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Progressive Pre-Eruptive Coronal Resorption Associated With Enamel Degeneration: A Case Series.
J Dent Child (Chic)
September 2024
Department of Orthodontics, University of Marburg School of Dentistry, Marburg, Germany.
The purpose of this article is to present three cases of a rare phenomenon called pre-eruptive coronal resorption (PCR), which occurs in teeth with enamel degeneration. In the first case, the enamel defects occurred due to ectodermal dysplasia, which represents the first documented case of a patient with ectodermal dysplasia who underwent PCR. In the other two cases, the enamel defects occurred due to amelogenesis imperfecta.
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Indian J Plast Surg
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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.
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Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described.
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Professor (Pediatrics), Army Hospital (Research & Referral), Delhi Cantt, India.
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
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