Ellis-van Creveld syndrome presenting in the second decade
نویسندگان
چکیده
منابع مشابه
Ellis-van Creveld syndrome presenting in the second decade.
To cite: Yanamandra U, Sharma P, Ramamoorthy A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212209 DESCRIPTION A 19-year-old woman born to non-consanguineous parents presented with primary amenorrhoea. Examination revealed a 1.3 m tall patient with disproportionate dwarfism (arm-span/height—ratio: 0.78); she was polydactyl with hypoplastic/dystrophi...
متن کاملEllis-van Creveld Syndrome.
A 21 years old male with typical features of Ellis-Van Creveld Syndrome is presented for its rarity. This is the second living case being reported from India.
متن کاملEllis-Van Creveld syndrome
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound exami...
متن کاملEllis-van Creveld Syndrome
1K Rajendra, 2TK Ramamurthy, 3K Gopikrishna, 4GV Ramachandra Reddy, 5K Srinivas, 6S Patil 1Postgraduate Student, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 2,4Professor, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 3Senior Lecturer, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Ka...
متن کاملEllis-van Creveld syndrome and dyserythropoiesis.
Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hemat...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2015
ISSN: 1757-790X
DOI: 10.1136/bcr-2015-212209