Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2002 May;39(5):305–310. doi: 10.1136/jmg.39.5.305

Robinow syndrome

M Patton 1, A Afzal 1
PMCID: PMC1735132  PMID: 12011143

Full Text

The Full Text of this article is available as a PDF (191.1 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Afzal A. R., Rajab A., Fenske C. D., Oldridge M., Elanko N., Ternes-Pereira E., Tüysüz B., Murday V. A., Patton M. A., Wilkie A. O. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000 Aug;25(4):419–422. doi: 10.1038/78107. [DOI] [PubMed] [Google Scholar]
  2. Afzal A. R., Rajab A., Fenske C., Crosby A., Lahiri N., Ternes-Pereira E., Murday V. A., Houlston R., Patton M. A., Jeffery S. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet. 2000 Mar;106(3):351–354. doi: 10.1007/s004390051049. [DOI] [PubMed] [Google Scholar]
  3. Al-Ata J., Paquet M., Teebi A. S. Congenital heart disease in Robinow syndrome. Am J Med Genet. 1998 May 26;77(4):332–333. doi: 10.1002/(sici)1096-8628(19980526)77:4<332::aid-ajmg16>3.0.co;2-j. [DOI] [PubMed] [Google Scholar]
  4. Bain M. D., Winter R. M., Burn J. Robinow syndrome without mesomelic 'brachymelia': a report of five cases. J Med Genet. 1986 Aug;23(4):350–354. doi: 10.1136/jmg.23.4.350. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Balci S., Beksaç S., Haliloglu M., Ercis M., Eryilmaz M. Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. Am J Med Genet. 1998 Aug 27;79(1):27–29. doi: 10.1002/(sici)1096-8628(19980827)79:1<27::aid-ajmg7>3.0.co;2-f. [DOI] [PubMed] [Google Scholar]
  6. Balci S., Erçal M. D., Say B., Atasü M. Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). Clin Dysmorphol. 1993 Jul;2(3):199–207. [PubMed] [Google Scholar]
  7. DeChiara T. M., Kimble R. B., Poueymirou W. T., Rojas J., Masiakowski P., Valenzuela D. M., Yancopoulos G. D. Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. Nat Genet. 2000 Mar;24(3):271–274. doi: 10.1038/73488. [DOI] [PubMed] [Google Scholar]
  8. Forrester W. C., Dell M., Perens E., Garriga G. A C. elegans Ror receptor tyrosine kinase regulates cell motility and asymmetric cell division. Nature. 1999 Aug 26;400(6747):881–885. doi: 10.1038/23722. [DOI] [PubMed] [Google Scholar]
  9. Guillén-Navarro E., Wallerstein R., Reich E., Zajac L., Ostrer H. Robinow syndrome with developmental brain dysplasia. Am J Med Genet. 1997 Nov 28;73(1):98–99. doi: 10.1002/(sici)1096-8628(19971128)73:1<98::aid-ajmg23>3.0.co;2-l. [DOI] [PubMed] [Google Scholar]
  10. Lee P. A., Danish R. K., Mazur T., Migeon C. J. Micropenis. III. Primary hypogonadism, partial androgen insensitivity syndrome, and idiopathic disorders. Johns Hopkins Med J. 1980 Nov;147(5):175–181. [PubMed] [Google Scholar]
  11. Loverro G., Guanti G., Caruso G., Selvaggi L. Robinow's syndrome: prenatal diagnosis. Prenat Diagn. 1990 Feb;10(2):121–126. doi: 10.1002/pd.1970100208. [DOI] [PubMed] [Google Scholar]
  12. Masiakowski P., Carroll R. D. A novel family of cell surface receptors with tyrosine kinase-like domain. J Biol Chem. 1992 Dec 25;267(36):26181–26190. [PubMed] [Google Scholar]
  13. Matsuda T., Nomi M., Ikeya M., Kani S., Oishi I., Terashima T., Takada S., Minami Y. Expression of the receptor tyrosine kinase genes, Ror1 and Ror2, during mouse development. Mech Dev. 2001 Jul;105(1-2):153–156. doi: 10.1016/s0925-4773(01)00383-5. [DOI] [PubMed] [Google Scholar]
  14. Nazer H., Gunasekaran T. S., Sakati N. A., Nyhan W. L. Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. Am J Med Genet. 1990 Dec;37(4):516–518. doi: 10.1002/ajmg.1320370417. [DOI] [PubMed] [Google Scholar]
  15. Oishi I., Sugiyama S., Liu Z. J., Yamamura H., Nishida Y., Minami Y. A novel Drosophila receptor tyrosine kinase expressed specifically in the nervous system. Unique structural features and implication in developmental signaling. J Biol Chem. 1997 May 2;272(18):11916–11923. doi: 10.1074/jbc.272.18.11916. [DOI] [PubMed] [Google Scholar]
  16. Oldridge M., Fortuna A. M., Maringa M., Propping P., Mansour S., Pollitt C., DeChiara T. M., Kimble R. B., Valenzuela D. M., Yancopoulos G. D. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet. 2000 Mar;24(3):275–278. doi: 10.1038/73495. [DOI] [PubMed] [Google Scholar]
