Dysmorphic Choroid Plexuses and Hydrocephalus Associated with Increased Nuchal Translucency: Early Ultrasound Markers ofde novoThanatophoric Dysplasia Type II with Cloverleaf Skull (Kleeblattschaedel)

2014 ◽  
pp. n/a-n/a
Author(s):  
Gabriele Tonni ◽  
Marcella Palmisano ◽  
Vladimiro Ginocchi ◽  
Alessandro Ventura ◽  
Maurizia Baldi ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Type Ii ◽  
Cloverleaf Skull ◽  
Choroid Plexuses ◽  
Increased Nuchal Translucency

scholarly journals The association of spinal muscular atrophy type II and increased nuchal translucency

2002 ◽  
Vol 19 (3) ◽  
pp. 312-313 ◽  
Author(s):  
E. A. P. de Jong-Pleij ◽  
P. Stoutenbeek ◽  
N. N. van der Mark-Batseva ◽  
M. A. Müller ◽  
L. Ribbert
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Nuchal Translucency ◽  
Type Ii ◽  
Spinal Muscular Atrophy Type ◽  
Increased Nuchal Translucency

scholarly journals Fetal exome sequencing for isolated increased nuchal translucency: Should we be doing it?

2021 ◽  
Author(s):  
Rhiannon Mellis ◽  
Ruth Y Eberhardt ◽  
Susan J Hamilton ◽  
Dominic J McMullan ◽  
Mark D Kilby ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case

2003 ◽  
Vol 21 (2) ◽  
pp. 200-202 ◽  
Author(s):  
E. Viora ◽  
A. Sciarrone ◽  
S. Bastonero ◽  
G. Errante ◽  
G. Botta ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Nuchal Translucency ◽  
Ultrasound Sign ◽  
Increased Nuchal Translucency

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency

2006 ◽  
Vol 26 (3) ◽  
pp. 206-213 ◽  
Author(s):  
Sophie Brisset ◽  
Serdar Kasakyan ◽  
Aurore Coulomb L'Herminé ◽  
Valérie Mairovitz ◽  
Evelyne Gautier ◽  
...  
Keyword(s):  
De Novo ◽  
Nuchal Translucency ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Increased Nuchal Translucency

scholarly journals Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

2015 ◽  
Vol 35 (13) ◽  
pp. 1278-1286 ◽  
Author(s):  
Nicole B. Burger ◽  
Mireille N. Bekker ◽  
Evelien Kok ◽  
Christianne J. M. De Groot ◽  
James F. Martin ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Cardiac Defect ◽  
Lymphatic Development ◽  
Increased Nuchal Translucency
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