Cri du Chat Syndrome: a Case Report with Recurrent Pneumonia and Chronic Stridor
Introduction Cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). It mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. Case Report We present...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2015-10-01
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| Series: | International Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://ijp.mums.ac.ir/pdf_5143_ba05ba919800f13eaf62330f660e836d.html |
| Summary: | Introduction Cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). It mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. Case Report We present here a one year old child who did not presented with typical features but presented with recurrent pneumonia with chronic stridor since early infancy. On evaluation we found short flabby epiglottis and we did karyotyping which showed 5P deletion syndrome. Conclusion Cri du chat syndrome can be presented with atypical features like chronic stridor and recurrent pneumonia without having typical cat like cry. Early diagnosis is necessary for proper counselling of parents and treatment of the patient. |
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| ISSN: | 2345-5047 2345-5055 |