Eduardo Da Cás , Lucas V.L. Pires , Bianca D.W. Linnenkamp , Marcella C. Allegro , Rachel S. Honjo , Débora R. Bertola , Hiromi Aoi , Naomichi Matsumoto , Chong Ae Kim
{"title":"巴西首例克莱夫斯特拉综合征临床报告,包括半规管缺失可能是一种表型扩展。","authors":"Eduardo Da Cás , Lucas V.L. Pires , Bianca D.W. Linnenkamp , Marcella C. Allegro , Rachel S. Honjo , Débora R. Bertola , Hiromi Aoi , Naomichi Matsumoto , Chong Ae Kim","doi":"10.1016/j.ejmg.2024.104966","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease.</p></div><div><h3>Results</h3><p>seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. One specific patient presented bilateral agenesis of the semicircular canals, a very rare ear manifestation in Kleefstra syndrome, representing a possible phenotype expansion of the syndrome.</p></div><div><h3>Conclusion</h3><p>this report aims to promote awareness among physicians evaluating patients in a context of neurodevelopmental delay or congenital malformations, especially congenital heart defects. We also highlight a possible phenotype expansion of the syndrome, with a case of semicircular anomaly, not reported in this syndrome so far.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000582/pdfft?md5=371bdbb5d8d212248eacb6a51f55b3fc&pid=1-s2.0-S1769721224000582-main.pdf","citationCount":"0","resultStr":"{\"title\":\"The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion\",\"authors\":\"Eduardo Da Cás , Lucas V.L. Pires , Bianca D.W. Linnenkamp , Marcella C. Allegro , Rachel S. Honjo , Débora R. Bertola , Hiromi Aoi , Naomichi Matsumoto , Chong Ae Kim\",\"doi\":\"10.1016/j.ejmg.2024.104966\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease.</p></div><div><h3>Results</h3><p>seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. 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The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion
Objective
to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease.
Results
seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. One specific patient presented bilateral agenesis of the semicircular canals, a very rare ear manifestation in Kleefstra syndrome, representing a possible phenotype expansion of the syndrome.
Conclusion
this report aims to promote awareness among physicians evaluating patients in a context of neurodevelopmental delay or congenital malformations, especially congenital heart defects. We also highlight a possible phenotype expansion of the syndrome, with a case of semicircular anomaly, not reported in this syndrome so far.
期刊介绍:
The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.
Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :
• Dysmorphology and syndrome delineation
• Molecular genetics and molecular cytogenetics of inherited disorders
• Clinical applications of genomics and nextgen sequencing technologies
• Syndromal cancer genetics
• Behavioral genetics
• Community genetics
• Fetal pathology and prenatal diagnosis
• Genetic counseling.