We report on a 25-year-old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro-cardio-facial syndrome.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.32052 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Stress and telomere length in leukocytes: Investigating the role of GABRA6 gene polymorphism and cortisol.
Psychoneuroendocrinology
January 2025
Department of Experimental Clinical and Health Psychology, Ghent University, Ghent, Belgium. Electronic address:
Telomere length (TL) is considered a biomarker of aging, and short TL in leukocytes is related to age and stress-related health problems. Cumulative lifetime stress exposure has also been associated with shorter TL and age-related health problems, but the mechanisms are not well understood. We tested in 108 individuals whether shorter TL in leukocytes is observed in individuals with the GABRA6 TT genotype, which has been associated with dysregulation of hypothalamic-pituitary-adrenal axis activity (the main biological stress system) compared to the CC genotype.
View Article and Find Full Text PDFThe Association of Psychological Factors With Willingness to Share Health-Related Data From Technological Devices: Cross-Sectional Questionnaire Study.
JMIR Form Res
January 2025
Department of Medical and Clinical Psychology, Center of Research on Psychological Disorders and Somatic Diseases (CoRPS), Tilburg University, Tilburg, the Netherlands, 31 134662142.
Background: Health-related data from technological devices are increasingly obtained through smartphone apps and wearable devices. These data could enable physicians and other care providers to monitor patients outside the clinic or assist individuals in improving lifestyle factors. However, the use of health technology data might be hampered by the reluctance of patients to share personal health technology data because of the privacy sensitivity of this information.
View Article and Find Full Text PDFGrading systems and perineural invasion in oral squamous cell carcinoma - a disease-specific survival analysis.
Med Oral Patol Oral Cir Bucal
January 2025
Department of Oral Diagnosis, Piracicaba Dental School University of Campinas, 901, Limeira Avenue Postcode: 13414-903. Piracicaba-SP, Brazil
Background: Oral squamous cell carcinoma (OSCC) is an aggressive cancer, with prognosis influenced by clinical variables as well grading systems and perineural invasion (PNI), which are associated to poorer outcomes, including higher rates of recurrence and metastasis. This study aims to evaluate OSCC using three grading systems and assess the impact of PNI and clinicopathologic parameters on patient survival.
Material And Methods: Eighty-one primary OSCC samples were analyzed.
Vascular endothelial growth factor immunoexpression in oral paracoccidioidomycosis.
Med Oral Patol Oral Cir Bucal
January 2025
School of Dentistry. Federal University of Alfenas Rua Gabriel Monteiro da Silva, 700. Centro 37130.001. Alfenas, Minas Gerais, Brazil
Background: Paracoccidioidomycosis (PCM) is a systemic mycosis endemic and limited to Latin America. Brazil is responsible for more than 80% of diagnosed cases in the world. Since PCM is not a notifiable disease, there are still no accurate data on its incidence in Brazil.
View Article and Find Full Text PDFImpact of risk factors in craniofacial mucormycosis.
Med Oral Patol Oral Cir Bucal
January 2025
Hospital Universitario "Dr. José Eleuterio González" Av. Dr. José Eleuterio González 235, Mitras Centro 64460 Monterrey, Mexico
Background: Craniofacial mucormycosis is a highly lethal infectious disease. This study aims to assess and analyze multiple variables, including clinical, socioeconomic, and biochemical markers, to identify and examine risk factors for mortality associated with this mycotic infection.
Material And Methods: A retrospective analysis was conducted on 38 patients who sought medical attention at the Otolaryngology and Head and Neck Surgery Division of a tertiary-level hospital in Monterrey, Mexico.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!