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Cochlear Implants International
An Interdisciplinary Journal for Implantable Hearing Devices
Volume 12, 2011 - Issue 1
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Case reports

Cochlear implantation in Donnai–Barrow syndrome

Iain A BruceManchester Royal Infirmary, UKCorrespondence[email protected]
,
Stephen J BroomfieldManchester Royal Infirmary, UK
,
Lise HendersonManchester Royal Infirmary, UK
,
Kevin M J GreenManchester Royal Infirmary, UK
&
Richard T RamsdenManchester Royal Infirmary, UK
Pages 60-63 | Published online: 18 Jul 2013

References

  • Avunduk A.M., Aslan Y., Kapicioglu Z., Elmas R. 2000. High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. Acta Ophthalmologica Scandinavica, 78: 221–222.
  • Chassaing N., Lacombe D., Carles D., Calvas P., Saura R., Bieth E. 2003. Donnai-Barrow syndrome: four additional patients. American Journal of Medical Genetics, 121A: 258–262.
  • Donnai D., Barrow M. 1993. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia and sensorineural deafness: a newly recognised autosomal recessive disorder. American Journal of Medical Genetics, 47: 679–682.
  • Gripp K.W., Donnai D., Clericuzio C.L., McDonald-McGinn D.M., Guttenberg M., Zackai E.H. 1997. Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. American Journal of Medical Genetics, 68: 441–444.
  • Kantarci S., Al-Gazali L., Hill R.S., Donnai D., Black G.C.M., Bieth E., Chassaing N., Lacombe D., Devriendt K., Teebi A., Loscertales M., Robson C., Liu T., MacLaughlin D.T., Noonan K.M., Russell M.K., Walsh C.A., Donahoe P.K., Pober B.R. 2007. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nature Genetics, 39: 957–959.
  • Kantarci S., Ragge N.K., Thomas N.S., Robinson D.O., Noonan K.M., Russell M.K., Donnai D., Raymond F.L., Walsh C.A., Donahoe P.K., Pober B.R. 2008. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. American Journal of Medical Genetics, 146A: 1842–1847.
  • Patel N., Hejkal T., Katz A., Margalit E. 2007. Ocular manifestations of Donnai-Barrow syndrome. Journal of Child Neurology, 22: 462–464.
  • Pober B.R., Longoni M., Noonan K.M. 2009. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Research (Part A), 85(1): 76–81.

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