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Case Reports

Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family

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Pages 65-68 | Received 01 Mar 2012, Accepted 10 May 2012, Published online: 14 Jun 2012

REFERENCES

  • Pashayan H, Pruzansky S, Putterman A. A family with blepharo-naso-facial malformations. Am J Dis Child 1973;125:389–393.
  • Teebi AS. Nablus mask-like facial syndrome. Am J Med Genet 2000;95:407–408.
  • Allanson JE. A second family with belepharo-naso-facial syndrome. Clin Dysmorphol 2002;11:191–194.
  • Sommer A, Young-Wee T, Frye T. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 1983;15(1):71–77.
  • Stoll C, Terzic J, Fischbach M. A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome. Genet Couns 1999;10:337–343.
  • Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, et al. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. Eur J Med Genet 2009;52:140–144.
  • Shieh JT, Aradhya S, Novelli A, et al. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A 2006;140:1267–1273.
  • Sommer A, Bartholomew DW. Craniofacial-deafness-hand syndrome revisited. Am J Med Genet A 2003;123:91–94.

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