Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family
نویسندگان
چکیده
منابع مشابه
Ellis-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 کاملChondroectodermal dysplasia (Ellis-Van Creveld syndrome: A case report
Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.
متن کاملEllis-van Creveld Syndrome: A Case Report
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. 'Six-fingered dwarfism' (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dys...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2017
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000480458