Results 41 to 50 of about 4,159 (185)
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Development and assessment of reliable patient-based hypodontia website
Patient Preference and Adherence, 2018 Rozana Valiji Bharmal, Ama Johal Oral Bioengineering (Orthodontics), Institute of Dentistry, Bart’s and The London School of Medicine & Dentistry, Queen Mary College, London, UK Background: The aim of the study was to develop a high-quality ...
Bharmal RV, Johal A
doaj
Loose Anagen Hair Syndrome: A Scoping Review
Pediatric Dermatology, EarlyView.ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey +12 more
wiley +1 more source
Periodontology 2000, EarlyView.Abstract Background Patients suffering from stage IV periodontitis are often characterized by pathologic tooth migration, drifting, flaring, posterior bite collapse, and secondary occlusal trauma (case type 2). Many times, these patients seek treatment because of functional and esthetic demands.
Karin Jepsen +3 more
wiley +1 more source
BMC Oral Health, 2023 Background Nonsyndromic cleft lip and/or without cleft palate (NSCL/P) with or without hypodontia is a common developmental aberration in humans and animals.
Norliana Ghazali +4 more
doaj +1 more source
Linear Cutaneous and Craniofacial Anomalies in a Female Infant
JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Equine Veterinary Journal, Volume 58, Issue 6, Page 1621-1626, November 2026.Abstract Background Ossifying fibromas are uncommon in horses and complete surgical excision with premaxillectomy, maxillectomy or mandibulectomy is recommended. Piezosurgery has been previously used in equines only in one study. Objective To report a case of ossifying fibroma treated with piezosurgery and to describe its follow‐up.
G. Forni +3 more
wiley +1 more source
Česká Stomatologie a Praktické Zubní Lékařství, 2012 Background: Tooth agenesis means absence or incomplete development of tooth. It is a common human anomaly, which according to Online Mendelian Inheritance in Man database affects approximately 20% of the population.
L. Gábrlíková
doaj +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source