Results 71 to 80 of about 1,787,415 (342)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

A Case Report of Dilacerated Crown of a Permanent Mandibular Central Incisor

Frontiers in Dentistry, 2017
Trauma to primary teeth can lead to devastating sequels in development of permanent successors. The disturbance may range from enamel hypoplasia and/or hypo-calcification to arrest of dental bud development.
Behnam Bolhari, Salma Pirmoazen, Ensieh Taftian, Somayeh Dehghan   +3 more
doaj  

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Facial Skeletal Pattern Analysis in Patients with Maxillary Canine Impaction or Missing Lateral Incisor [PDF]

Journal of Mashhad Dental School
Background: The space caused by an impacted maxillary canine or missing lateral incisor, can lead to malocclusion and dental crowding. This study aimed to examine the skeletal pattern of patients with impaction or missing of maxillary canine or lateral ...
Azam Ahmadian Yazdi, Ali Bagherpour, Aysan Hamzeh, Mahboobe Dehghani, Iman Shiezadeh   +4 more
doaj   +1 more source

Management of an anomalous maxillary lateral incisor fused with a supernumerary tooth and a coronal dens invaginatus

Endodontology, 2022
An abnormal union of two or more tooth germs in the development process results in fusion of teeth. Such clinical situations present a diagnostic dilemma and a challenge in treatment planning.
Lalit Kumar Likhyani, Monika Choudhary, Suneet Khandelwal, Yohan Chacko   +3 more
doaj   +1 more source

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis [PDF]

, 2016
Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing ...
Amadori, Francesca, Bardellini, Elena, Borsani, Giuseppe, De Petro, Giuseppina, Ferrari, Lia, Giacopuzzi, Edoardo, Majorana, Alessandra, Salvi, Alessandro   +7 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

A case report of complete tooth transposition associated with a primary canine

The Journal of Qazvin University of Medical Sciences, 2015
Tooth transposition is a developmental anomaly and the canine is the most common involved tooth in the transposition. This anomaly occurs in the maxilla more than the mandible and has not been reported simultaneously in both jaws and in primary teeth ...
E. Moravej Salehi, H. Moaven
doaj  

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Risk of developing palatally displaced canines in patients with early detectable dental anomalies: a retrospective cohort study

Journal of Applied Oral Science
The early recognition of risk factors for the occurrence of palatally displaced canines (PDC) can increase the possibility of impaction prevention. Objective To estimate the risk of PDC occurrence in children with dental anomalies identified early ...
Daniela Gamba GARIB, Melissa LANCIA, Renata Mayumi KATO, Thais Marchini OLIVEIRA, Lucimara Teixeira das NEVES   +4 more
doaj   +1 more source