scholarly journals Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis

2014 ◽  
Vol 44 (4) ◽  
pp. 486-490 ◽  
Author(s):  
M. Inbar-Feigenberg ◽  
N. Meirowitz ◽  
D. Nanda ◽  
A. Toi ◽  
N. Okun ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Prenatal Ultrasound ◽  
Congenital Contractural Arachnodactyly ◽  
Ultrasound Findings ◽  
Beals Syndrome

scholarly journals Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly

2002 ◽  
Vol 20 (4) ◽  
pp. 395-399 ◽  
Author(s):  
N. Kölble ◽  
J. Wisser ◽  
D. Babcock ◽  
C. Maslen ◽  
R. Huch ◽  
...  
Keyword(s):  
Prenatal Ultrasound ◽  
Congenital Contractural Arachnodactyly ◽  
Ultrasound Findings

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis

2013 ◽  
Vol 33 (11) ◽  
pp. 1039-1043 ◽  
Author(s):  
Noor Niyar N. Ladhani ◽  
David Chitayat ◽  
Marjan M. Nezarati ◽  
Mittaz Crettol Laureane ◽  
Sarah Keating ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Prenatal Ultrasound ◽  
Ultrasound Findings

Abnormal prenatal ultrasound findings in mevalonic aciduria

2008 ◽  
Vol 28 (3) ◽  
pp. 257-258 ◽  
Author(s):  
V. Schwarzer ◽  
D. Haas ◽  
G. F. Hoffmann ◽  
H. Meyberg ◽  
U. Gembruch
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Findings ◽  
Mevalonic Aciduria

Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

2013 ◽  
Vol 97 (12) ◽  
pp. 806-811 ◽  
Author(s):  
Anne Debost-Legrand ◽  
Carole Goumy ◽  
Hélène Laurichesse-Delmas ◽  
Pierre Déchelotte ◽  
Anne-Marie Beaufrère ◽  
...  
Keyword(s):  
Congenital Malformations ◽  
Prenatal Ultrasound ◽  
Ultrasound Findings

scholarly journals Restrictive dermopathy and associated prenatal ultrasound findings: case report

1997 ◽  
Vol 10 (2) ◽  
pp. 140-141 ◽  
Author(s):  
J. G. van der Stege ◽  
H. L. M. van Straaten ◽  
A. C. van der Walt ◽  
J. van Eyck
Keyword(s):  
Case Report ◽  
Prenatal Ultrasound ◽  
Ultrasound Findings ◽  
Restrictive Dermopathy

Novel Risk Score for Fetuses with Congenital Diaphragmatic Hernia Based on Ultrasound Findings

2019 ◽  
Vol 30 (01) ◽  
pp. 051-058
Author(s):  
Keita Terui ◽  
Kouji Nagata ◽  
Masahiro Hayakawa ◽  
Hiroomi Okuyama ◽  
Shoichirou Amari ◽  
...  
Keyword(s):  
Prediction Model ◽  
Congenital Diaphragmatic Hernia ◽  
Risk Score ◽  
Diaphragmatic Hernia ◽  
Validation Cohort ◽  
Prenatal Ultrasound ◽  
Odds Ratios ◽  
Ultrasound Findings ◽  
Liver Herniation ◽  
Thoracic Stomach

Abstract Introduction We aimed to establish and validate a risk score for fetuses with congenital diaphragmatic hernia (CDH) using only prenatal ultrasound findings. Material and Methods Derivation (2011–2016, n = 350) and validation (2006–2010, n = 270) cohorts were obtained from a Japanese CDH study group database. Using a logistic regression analysis, we created a prediction model and weighted scoring system from the derivation dataset and calculated the odds ratio of an unsatisfactory prognosis (death within 90 days of life or hospitalization duration exceeding 180 days). Five adverse prognostic factors obtained using prenatal ultrasound, including an observed/expected lung area-to-head circumference ratio (o/eLHR) <25%, liver herniation occupying more than one-third of the thoracic space, thoracic stomach, right-side CDH, and severe malformations, were used as predictors. The obtained model was validated using the validation cohort. Results The unsatisfactory prognosis prediction model was obtained based on the adjusted odds ratios. The C statistics of the model were 0.83 and 0.80 in the derivation and validation datasets, respectively. The five variables were weighted proportionally to their adjusted odds ratios for an unsatisfactory prognosis (o/eLHR <25%, 1 point; liver herniation occupying more than one-third of the thoracic space, 1 point; thoracic stomach, 1 point; right-side CDH, 2 points; and severe malformations, 3 points). Unsatisfactory prognosis rates for the low- (0–2 points), intermediate- (3–5 points), and high-risk (6–8 points) groups were 17, 46, and 100%, respectively (p < 0.001), in the validation cohort. Conclusion Our simple risk score effectively predicted the prognosis of fetuses with CDH.

Congenital Bowing of Long Bones: Prenatal Ultrasound Findings and Diagnostic Dilemmas

2002 ◽  
Vol 17 (4) ◽  
pp. 236-239 ◽  
Author(s):  
Chantal Farra ◽  
Caroline Piquet ◽  
Marc Guillaume ◽  
Claude D’Ercole ◽  
Nicole Philip
Keyword(s):  
Prenatal Ultrasound ◽  
Long Bones ◽  
Ultrasound Findings

PRENATAL ULTRASOUND FINDINGS IN HYDROLETHALUS: CONTINUING DIFFICULTIES IN DIAGNOSIS

1996 ◽  
Vol 16 (2) ◽  
pp. 173-179 ◽  
Author(s):  
MICHAEL NORGARD ◽  
JEROME YANKOWITZ ◽  
WILLIAM RHEAD ◽  
ADAM B. KANIS ◽  
BRYAN D. HALL
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Findings

scholarly journals Prenatal ultrasound findings of fetal urethral duplication

2010 ◽  
Vol 36 (5) ◽  
pp. 652-653 ◽  
Author(s):  
A. J. Chu ◽  
J. Y. Cho ◽  
S. H. Kim ◽  
J. K. Jun
Keyword(s):  
Prenatal Ultrasound ◽  
Urethral Duplication ◽  
Ultrasound Findings
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