A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.243 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.
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.
View Article and Find Full Text PDFLaryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.
Laryngoscope
December 2024
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.
- Results showed notable differences in vocal qualities based on age and gender, with older males exhibiting the most pronounced roughness and asthenia, highlighting the link between voice production and biological or clinical traits.
Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.
Front Genet
October 2024
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.
Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.
Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.
Int J Mol Sci
October 2024
Pediatric Unit, Castelli Hospital, 28921 Verbania, Italy.
Salivary gland pleomorphic adenoma (SGPA) is the most common type of benign epithelial tumor; it is observed more commonly in females (with a female-to-male ratio of 1.43:1), and the age at diagnosis ranges between 40 and 59 years, with only 2% of cases diagnosed before age 18. Cri du Chat (CdC) is a rare syndrome caused by deletions of various sizes in the short arm of chromosome 5.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!