Our objective is to collect data and information for a better care and follow up in Cri du Chat patients. We conducted a literature review in August 2017 and then discuss the outcomes within the ABC (Associazione Bambini Cri du Chat, Italian CdC families support group). A proposal for clinical, laboratory and imaging work up should be performed at various ages in CdC patients. Follow up and rehabilitation should continue lifelong as some improvements can be obtained also in older ages and not to lose acquired skills.
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| http://dx.doi.org/10.4081/pr.2019.7839 | DOI Listing |
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Children (Basel)
December 2024
Department of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, Greece.
A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral-motor dysfunctions.
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Department of Pediatric Otolaryngology, Children's Health Ireland at Temple Street, Dublin, Ireland.
Laryngeal anatomical variations in Cri du Chat syndrome remain incompletely characterized in the medical literature, with few published photographic documentations. We present a case of a 20-month-old male with confirmed 5p15 deletion who presented with congenital inspiratory stridor and dysphagia. Videofluoroscopic evaluation at 13 months demonstrated aspiration of thin liquids.
View Article and Find Full Text PDFFrom phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.
Eur J Pediatr
December 2024
Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Article Synopsis
- Genetic syndromes have been extensively studied for their clinical signs and underlying mechanisms, but gaps remain in understanding specific aspects like vocal production in conditions such as Cri du chat syndrome (CdCS).
- A study aimed to analyze the vocal characteristics of 29 CdCS patients aged 4 to 21 by recording their pronunciations of the vowels [a], [i], and [u], as well as counting from 1 to 10.
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Front Genet
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University of Pittsburgh, Pittsburgh, PA, United States.
Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.
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