Congenital cleft earlobe is a rare clinical entity that results from failure of fusion during embryologic development. In contrast to acquired earlobe clefts, congenital defects are usually associated with tissue loss, thereby complicating surgical repair. The authors present the case of a 22-year-old female with a triple-lobe type of congenital cleft earlobe and discuss their technique for repair.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1097/SCS.0000000000004788 | DOI Listing |
Cureus
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 PDFIn Vitro Cell Dev Biol Anim
January 2025
Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250012, Shandong, China.
Cleft lip and palate (CL/P) are prevalent congenital anomalies with complex genetic causes. The G874A mutation of T-box transcription factor 22 (TBX-22) gene is notably associated with CL/P, while the underlying mechanism remains to be clarified. Studies have shown that the restriction of epithelial-mesenchymal transformation (EMT) process in medial edge epithelial cells (MEEs) is crucial for CL/P development.
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
January 2025
Univ. Lille, CHU Lille, Oral and Maxillofacial Surgery Department, Lille, France.
Introduction: Stickler syndrome is a rare genetic collagen disorder known for its ophthalmological abnormalities. However, there are several other associated facial features. The aim of this study is to review the literature on the various oral and maxillofacial manifestations of Stickler syndrome.
View Article and Find Full Text PDFCraniofacial development gives rise to the complex structures of the face and involves the interplay of diverse cell types. Despite its importance, our understanding of human-specific craniofacial developmental mechanisms and their genetic underpinnings remains limited. Here, we present a comprehensive single-nucleus RNA sequencing (snRNA-seq) atlas of human craniofacial development from craniofacial tissues of 24 embryos that span six key time points during the embryonic period (4-8 post-conception weeks).
View Article and Find Full Text PDFVan der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!