The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24159
Abstract: Primary ciliary dyskinesia (PCD) and cri du chat syndrome (CdCS) are distinct disorders that can co‐occur due to a common genetic locus on chromosome 5p. Chronic respiratory symptoms associated with PCD can occur in CdCS… read more here.
Keywords: cri chat; ciliary dyskinesia; chat syndrome; primary ciliary ... See more keywords
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Hematology"
DOI: 10.1007/s12185-020-02909-7
Abstract: Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS… read more here.
Keywords: myelodysplastic syndromes; chat syndrome; ring chromosome; cri chat ... See more keywords
Profiles of amino acids and biogenic amines in the plasma of Cri‐du‐Chat patients
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pharmaceutical and Biomedical Analysis"
DOI: 10.1016/j.jpba.2017.03.034
Abstract: &NA; Cri‐du‐chat syndrome (CDCS) is a rare innate disease attributed to chromosome 5p deletion characterized by a cat‐like cry, craniofacial malformation, and altered behavior of affected children. Metabolomic analysis and a chemometric approach allow description… read more here.
Keywords: amino acids; amino acid; cdcs; cri chat ... See more keywords
Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2025-110940
Abstract: Purpose Facial dysmorphism is a feature of many monogenic disorders and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associated with specific syndromes remains challenging. Here, we… read more here.
Keywords: chat syndrome; genotype phenotype; facial morphometry; nosology ... See more keywords
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2018-0173
Abstract: Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated… read more here.
Keywords: region 5p15; biology; cri chat; cdcs ... See more keywords
Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12020421
Abstract: Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to… read more here.
Keywords: review; chat syndrome; analytical literature; cri chat ... See more keywords
Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms251910664
Abstract: 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… read more here.
Keywords: age; sgpa; tumor; adenoma ... See more keywords