A CASE REPORT ON FRASER SYNDROME AND CRYPTOPHTHALMOS RELYING ON SPEECH AND LANGUAGE FEATURES

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EBRAHIMI MOAGHANI RAHELEH

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: SCIENTIFIC JOURNAL OF REHABILITATION MEDICINE Year:2017 | Volume:6 | Issue:1 Page(s): 289-298

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Information Journal Paper

Title

A CASE REPORT ON FRASER SYNDROME AND CRYPTOPHTHALMOS RELYING ON SPEECH AND LANGUAGE FEATURES

Author(s)

EBRAHIMI MOAGHANI RAHELEH | Issue Writer Certificate

Keywords

FRASER YNDROMEQ1

CRYPTOPHTHALMOSQ1

LANGAUGEQ2

SPEECHQ3

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.

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