European Journal of Pediatrics

, Volume 151, Issue 8, pp 586–589 | Cite as

Robinow syndrome in two siblings from consanguineous parents

  • D. F. Schorderet
  • S. Dahoun
  • I. Defrance
  • D. Nusslé
  • M. A. Morris
Medical Genetics


A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).

Key words

Robinow syndrome Autosomal recessive occurrence Chromosomal abnormalities Y chromosome 


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  1. 1.
    Bain MD, Winter RM, Burn J (1986) Robinow syndrome without mesomelic ‘brachymelia’: a report of five cases. J Med Genet 23:350–354PubMedGoogle Scholar
  2. 2.
    Butler MG, Wadlington WB (1987) Robinow syndrome: report of two patients and review of literature. Clin Genet 31:77–85PubMedGoogle Scholar
  3. 3.
    Fisher EMC, Beer-Romero P, Brown LG, Middley A, McNeil JA, Lawrence JB, Willard HF, Bieber FR, Page DC (1990) Homologous ribosomal protein genes on the human X and Y chromosome: escapes from X inactivation and possible implications for Turner syndrome. Cell 63:1205–1218CrossRefPubMedGoogle Scholar
  4. 4.
    Giedion A, Battaglia GF, Bellini F, Fanconi G (1975) The radiological diagnosis of the fetal-face (=Robinow) syndrome (mesomelic dwarfism and small genitalia) Helv Paediatr Acta 30:409–423Google Scholar
  5. 5.
    Glaser D, Herbst J, Roggenkamp K, Tùnte W, Lenz W (1989) Robinow syndrome with parental consanguinity. Eur J Pediatr 148:652–653CrossRefPubMedGoogle Scholar
  6. 6.
    Goodfellow P, Banting G, Sheer D, Roppers HH, Caine A, Ferguson-smith MA, Povey S, Voss R (1983) Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:346–349CrossRefPubMedGoogle Scholar
  7. 7.
    Gough NM, Gearing DP, Nicola NA Baker E, Pritchard M, Callen DF, Sutherland GR (1990) Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 345:734–736CrossRefPubMedGoogle Scholar
  8. 8.
    Israel H, Johnson GF (1988). Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. J Craniof Genet Dev Biol 8:63–73Google Scholar
  9. 9.
    Keitges EA, Schorderet DF, Gartler SM (1987) Linkage of the steroid sulfatase gene to the sex-reversed mutation of the mouse. Genetics 116:465–468PubMedGoogle Scholar
  10. 10.
    Maresh MM (1955) Linear growth of long bones of the extremities. Am J Dis Child 89:725–742Google Scholar
  11. 11.
    Nazer H, Gunasekaran TS, Sakati NA, Nyhan WL (1990) Concurrence of Robinow syndrome and Criggler-Najar syndrome in two offspring of first cousins. Am J Med Genet 37:516–518CrossRefPubMedGoogle Scholar
  12. 12.
    Pagon RA (1987) Diagnostic approach to the newborn with ambiguous genitalia. Pediatr Clin North Am 34:1019–1031PubMedGoogle Scholar
  13. 13.
    Robinow M, Silverman FN, Smith HD (1969) A newly recognized dwarfing syndrome. Am J Dis Child 117:645–651PubMedGoogle Scholar
  14. 14.
    Saal HM, Greestein RM, Weinbaum PJ, Poole AE (1988) Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. Am J Med Genet 30:709–718PubMedGoogle Scholar
  15. 15.
    Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaumer R, Page DC (1989) ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell 57:1247–1258CrossRefPubMedGoogle Scholar
  16. 16.
    Schönau E, Pfeiffer RA, Schweikert HU, Böwing B, Schott G (1990) Robinow or “fetal face syndrome” in a male infant with ambiguous genitalia and androgen receptor deficiency. Eur J Pediatr 149:615–617PubMedGoogle Scholar
  17. 17.
    Schorderet D, Aebischer P (1985) SYNDROC: microcomputer-based differential diagnosis of malformation patterns. Arch Dis Child 60:248–251PubMedGoogle Scholar
  18. 18.
    Shprintzen RJ, Goldberg RB, Saenger P, Sidoti EJ (1982) Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. Am J Dis Child 135:594–597Google Scholar
  19. 19.
    Teebi AS (1990) Autosomal recessive Robinow syndrome. Am J Med Genet 35:64–68CrossRefPubMedGoogle Scholar
  20. 20.
    Vallée L, Van Nerom PY, Ferraz FG, Delecour M, Maroteaux P, Farriaux JP, Fontaine G (1982) Syndrome de Robinow à transmission dominante. Arch Fr Pediatr 39:447–448PubMedGoogle Scholar
  21. 21.
    Vera-Roman JM (1973) Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. Am J Dis Child 126:206–208PubMedGoogle Scholar
  22. 22.
    Wadia RS, Shirole DB, Dikshit MS (1978) Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome) J Med Genet 15:123–127PubMedGoogle Scholar
  23. 23.
    Wadlington WB, Tucker VL, Schimke N (1973) Mesomelic dwarfsim with hemivertebrae and small genitalia (the Robinow syndrome) Am J Dis Child 126:202–205PubMedGoogle Scholar
  24. 24.
    Webber SA, Wargowski DS, Chitayat D, Sandor GGS (1990) Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome. Am J Med Genet 37:519–521CrossRefPubMedGoogle Scholar
  25. 25.
    Wiens L, Strickland DK, Sniffen B, Warady BA (1990) Robinow syndrome: report of two patients with cystic kidney disease. Clin Genet 37:481–484PubMedGoogle Scholar
  26. 26.
    Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connally L, Neiswanger K, Shapiro LJ (1988) The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromsome during primate evolution. Cell 55:1123–1135CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • D. F. Schorderet
    • 1
  • S. Dahoun
    • 1
  • I. Defrance
    • 2
  • D. Nusslé
    • 3
  • M. A. Morris
    • 1
  1. 1.Department of Microbiology and GeneticsUniversity of Geneva and Hôpital cantonal UniversitaireGenevaSwitzerland
  2. 2.Department of PaediatricsUniversity of Geneva and Hôpital cantonal UniversitaireGenevaSwitzerland
  3. 3.Department of Paediatric RadiologyUniversity of Geneva and Hôpital cantonal UniversitaireGenevaSwitzerland

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