The authors described anomalous development of maxillary lateral incisor non-yet published in stomatologic literature. Diagnostics and clinical findings of the anomaly and the prognosis of the affected tooth they based on the description of six longitudinal observed patients. The principal symptom of the anomaly is the disturbance of time-plan of the tooth development. Terms of the tooth mineralization, the time of eruption and root completion cannot be included either in deciduous or in permanent dentition. The tooth is the only product of the dental lamina; it has no predecessor or successor. Frequent disturbances of the eruption pathway result often in anomalous position of the tooth. Taking into consideration the fact that the anomaly appeared always in connection with hypodontia syndrome, it is possible to consider it to be the symptom of hypodontia syndrome. This fact is more significant as it enables to establish the diagnosis of hypodontia syndrome already in early deciduous dentition.
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AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine ParaThyroid Center, Norman, Oklahoma.
Background/objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome.
View Article and Find Full Text PDFClin Oral Investig
December 2024
Postgraduate in Oral Surgery, University of Florence, Florence, Italy.
Background: Tooth agenesis refers to the absence of one or more of the deciduous or permanent teeth. Tooth agenesis results from a series of disrupted reciprocal ectodermal mesenchymal interactions taking place during the early stages of tooth development.
Methods: A narrative literature review was performed to describe the main genetic syndromes associated with tooth agenesis.
Eur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Olof Palmes Allé 49, 8200 Aarhus N, Denmark.
Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants.
View Article and Find Full Text PDFJ Child Neurol
January 2025
Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy.
View Article and Find Full Text PDFHandb Clin Neurol
September 2024
Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC, Canada; Departments of Pediatrics and Human Genetics, McGill University, Montréal, QC, Canada. Electronic address:
Hypomyelinating leukodystrophies are a subset of genetic white matter diseases characterized by insufficient myelin deposition during development. MRI patterns are used to identify hypomyelinating disorders, and genetic testing is used to determine the causal genes implicated in individual disease forms. Clinical course can range from severe, with patients manifesting neurologic symptoms in infancy or early childhood, to mild, with onset in adolescence or adulthood.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!