Results 121 to 130 of about 78,624 (321)

Condylar Aplasia and Hypoplasia: A Rare Case

open access: yesCase Reports in Dentistry, 2013
Aplasia of condyle is very rare, when this condition not seen as a part of a syndrome. We report a case of condylar aplasia on the right side and hypoplasia on the left side in a 21-year-old female.
P. Shivhare   +4 more
semanticscholar   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Aplasia del arco posterior del Atlas [PDF]

open access: yes, 1993
Las anomalías congénitas del arco posterior del Atlas son poco frecuentes. Se presenta el caso de una paciente, que tras sufrir un accidente se diagnosticó de aplasia parcial del atlas. Esta lesión es considerada como una variante anatómica benigna de la
Giménez Ronda, A.   +2 more
core  

Management of thymoma‐associated pure red cell aplasia: A novel use of blood substitute HBOC‐201 in a Jehovah’s Witness [PDF]

open access: gold, 2019
Maria M. Rubinstein   +5 more
openalex   +1 more source

Thymoma associated with hypogammaglobulinaemia and pure red cell aplasia

open access: yesecancermedicalscience, 2013
Thymomas are neoplasias that begin in the thymus and develop in the anterior mediastinum. They are commonly associated with a variety of systemic and autoimmune disorders, such as pure red cell aplasia, hypogammaglobulinaemia, pancytopaenia, collagen ...
Juan Briones   +8 more
semanticscholar   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips   +8 more
wiley   +1 more source

A Case of Atrial Fibrillation from Cyclosporine Toxicity [PDF]

open access: yes, 2004
We describe the unusual occurrence of atrial fibrillation immediately after a seizure in a young patient with cyclosporine toxicity. The new onset atrial fibrillation was triggered by high levels of cyclosporine and possibly facilitated by the ...
Ahmad, Masood, Sanghi, Pramod
core   +2 more sources

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon   +5 more
wiley   +1 more source

Morphometric analysis of different frontal sinus and nasal septum patterns using cone beam computed tomography – A retrospective study

open access: yesJournal of Dr. NTR University of Health Sciences
Background: Forensic science speaks for the unidentified individuals. Human identification can be done through reconstruction group and comparison methods.
D. Nihitha   +5 more
doaj   +1 more source

Neonatal Arnold–Chiari II Malformation: An Imaging‐Focused Case Report

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Arnold‐Chiari Malformation Type II (CM‐II) is a serious congenital hindbrain disorder marked by the displacement of the cerebellum and brainstem downwards through the foramen magnum. CM‐II is frequently linked with myelomeningocele and hydrocephalus.
Mohammad Alashqar   +8 more
wiley   +1 more source

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