoli; Luigi Selvaggi
Journal:  J Prenat Med       Date:  2013-01

4.  Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Authors:  Cornelia Hofstaetter; Carolina Courage; Deborah Bartholdi; Saskia Biskup; Luigi Raio
Journal:  Clin Case Rep       Date:  2018-01-17

5.  [HELLP syndrome: controversies and prognosis].

Authors:  M Arigita Lastra; G S Martínez Fernández
Journal:  Hipertens Riesgo Vasc       Date:  2020-08-16
  5 in total

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