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

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

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

2005 ◽  
Vol 136A (2) ◽  
pp. 185-189 ◽  
Author(s):  
Fatih Tufan ◽  
Kivanc Cefle ◽  
Seval Türkmen ◽  
Aydin Türkmen ◽  
Unal Zorba ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Autosomal Recessive ◽  
Robinow Syndrome

Rhizo-Mesomelic Dysplasias

2018 ◽  
pp. 409-442
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Mesomelic Dysplasia ◽  
Robinow Syndrome

This chapter discusses rhizo-mesomelic dysplasias and related disorders and includes discussion on omodysplasia (autosomal recessive), Robinow syndrome, dyschondrosteosis, mesomelic dysplasia (Langer type), mesomelic dysplasia (Kantaputra type), mesomelic dysplasia (Werner type), mesomelic dysplasia (Reardon-Kozlowski type), mesomelic dysplasia (Nievergelt-Savarirayan type), and mesomelic dysplasia with acral synostoses. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

10.1038/78113 ◽  
2000 ◽  
Vol 25 (4) ◽  
pp. 423-426 ◽  
Author(s):  
Hans van Bokhoven ◽  
Jacopo Celli ◽  
Hülya Kayserili ◽  
Ellen van Beusekom ◽  
Sevim Balci ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Autosomal Recessive ◽  
Gene Encoding ◽  
Robinow Syndrome

scholarly journals Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

2020 ◽  
Vol 8 ◽  
pp. 232470962091177
Author(s):  
Ali Al Kaissi ◽  
Vladimir Kenis ◽  
Mohammad Shboul ◽  
Franz Grill ◽  
Rudolf Ganger ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Respiratory Infections ◽  
Three Dimensional ◽  
Fine Motor ◽  
Heterozygous Mutation ◽  
Number Of Children ◽  
Clinical Presentations ◽  
Robinow Syndrome ◽  
Chromosome 9Q22

We aimed to understand the etiology behind the abnormal craniofacial contour and other clinical presentations in a number of children with Robinow syndrome. Seven children with Robinow syndrome were enrolled in this study (autosomal recessive caused by homozygous mutations in the ROR2 gene on chromosome 9q22, and the autosomal dominant caused by heterozygous mutation in the WNT5A gene on chromosome 3p14). In the autosomal recessive (AR) group, the main clinical presentations were intellectual, disability, poor schooling achievement, episodes of headache/migraine, and poor fine motor coordinative skills, in addition to massive restrictions of the spine biomechanics causing effectively the development of kyposcoliosis and frequent bouts of respiratory infections. Three-dimensional reconstruction computed tomography scan revealed early closure of the metopic and the squamosal sutures of skull bones. Massive spinal malsegmentation and unsegmented spinal bar were noted in the AR group. In addition to severe mesomelia and camptodactyly, in the autosomal dominant (AD) group, no craniosynostosis but few Wormian bones and the spine showed limited malsegemetation, and no mesomelia or camptodactyly have been noted. We wish to stress that little information is available in the literature regarding the exact pathology of the cranial bones, axial, and appendicular malformations in correlation with the variable clinical presentations in patients with the 2 types of Robinow syndrome.

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
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