Results 51 to 60 of about 31,523 (289)

Prevalence and Distribution of Developmental Dental Anomalies in Pediatric Patients

, 2017
Objective: The objective of this study was to evaluate the prevalence of dental anomalies in paediatric patients attending the Department of Paediatric Dentistry, Kirikkale University Faculty of Dentistry.
Sonmez, Isil Saroglu, Oba, Aylin Akbay, Işıl Saroğlu Sönmez, Aylin Akbay Oba, Merve Erkmen Almaz, Almaz, Merve Erkmen   +5 more
core   +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 Among the Pediatric Population at Abbasi Shaheed Hospital, Karachi, Pakistan: A Cross-Sectional Survey [PDF]

The International Journal of Frontier Sciences
Background: Pediatric dental anomalies refer to irregularities or abnormalities in the development, structure, or positioning of the teeth in the oral cavity of children.
Maryam Zafar, Aiman Shaikh, Maliha Mohsin   +2 more
doaj   +1 more source

Radiographic assessment of developing maxillary canine ectopia and its association with dental anomalies in the mixed dentition

, 2023
Reciprocal associations have been found to exist between various dental anomalies.1-14 Maxillary canine ectopia may, however, occur in dentitions without any ...
Hudson, APG, Harris, AMP, Johan, L, Mohamed, N   +3 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 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

Dental Anomalies and Occlusal Abnormalities in Patients with Cleft Lip and Palate

, 2006
The aims of this study were three-fold: (1) to detect the location of cleft, (2) to determine the distribution of clefts according to sex, and (3) to examine bilateral and unilateral clefts comparatively by assessing dental anomalies and occlusal ...
Servet Doğan, Ashlıhan M. Ertan-Erdinç, Banu Dinçer   +2 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source