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

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

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

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

Robinow Syndrome (Mim 180700, 268310)

2012 ◽  
pp. 292-294
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Robinow Syndrome

Chapter 62 covers Robinow syndrome (MIM 180700, 268310), including major clinical findings, radiographic features, and differential diagnoses.

Anesthetic management of a case of robinow syndrome

2016 ◽  
Vol 2 (2) ◽  
pp. 79
Author(s):  
MadhuriS Kurdi ◽  
JagadishB Alur ◽  
PriyaM Sindhu ◽  
R Ranjana
Keyword(s):  
Anesthetic Management ◽  
Robinow Syndrome
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