We report on 2 sisters and one brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. Four other relatives have only mild dental anomalies. Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations. Cause is unknown.
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http://dx.doi.org/10.1002/ajmg.1320360207 | DOI Listing |
Vet Rec
January 2025
Department of Small Animals Diagnostic Imaging, École Nationale Vétérinaire d'Alfort, Maisons-Alfort, France.
Background: The aim of this study was to characterise the computed tomographic (CT) findings in domestic rabbits with clinically suspected rhinitis and compare them with CT findings in rabbits without clinical signs of rhinitis.
Methods: CT images of rabbits that underwent a CT of the head were retrospectively reviewed and any CT abnormalities were described. Statistical analysis was performed to detect any association between the CT findings and clinical signs of rhinitis, and also to assess if there was any association between rhinitis and otitis media, otitis externa or dental disease.
J Hum Genet
January 2025
Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, China.
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, known causal genes account for only approximately 6% of patients, indicating the need to discover more pathogenic genes. Association tests demonstrated an association between common variants in SHROOM3 and HFM (P = 1.
View Article and Find Full Text PDFRadiology
January 2025
From the Rush University Medical Center, 1620 W Harrison St, Chicago, IL 60612 (B.H.M., F.G., H.W.A.A., S.G.D., C.D.D., M.A.M.); and University of Texas Health Science Center, Houston, Tex (X.R.Z.).
A 38-year-old previously healthy male patient presented with left-sided facial pain over the prior 5 weeks. He first noticed the pain while washing and applying pressure to his face. The pain was described as shock-like, sharp and shooting, and radiating along the left cheek and temple.
View Article and Find Full Text PDFCureus
December 2024
Obstetrics and Gynecology, Shalamar Medical and Dental College, Lahore, PAK.
Introduction Congenital malformations are a major cause of perinatal morbidity and mortality in developing countries and are assuming greater importance than ever before. They affect a variety of organ systems and various etiologies have been identified in literature including Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections, exposure to pollutants, consumption of tobacco and alcohol, and advanced maternal age. In developing countries, diagnosis is frequently delayed which leads to poorer outcomes.
View Article and Find Full Text PDFTrauma Case Rep
February 2025
Department of Otorhinolaryngology Head and Neck Surgery, Faculty of Medicine Universitas, Indonesia.
Introduction: The prevalence of maxillofacial fractures is rising due to increased road traffic accidents, necessitating prompt and effective management, especially in cases of panfacial fractures. The primary objective in treating such fractures is to restore occlusion and stabilize midface buttresses and pillars.
Case Report: This article presents the case of a 56-year-old male who sustained panfacial fractures following a road accident, exhibiting symptoms including facial pain and nosebleeds.
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