A Case Report on Fraser Syndrome and Cryptophthalmos Relying on Speech and Language Features

Document Type : Case Report

Author

BSc in Speech Therapy, Semnan, Iran.

Abstract

Introduction: Fraser syndrome is an autosomal recessive inherited disorder with multiple anomalies and its prevalence is 11 percent of live births. The classic form of this syndrome is described with cryptophthalmos, syndactly, throat abnormalities, apparatus urogenitalis, facial disfigurement, lack of eyebrows, hypertelorism, cleft palate, suspensions, flat nose, anus closed, umbilical hernia, pubis diastasis, mental retardation, and heart and skeletal defects. Reported cases in Iran are very limited and none of the cases reported have addressed the patient's speech and language features.
History: The patient was a girl was born in 2009 in Shahrood. She was given birth after a term pregnancy and via vaginal delivery. Parents were referred to the Speech Therapy Clinic in 2013 after complaining about the girl’s lack of attention and delay in speech and language development. The present study reports on the clinical observations on the progress of the patient's behavior and language over the two years.
Discussion and Conclusion: Speech and language disorders are associated with the features of the syndrome. Due to lack of formal evaluation tests in this area, understanding its characteristics can lead to provision of intervention strategies.

Keywords

Main Subjects

References

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The Scientific Journal of Rehabilitation Medicine
Volume 6, Issue 1
March and April 2017
Pages 289-298

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History

  • Receive Date: 02 February 2016
  • Revise Date: 17 April 2016
  • Accept Date: 02 May 2016
  • First Publish Date: 21 March 2017

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