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This clinical report presents a 7-year-old patient with ectodermal dysplasia and a newly identified ectodysplasin A (EDA) gene mutation (c.965 T>C). A removable partial denture combined with a complete denture was provided after considering the relevant factors. Based on digital smile design, resin crowns were fabricated to restore the cone-shaped teeth esthetically. Facial scan parameters and maxillofacial landmark localization on cone beam computed tomography (CBCT) images were combined for the registration of jaw relation, and a Gothic arch was subsequently 3-dimensionally printed for verification. Ultimately, dentures with accurate occlusion and satisfactory retention were delivered for this young patient with inadequate bone volume and poor fit that markedly improved his esthetics and function.
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http://dx.doi.org/10.1016/j.prosdent.2024.07.026 | DOI Listing |
Hua Xi Kou Qiang Yi Xue Za Zhi
August 2025
Dept. of Pediatric Dentistry, Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University & Guang dong Provincial Key Laboratory of Stomatology, Guangzhou 510055, China.
Ectodermal dysplasia is a group of hereditary diseases characterized by developmental defects of ectodermal structures. Its oral manifestations mainly center on congenital missing teeth, abnormal tooth morphology, and maxillofacial bone developmental disorders, which seriously affect the masticatory function, maxillofacial development, and mental health of affected children. In this article, the multidimensional diagnostic strategy system for children with ectodermal dysplasia and the related progress of early oral prosthodontic treatment methods were systematically reviewed to provide references for clinicians in the diagnosis and treatment of children with ectodermal dysplasia.
View Article and Find Full Text PDFJ Med Case Rep
August 2025
Department of Pediatric Dentistry, Region Västernorrland, Sundsvall, Sweden.
Background: Keratitis-ichthyosis-deafness syndrome is a rare congenital disorder resulting from mutations in the GJB2 gene located on chromosome 13. It is classified among the ectodermal dysplasias, a group of conditions that affect structures derived from the ectoderm. While oral and dental anomalies are frequently reported, hypodontia (congenitally missing teeth) has only been mentioned in two prior cases.
View Article and Find Full Text PDFNed Tijdschr Geneeskd
August 2025
Amsterdam UMC,afd. Dermatologie, Amsterdam.
Neurocutaneous dysesthesia manifests as abnormal sensations, such as itching, pain, or burning, often without visible skin lesions. The condition is caused by peripheral or central nerve damage or compression. There are many different forms of neurocutaneous dysesthesia, depending on the location and the nerves involved.
View Article and Find Full Text PDFIndian J Dent Res
August 2025
Department of Pediatric and Preventive Dentistry, Manav Rachna Dental College, MRIIRS, SDS, Faridabad, Haryana, India.
Rationale: Ectodermal dysplasia is a genetic condition characterised by atypical development of organs derived from the embryonic ectoderm, such as teeth, nails, hair and sweat glands.
Clinical Signs: The most prevalent oral manifestation is hypodontia, which involves the absence of some or all primary and permanent teeth. Consequently, individuals with this condition often require dental prosthetic interventions during their formative years.
Interdiscip Cardiovasc Thorac Surg
September 2025
Department of Chest Wall Surgery, Guangdong Second Provincial People's Hospital, Guangzhou, 510422, China.
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare and serious genetic condition; its incidence in adult populations is even rarer. A 25-year-old male had a 10-year history of chest wall deformity and progressive dyspnoea. A complex chest wall reconstruction, along with the excision of bone tumours, was performed in view of critical hypoxia.
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