Results 31 to 40 of about 5,376 (172)
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 +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Presenting Symptoms of Chiari Type I Malformation
Pediatric Neurology Briefs, 2009 Clinical and radiographic predictors of neurologic symptoms were investigated in a population-based retrospective study of 51 children identified with Chiari I malformation at the University of California, and Kaiser Department of Radiology, San ...
J Gordon Millichap
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Indian Journal of Neurosurgery, 2018 Introduction: Chiari malformation type I is a collection of hindbrain abnormalities, for which natural history of the disease process is not clear. The challenge is to identify which patients will benefit most from posterior fossa decompression.
Manish Jaiswal +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Proceedings of Singapore Healthcare, 2019 Type 1 Arnold–Chiari Malformation is associated with prolapse of the cerebellar tonsils into or below the level of the foramen magnum and is usually diagnosed in adults.
Mavis Miqi Teo
doaj +1 more source
Abnormalities in auditory evoked potentials of 75 patients with Arnold-Chiari malformations types I and II [PDF]
Arquivos de Neuro-Psiquiatria, 2006 OBJECTIVE: To evaluate the frequency and degree of severity of abnormalities in the auditory pathways in patients with Chiari malformations type I and II.
Paulo Sergio A. Henriques Filho +1 more
doaj +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, EarlyView.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Saudi Journal of Anaesthesia, 2011 Anesthetic technique in parturient with syringomyelia and Arnold-Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted.
Bensghir Mustapha +5 more
doaj +1 more source