Results 51 to 60 of about 66,087 (258)

Delayed Dental Development in Children With Non-Syndromic Hypodontia: A Cross-Sectional Study Using a Machine Learning Approach to Dental Age Estimation. [PDF]

Orthod Craniofac Res
ABSTRACT Objectives To investigate the influence of non‐syndromic hypodontia on radiographic dental development and to estimate dental age in children with bilateral mandibular agenesis using a machine learning approach. Materials and Methods This retrospective cross‐sectional study included 626 children aged 6–15 years (311 with dental agenesis, 315 ...
Crosnier M, Decaup PH, Santos F, Cavare A.   +3 more
europepmc   +2 more sources

Partial Pericardial Agenesis

Methodist DeBakey Cardiovascular Journal, 2023
Congenital absence of the pericardium is a rare anomaly, affecting the left pericardium (86%) more than the right, with male predilection distribution (3:1). In the majority of cases, the condition is asymptomatic. We describe a case of a 55-year-old female with a history of chronic hypercapnic respiratory failure secondary to restrictive lung disease ...
Akila Bersali, Faisal Nabi
openaire   +3 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Agenesis of the Maxillary First Permanent Molars: A Clinical and Radiographic Evaluation of a Rare Case

Journal of Dentistry Indonesia, 2017
Congenitally missing first permanent maxillary molars is a rare finding in any given population. The reported prevalence rate of maxillary first molar agenesis ranges from 0.2 to 1.5%. The exact aetiology of this dental anomaly is not clearly documented.
Sreekanth kumar Mallineni, Azher Mohiuddin Maohmmad, Anil Kumar patil, Ranvitha Priya Kodali   +3 more
doaj   +1 more source

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A Unique Presentation of Concomitant Hypo-Hyperdontia in Seven Year Old Child: A Rare Report

Journal of Dentistry Indonesia, 2015
Numerical variations of teeth are common. Hypodontia considered being presence of less number of teeth in normal complement while extra teeth to normal dentition are considered as hyperdontia.
Sreekanth K. Mallineni, Azher Mohiuddin, Anil K. Patil, Ranvitha P. Kodali   +3 more
doaj   +1 more source

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

HLXB9 gene expression, and nuclear location during in vitro neuronal differentiation in the SK-N-BE neuroblastoma cell line [PDF]

, 2014
Copyright @ 2014 Leotta et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Brundo, MV, Federico, C, Leotta, CG, Saccone, S, Tosi, S   +4 more
core   +1 more source

Tracheal agenesis

Indian Journal of Otolaryngology and Head and Neck Surgery, 2005
Tracheal agenesis, though seemingly rare and fatal to date, has been reported with increasing frequency. Establishment of the diagnosis necessitates a high index of suspicion in an infant in respiratory distress an birth, without a cry and in whom intubation is difficult. We report a case of tracheal agenesis.
A A, Joshi, R A, Bradoo, S, Kadam, S, Binoy, J, Mondkar, A, Kalgutkar   +5 more
openaire   +3 more sources