  17. Polinkovsky A., Robin N. H., Thomas J. T., Irons M., Lynn A., Goodman F. R., Reardon W., Kant S. G., Brunner H. G., van der Burgt I. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997 Sep;17(1):18–19. doi: 10.1038/ng0997-18. [DOI] [PubMed] [Google Scholar]
  18. Reddy U. R., Phatak S., Allen C., Nycum L. M., Sulman E. P., White P. S., Biegel J. A. Localization of the human Ror1 gene (NTRKR1) to chromosome 1p31-p32 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1997 Apr 15;41(2):283–285. doi: 10.1006/geno.1997.4653. [DOI] [PubMed] [Google Scholar]
  19. Robinow M., Silverman F. N., Smith H. D. A newly recognized dwarfing syndrome. Am J Dis Child. 1969 Jun;117(6):645–651. doi: 10.1001/archpedi.1969.02100030647005. [DOI] [PubMed] [Google Scholar]
  20. Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol. 1993 Jul;2(3):189–198. [PubMed] [Google Scholar]
  21. Sabry M. A., Ismail E. A., al-Naggar R. L., al-Torki N. A., Farah S., al-Awadi S. A., Obenbergerova D., Bastaki L. Unusual traits associated with Robinow syndrome. J Med Genet. 1997 Sep;34(9):736–740. doi: 10.1136/jmg.34.9.736. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Saraiva J. M., Cordeiro I., Santos H. G. Robinow syndrome in monozygotic twins with normal stature. Clin Dysmorphol. 1999 Apr;8(2):147–150. [PubMed] [Google Scholar]
  23. Schönau E., Pfeiffer R. A., Schweikert H. U., Böwing B., Schott G. Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency. Eur J Pediatr. 1990 Jun;149(9):615–617. doi: 10.1007/BF02034745. [DOI] [PubMed] [Google Scholar]
  24. Seemanová E., Jirásek J. E., Sevcíková M., Jodl J., Kreisinger J. Fetal face syndrome with mental retardation. Humangenetik. 1974 Jun 26;23(1):79–81. doi: 10.1007/BF00295686. [DOI] [PubMed] [Google Scholar]
  25. Shprintzen R. J., Goldberg R. B., Saenger P., Sidoti E. J. Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. Am J Dis Child. 1982 Jul;136(7):594–597. doi: 10.1001/archpedi.1982.03970430026007. [DOI] [PubMed] [Google Scholar]
  26. Soliman A. T., Rajab A., Alsalmi I., Bedair S. M. Recessive Robinow syndrome: with emphasis on endocrine functions. Metabolism. 1998 Nov;47(11):1337–1343. doi: 10.1016/s0026-0495(98)90301-8. [DOI] [PubMed] [Google Scholar]
  27. Takeuchi S., Takeda K., Oishi I., Nomi M., Ikeya M., Itoh K., Tamura S., Ueda T., Hatta T., Otani H. Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation. Genes Cells. 2000 Jan;5(1):71–78. doi: 10.1046/j.1365-2443.2000.00300.x. [DOI] [PubMed] [Google Scholar]
  28. Taylor S. I., Cama A., Accili D., Barbetti F., Imano E., Kadowaki H., Kadowaki T. Genetic basis of endocrine disease. 1. Molecular genetics of insulin resistant diabetes mellitus. J Clin Endocrinol Metab. 1991 Dec;73(6):1158–1163. doi: 10.1210/jcem-73-6-1158. [DOI] [PubMed] [Google Scholar]
  29. Thomas J. T., Kilpatrick M. W., Lin K., Erlacher L., Lembessis P., Costa T., Tsipouras P., Luyten F. P. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet. 1997 Sep;17(1):58–64. doi: 10.1038/ng0997-58. [DOI] [PubMed] [Google Scholar]
  30. Thomas J. T., Lin K., Nandedkar M., Camargo M., Cervenka J., Luyten F. P. A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet. 1996 Mar;12(3):315–317. doi: 10.1038/ng0396-315. [DOI] [PubMed] [Google Scholar]
  31. Webber S. A., Wargowski D. S., Chitayat D., Sandor G. G. Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome? Am J Med Genet. 1990 Dec;37(4):519–521. doi: 10.1002/ajmg.1320370418. [DOI] [PubMed] [Google Scholar]
  32. Wiens L., Strickland D. K., Sniffen B., Warady B. A. Robinow syndrome: report of two patients with cystic kidney disease. Clin Genet. 1990 Jun;37(6):481–484. doi: 10.1111/j.1399-0004.1990.tb03534.x. [DOI] [PubMed] [Google Scholar]
  33. Wilson C., Goberdhan D. C., Steller H. Dror, a potential neurotrophic receptor gene, encodes a Drosophila homolog of the vertebrate Ror family of Trk-related receptor tyrosine kinases. Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7109–7113. doi: 10.1073/pnas.90.15.7109. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. van Bokhoven H., Celli J., Kayserili H., van Beusekom E., Balci S., Brussel W., Skovby F., Kerr B., Percin E. F., Akarsu N. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000 Aug;25(4):423–426. doi: 10.1038/78113. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES