scholarly journals Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

2017 ◽  
Vol 5 (7) ◽  
pp. 1072-1076 ◽  
Author(s):  
Bolette F. Jeppesen ◽  
Hanne B. Hove ◽  
Sven Kreiborg ◽  
Nuno V. Hermann ◽  
Tron A. Darvann ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Autosomal Recessive ◽  
3D Ultrasound ◽  
Robinow Syndrome

Ror2knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

2004 ◽  
Vol 229 (2) ◽  
pp. 400-410 ◽  
Author(s):  
Georg C. Schwabe ◽  
Britta Trepczik ◽  
Kathrin Süring ◽  
Norbert Brieske ◽  
Abigail S. Tucker ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Robinow Syndrome ◽  
Developmental Pathology

Differential diagnosis of pseudotrisomy 13 syndrome

2012 ◽  
Vol 1 (1-2) ◽  
Author(s):  
Danízar Vásquez Carlón ◽  
Margarita Alvarez de la Rosa Rodríguez ◽  
Ana I. Padilla Pérez ◽  
Ingrid Martínez Wallin ◽  
Juan M. Troyano Luque
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Poor Prognosis ◽  
Autosomal Recessive ◽  
Literature Search ◽  
Normal Karyotype ◽  
Autosomal Recessive Disorder ◽  
Limited Information ◽  
The Poor ◽  
Similar Phenotype

AbstractPseudotrisomy 13 syndrome is determined by the combination of three findings: holoprosencephaly, postaxial polydactyly, and a normal karyotype. We report two cases of a prenatal diagnosis of pseudotrisomy 13 syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype and karyotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remains unclear; however, it is thought to be monogenic and inherited as an autosomal recessive disorder. Given the poor prognosis and the easily recognizable malformations associated with this disease, it is important to perform an early diagnosis.

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

1988 ◽  
Vol 8 (3) ◽  
pp. 215-229 ◽  
Author(s):  
K. Zerres ◽  
M. Hansmann ◽  
R. Mallmann ◽  
U. Gembruch
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney

Early Prenatal Diagnosis of Blakes’ Pouch Cyst by 2D/3D Ultrasound with Cristal and Realistic Vue Application

2018 ◽  
Vol 37 (3) ◽  
pp. 216-221
Author(s):  
Gabriele Tonni ◽  
Gianpaolo Grisolia ◽  
Paolo Zampriolo ◽  
Edward Araujo Júnior ◽  
Rodrigo Ruano
Keyword(s):  
Prenatal Diagnosis ◽  
3D Ultrasound

Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability

2020 ◽  
Vol 29 (3) ◽  
pp. 137-140
Author(s):  
Emre Kirat ◽  
Hatice Mutlu Albayrak ◽  
Bahtiyar Sahinoglu ◽  
Abdullah Ihsan Gurler ◽  
Kadri Karaer
Keyword(s):  
Autosomal Recessive ◽  
Clinical Variability ◽  
Robinow Syndrome

scholarly journals Impact of fetal or child loss on parents’ perceptions of non-invasive prenatal diagnosis for autosomal recessive conditions

Midwifery ◽  
2016 ◽  
Vol 34 ◽  
pp. 105-110 ◽  
Author(s):  
Laura Pisnoli ◽  
Anita O’Connor ◽  
Lesley Goldsmith ◽  
Leigh Jackson ◽  
Heather Skirton
Keyword(s):  
Prenatal Diagnosis ◽  
Autosomal Recessive ◽  
Child Loss ◽  
Non Invasive

scholarly journals Prenatal Diagnosis of EEC Syndrome with “Lobster Claw” Anomaly by 3D Ultrasound

2012 ◽  
Vol 2 ◽  
pp. 40 ◽  
Author(s):  
Livia T. Rios ◽  
Edward Araujo ◽  
Ana C. R. Caetano ◽  
Luciano M. Nardozza ◽  
Antonio F. Moron ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cleft Lip ◽  
Three Dimensional ◽  
3D Ultrasound ◽  
Eec Syndrome ◽  
Cleft Lip Palate ◽  
The Right ◽  
Hands And Feet ◽  
Genetic Anomaly ◽  
Better Than

The EEC syndrome is a genetic anomaly characterized by the triad: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the “lobster-claw” hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2nd and 3rd fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy

2006 ◽  
Vol 26 (4) ◽  
pp. 392-393 ◽  
Author(s):  
Harald Gaspar ◽  
Laurence Michel-Calemard ◽  
Yves Morel ◽  
Josef Wisser ◽  
Thomas Stallmach ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Index Patient ◽  
Polycystic Kidney ◽  
A Current
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