Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

2000 ◽  
Vol 106 (3) ◽  
pp. 351-354 ◽  
Author(s):  
A.R. Afzal ◽  
A. Rajab ◽  
C. Fenske ◽  
A. Crosby ◽  
N. Lahiri ◽  
...  
Keyword(s):  
Robinow Syndrome ◽  
Chromosome 9Q22

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

2000 ◽  
Vol 106 (3) ◽  
pp. 351-354
Author(s):  
A.R. Afzal ◽  
A. Rajab ◽  
C. Fenske ◽  
A. Crosby ◽  
N. Lahiri ◽  
...  
Keyword(s):  
Robinow Syndrome ◽  
Chromosome 9Q22

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.

Robinow syndrome: report of two patients with cystic kidney disease

2008 ◽  
Vol 37 (6) ◽  
pp. 481-484 ◽  
Author(s):  
Lynn Wiens ◽  
D. K. Strickland ◽  
Barbara Sniffen ◽  
Bradley A. Warady
Keyword(s):  
Kidney Disease ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Robinow Syndrome ◽  
Syndrome Report

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Gestational Age ◽  
Normal Values ◽  
The Other ◽  
Male And Female ◽  
Rieger Syndrome ◽  
Neonatal Diagnosis ◽  
Robinow Syndrome ◽  
Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing

2021 ◽  
Author(s):  
Helen McDermott ◽  
Hannah K. Robinson ◽  
Richard Caswell ◽  
Harsha Gowda ◽  
Amaka Offiah ◽  
...  
Keyword(s):  
Preterm Infant ◽  
Exome Sequencing ◽  
Extremely Preterm ◽  
Robinow Syndrome

Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22

2009 ◽  
Vol 35 (12) ◽  
pp. 2051-2053 ◽  
Author(s):  
Klara Mosterd ◽  
Anja Sommer ◽  
Arienne van Marion ◽  
Martin Lacko ◽  
Jos Herbergs ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Interstitial Deletion ◽  
Basal Cell Nevus Syndrome ◽  
Chromosome 9Q22

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

scholarly journals Robinow syndrome and fusion of primary teeth

2017 ◽  
Vol 8 (3) ◽  
pp. 479
Author(s):  
PritiSushil Jain ◽  
TejashriShreyas Gupte ◽  
AbdulkadeerM Jetpurwala ◽  
ShelyPratik Dedhia
Keyword(s):  
Primary Teeth ◽  
Robinow Syndrome

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods

2021 ◽  
Author(s):  
Sajid Malik ◽  
Gökhan Nalbant ◽  
Moqadsa Noreen ◽  
Muhammad Afzal ◽  
Aslıhan Tolun
Keyword(s):  
Robinow Syndrome
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