Literature DB >> 3746837

Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

M D Bain, R M Winter, J Burn.   

Abstract

A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.

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Mesh:

Year:  1986        PMID: 3746837      PMCID: PMC1049704          DOI: 10.1136/jmg.23.4.350

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  7 in total

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Authors:  R S Wadia
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

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Authors:  M Robinow; F N Silverman; H D Smith
Journal:  Am J Dis Child       Date:  1969-06

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Authors:  M Robinow; W C Chumlea
Journal:  Radiology       Date:  1982-05       Impact factor: 11.105

4.  Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

Authors:  R S Wadia; D B Shirole; M S Dikshit
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

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Journal:  Arch Fr Pediatr       Date:  1982 Aug-Sep

6.  Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).

Authors:  W B Wadlington; V L Tucker; R N Schimke
Journal:  Am J Dis Child       Date:  1973-08

7.  Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.

Authors:  R J Shprintzen; R B Goldberg; P Saenger; E J Sidoti
Journal:  Am J Dis Child       Date:  1982-07
  7 in total
  10 in total

Review 1.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

2.  Robinow syndrome in two siblings from consanguineous parents.

Authors:  D F Schorderet; S Dahoun; I Defrance; D Nusslé; M A Morris
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183

3.  Robinow syndrome.

Authors:  M Van Steensel
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

4.  Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Authors:  Kieran J Bunn; Phil Daniel; Heleen S Rösken; Adam C O'Neill; Sophia R Cameron-Christie; Tim Morgan; Han G Brunner; Angeline Lai; Henricus P M Kunst; David M Markie; Stephen P Robertson
Journal:  Am J Hum Genet       Date:  2015-03-26       Impact factor: 11.025

5.  Robinow syndrome with parental consanguinity.

Authors:  D Glaser; J Herbst; K Roggenkamp; W Tünte; W Lenz
Journal:  Eur J Pediatr       Date:  1989-06       Impact factor: 3.183

6.  A new form of rhizo-mesomelic bone dysplasia.

Authors:  A Baxova; K Kozlowski; I Netriova
Journal:  Pediatr Radiol       Date:  1995

7.  Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Authors:  Miguel Verbitsky; Priya Krithivasan; Ekaterina Batourina; Atlas Khan; Sarah E Graham; Maddalena Marasà; Hyunwoo Kim; Tze Y Lim; Patricia L Weng; Elena Sánchez-Rodríguez; Adele Mitrotti; Dina F Ahram; Francesca Zanoni; David A Fasel; Rik Westland; Matthew G Sampson; Jun Y Zhang; Monica Bodria; Byum Hee Kil; Shirlee Shril; Loreto Gesualdo; Fabio Torri; Francesco Scolari; Claudia Izzi; Joanna A E van Wijk; Marijan Saraga; Domenico Santoro; Giovanni Conti; David E Barton; Mark G Dobson; Prem Puri; Susan L Furth; Bradley A Warady; Isabella Pisani; Enrico Fiaccadori; Landino Allegri; Maria Ludovica Degl'Innocenti; Giorgio Piaggio; Shumyle Alam; Maddalena Gigante; Gianluigi Zaza; Pasquale Esposito; Fangming Lin; Ana Cristina Simões-E-Silva; Andrzej Brodkiewicz; Dorota Drozdz; Katarzyna Zachwieja; Monika Miklaszewska; Maria Szczepanska; Piotr Adamczyk; Marcin Tkaczyk; Daria Tomczyk; Przemyslaw Sikora; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; Vladimir J Lozanovski; Zoran Gucev; Iuliana Ionita-Laza; Ian B Stanaway; David R Crosslin; Craig S Wong; Friedhelm Hildebrandt; Jonathan Barasch; Eimear E Kenny; Ruth J F Loos; Brynn Levy; Gian Marco Ghiggeri; Hakon Hakonarson; Anna Latos-Bieleńska; Anna Materna-Kiryluk; John M Darlow; Velibor Tasic; Cristen Willer; Krzysztof Kiryluk; Simone Sanna-Cherchi; Cathy L Mendelsohn; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2021-02-17       Impact factor: 14.978

8.  Robinow Syndrome: A Rare Case Report and Review of Literature.

Authors:  Cristalle Soman; Ashok Lingappa
Journal:  Int J Clin Pediatr Dent       Date:  2015-08-11

9.  Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.

Authors:  Kai Yang; Jianjiang Zhu; Ya Tan; Xiaofei Sun; Huawei Zhao; Guodong Tang; Dongliang Zhang; Hong Qi
Journal:  J Clin Lab Anal       Date:  2019-10-16       Impact factor: 2.352

10.  Obstetrical Challenges in Robinow Syndrome.

Authors:  Yingao Zhang; Marco Casanova; Matthew Shanahan; V Reid Sutton; Karin Fox
Journal:  Case Rep Obstet Gynecol       Date:  2022-07-22
  10 in total

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