Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey
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چکیده
منابع مشابه
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملELLIS-VAN CREVELD SYNDROME: REPORT OF A CASE IN AN ADULT PATIENT
Ellis-van Creveld syndrome is transmitted as an autosomal recessive trait. This syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large ASD. Patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted
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Jongwon Oh, M.D., Ju-Sun Song, M.D., Jong Eun Park, M.D., Shin Yi Jang, Ph.D., Chang-Seok Ki, M.D., and Duk-Kyung Kim, M.D. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, S...
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Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can tak...
متن کاملAnaesthetic management of patient with Ellis Van Creveld syndrome.
A known case of Ellis-Van Creveld Syndrome was scheduled for emergency repair of obstructed paraumblical hernia. We describe the anaesthetic management of the case with special reference to the classic physical and physiological manifestations of this syndrome present in our patient.
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2021
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.3919