Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810919 | PMC |
http://dx.doi.org/10.4103/1735-3327.178213 | DOI Listing |
Indian J Plast Surg
December 2024
Department of Plastic, Hand and Reconstructive Microsurgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
Postaxial polydactyly (PAP) in the form of rudimentary soft tissue masses is quite common. Management involves ligation or surgical excision. Rarely do literature discussions cover complex variants in which the extra finger is fully developed.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
December 2024
Reproductive Medicine Center, Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, China; Hubei Clinical Research Center for Reproductive Medicine, Shiyan, Hubei, China; Shiyan Key Laboratory of Reproduction and Genetics (Renmin Hospital, Hubei University of Medicine), Shiyan, Hubei, China; Biomedical Engineering College, Hubei University of Medicine, Shiyan, Hubei, China; Hubei Key Laboratory of Embryonic Stem Cell Research, Shiyan, Hubei, China. Electronic address:
Objective: This study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities.
Methods: A fetus with multiple malformations detected during mid-pregnancy was terminated. Trio whole exome sequencing (Trio-WES) was performed on the fetal tissue.
J Surg Case Rep
October 2024
Department of Orthopedic Surgery, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0374, Japan.
Pediatr Pulmonol
November 2024
Nemours Children's Hospital, Wilmington, Delaware, USA.
Adv Exp Med Biol
June 2024
Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!