id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_y3benx4kovg3xgszqxz5j2dibu	Chih-Ping Chen	Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling	2010.0	6	.pdf	application/pdf	3370	398	63	Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling Ellis-van Creveld (EvC) syndrome (OMIM 225500), or Objective: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with Key Words: Ellis-van Creveld syndrome, EVC, EVC2, prenatal diagnosis, ultrasound Both EvC syndrome and Weyers acrodental dysostosis are caused by hedgehog signaling defects in the primary cilia due to mutations in the prenatally detected postaxial polydactyly, thoracic narrowness, short limbs, and endocardial cushion defects. prenatally detected postaxial polydactyly, thoracic narrowness, short limbs, and endocardial cushion defects. Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with	./cache/work_y3benx4kovg3xgszqxz5j2dibu.pdf	./txt/work_y3benx4kovg3xgszqxz5j2dibu.txt