Published by: Kowsar

The First Report of Robinow Syndrome in Iran and Literature Review

Zohreh Kavehmanesh 1 and Ali Reza Shafiee 2 , *
Authors Information
1 Department of Pediatrics, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran
2 Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, IR Iran
Article information
  • Thrita: December 20, 2013, 2 (4); 84-6
  • Published Online: November 10, 2013
  • Article Type: Case Report
  • Received: May 3, 2013
  • Revised: June 14, 2013
  • Accepted: September 30, 2013
  • DOI: 10.5812/thrita.11928

To Cite: Kavehmanesh Z, Shafiee A R. The First Report of Robinow Syndrome in Iran and Literature Review, Thrita. 2013 ;2(4):84-6. doi: 10.5812/thrita.11928.

Copyright © 2013, Thrita. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol. 1993; 2(3): 189-98[PubMed]
  • 2. Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child. 1969; 117(6): 645-51[PubMed]
  • 3. Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000; 25(4): 419-22[DOI][PubMed]
  • 4. Soliman AT, Rajab A, Alsalmi I, Bedair SM. Recessive Robinow syndrome: with emphasis on endocrine functions. Metabolism. 1998; 47(11): 1337-43[PubMed]
  • 5. Afzal AR, Jeffery S. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat. 2003; 22(1): 1-11[DOI][PubMed]
  • 6. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001; 68(6): 1321-6[DOI][PubMed]
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  • 8. Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, et al. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum Genet. 2007; 122(3-4): 389-95[DOI][PubMed]
  • 9. Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, et al. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008; 146A(21): 2804-9[DOI][PubMed]
  • 10. Chen Y, Bellamy WP, Seabra MC, Field MC, Ali BR. ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. Hum Mol Genet. 2005; 14(17): 2559-69[DOI][PubMed]
  • 11. Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S. A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Hum Mol Genet. 2009; 18(21): 4013-21[DOI][PubMed]
  • 12. Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010; 239(1): 327-37[DOI][PubMed]
  • 13. Eijkenboom DF, Verbist BM, Cremers CW, Kunst HP. Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. Arch Otolaryngol Head Neck Surg. 2012; 138(3): 309-12[DOI][PubMed]
  • 14. Tufan F, Cefle K, Turkmen S, Turkmen A, Zorba U, Dursun M, et al. Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. Am J Med Genet A. 2005; 136(2): 185-9[DOI][PubMed]
  • 15. Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, et al. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr. 2003; 162(2): 100-3[DOI][PubMed]
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