Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome
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چکیده
منابع مشابه
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome
INTRODUCTION Ellis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES We report on a Saudi family with two affected children. Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. The most interesting findi...
متن کاملEllis-van Creveld Syndrome (chondro-ectodermal dysplasia) in two siblings.
Two male siblings aged 12 and 15 years (Figure 1) presented with growth retardation, limb abnormalities and, defective teeth and nail since childhood. There was no history of similar defects in other family members. On examination their height was 114 cm and 130 cm (expected height; 169 cm and 150 cm) respectively. There were hypoplastic and dystrophic nails, and microdontia and hypodontia on d...
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...
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ژورنال
عنوان ژورنال: International Journal of Surgery Case Reports
سال: 2017
ISSN: 2210-2612
DOI: 10.1016/j.ijscr.2017.08.022