Results 51 to 60 of about 66,888 (302)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Frequency and distribution of developmental anomalies in the permanent teeth of a Turkish orthodontic patient population

Journal of Dental Sciences, 2011
Background/purpose: The aims of this study were to determine the frequency and distribution of developmental anomalies in the permanent teeth of a Turkish orthodontic patient population and determine the relationships between gender and dental anomalies.
Fatih Kazanci, Mevlut Celikoglu, Ozkan Miloglu, Ismail Ceylan, Hasan Kamak   +4 more
doaj   +1 more source

Prevalence of dental anomalies in different cleft lip and palate groups: A survey

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022
Introduction: Patients with orofacial clefts are usually associated with various dental anomalies. These dental aberrations pose a clinical challenge in treatment planning.
Ritu Sanjaykumar Somani, Dolly Patel, Mahesh Jain   +2 more
doaj   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

An evaluation of mesiodentes: A retrospective study with cone-beam computed tomography [PDF]

, 2018
Background: The mesiodens, located in the palatal midline between the two maxillary central incisors, is the most common type of supernumerary tooth. The aim of this study was to evaluate the distribution of mesiodentes according to shape, position, and ...
Akay, Gülsün, Güngör, Kahraman, Özdede, Meli̇h   +2 more
core   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Dental anomalies and their therapeutic implications: retrospective assessment of a frequent finding in patients with cleft lip and palate

BMC Oral Health, 2022
Background Orofacial clefts are characterized by a frequent occurrence of dental anomalies. Numerous studies demonstrate the high prevalence of dental aplasia, supernumerary teeth, and hypoplastic teeth in patients with cleft lip with/without cleft ...
A. K. Sander, E. Grau, A. K. Bartella, A. Kloss-Brandstätter, M. Neuhaus, R. Zimmerer, B. Lethaus   +6 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Prevalence of Dental Anomalies in Maxillary Lateral Incisors: An Institutional Cross-sectional Study from Karnataka [PDF]

Journal of Clinical and Diagnostic Research
Introduction: The majority of dental abnormalities are found in third molars, followed by permanent maxillary lateral incisors. The occurrence of these dental anomalies varies among different ethnic groups; hence, it is of prime importance for ...
C Varalakshmi, Surabhi Rairam, P Ratnakar, Veerendra Patil, Samanvitha Kanimilli, KV Neema   +5 more
doaj   +1 more source