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[Surgical treatment of patients with upper micrognatia caused by cleft lip and palate].
Stomatologiia (Mosk)
January 2025
Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.
Hypoplasia of the upper jaw to one degree or another inevitably occurs in patients with cleft lip and palate. The most difficult task is to fix skeletal deformity of the upper jaw, especially the discrepancy between its transversal dimensions due to the high risks of recurrence after treatment. One of the key stages of rehabilitation of this group of patients is orthodontics and surgical treatment aimed at eliminating functional and aesthetic problems of the dental system.
View Article and Find Full Text PDFIdentification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.
Front Genet
January 2025
Department of Endocrinology and Metabolic Diseases, Shandong First University Affiliated Central Hospital, Jinan, China.
Background: KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.
Methods And Results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis.
Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.
Cleft Palate Craniofac J
January 2025
College of Dentistry and Dental Clinics, University of Iowa, Iowa City, IA, USA.
Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.
Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.
Genetic Mutations Leading to Dento-Maxillofacial Abnormalities in Mice: A Systematic Review.
Oral Dis
December 2024
Department of Oral Health Sciences-Orthodontics, KU Leuven and Service of Dentistry, University Hospitals Leuven, Leuven, Belgium.
Introduction: To systematically review the available literature reporting on genetic mutations leading to dento-maxillofacial malformations in mice.
Materials And Methods: An electronic search was performed across Embase, PubMed, Web of Science, and Scopus databases up to May 2024, targeting all in vivo studies on gene mutations causing dento-maxillofacial deformities in mice. Studies reporting oral clefts were excluded.
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