Results 41 to 50 of about 833 (169)

How differences in anatomy and physiology and other aetiology affect the way we label and describe speech in individuals with cleft lip and palate

open access: yesInternational Journal of Language &Communication Disorders, Volume 59, Issue 6, Page 2181-2196, November/December 2024.
Abstract Background Speech in individuals with cleft lip and/or palate (CLP) is a complex myriad of presenting symptoms. It is uniquely associated with the structural difference of velopharyngeal insufficiency (VPI), together with a wide and heterogeneous range of other aetiologies which often co‐occur.
Valerie J Pereira, Debbie Sell
wiley   +1 more source

Craniovertebral junction malformation in Northeastern Brazil: the myth of the Dutch colonization Malformação da junção craniovertebral no Nordeste do Brasil: o mito da colonização Holandesa

open access: yesArquivos de Neuro-Psiquiatria, 2013
The high prevalence of craniovertebral junction malformation in Northeastern Brazil is historically associated with brachycephalic biotype (flat head), also common in this region.
Claudio Henrique Fernandes Vidal   +4 more
doaj  

LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene

open access: yesAging Cell, Volume 23, Issue 8, August 2024.
This study delves into LEM domain nuclear envelope protein 2 (LEMD2)‐associated progeroid syndrome, elucidating its phenotypic and molecular aspects in the first female and fourth reported case. In vitro experiments using patient‐derived cells and LEMD2‐downregulated HepG2 cells revealed pronounced nuclear envelope abnormalities.
Alyssia Matter   +8 more
wiley   +1 more source

Development of specific growth charts for children with Fanconi anemia

open access: yesAmerican Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract Patients with Fanconi anemia (FA) are often perceived to have poor growth when general population growth curves are utilized. We hypothesize that FA patients have unique growth and aimed to create FA‐specific growth charts. Height and weight data from ages 0 to 20 years were extracted from medical records of patients treated at the Fanconi ...
Crystal Barbus   +10 more
wiley   +1 more source

Evaluation of changes in posterior cranial fossa and cerebellum in patients with Chiari type 1 malformation

open access: yesFolia Morphologica
BACKGROUND: Chiari type I malformation (CMI) is a congenital or acquired condition characterized by the descent of the cerebellar tonsils 3–5 mm or more below the foramen magnum (FM).
Gulnur Bagci   +4 more
doaj   +1 more source

Anatomy and mobility in the adult cadaveric craniocervical junction 

open access: yesJournal of Morphology, Volume 285, Issue 7, July 2024.
The motivation of the present study was to understand the morphological and functional basis of motion in the adult craniocervical junction, in the hope to find morphological features accessible from medical imaging able to predict mobility. We compared a wide range of mobility variables extracted from an experimental setup, with the shape of the ...
Maxime Taverne   +8 more
wiley   +1 more source

Neurocranial growth in the OIM mouse model of osteogenesis imperfecta

open access: yesThe Anatomical Record, Volume 307, Issue 3, Page 581-591, March 2024.
Abstract Osteogenesis imperfecta (OI) is a disorder of type I collagen characterized by abnormal bone formation. The OI craniofacial phenotype includes midfacial underdevelopment, as well as neurocranial changes (e.g., macrocephaly and platybasia) that may also affect underlying nervous tissues.
Tooba S. Husain   +8 more
wiley   +1 more source

Somatosensory evoked potentials and cerebrospinal fluid flow in chiari malformation

open access: yes, 2019
Aim: Many studies reported that the degree of tonsillar herniation does not correlate with the severity of symptoms in Chiari Malformation Type 1 patients.
KIZMAZOĞLU, CEREN   +3 more
core   +1 more source

Braincase in Paleozoic sharks [PDF]

open access: yes, 2007
122 p. : ill. (some col.) ; 26 cm.Includes bibliographical references (p. 116-122).The concepts of platytrabia/platybasia and tropibasia/tropitrabia in gnathostomes are reviewed.
Maisey, John G.
core   +1 more source

Prevalência das malformações associadas à invaginação basilar e suas manifestações clínicas [PDF]

open access: yes, 2020
Objetivo: Identificar e avaliar a prevalência das malformações associadas à invaginação basilar (IB) e seus sinais e sintomas. Métodos: Revisão integrativa com pesquisa nas bases de dados da Literatura Latino-americana e do Caribe em Ciências da Saúde ...
Araújo, Milena Lima de   +2 more
core   +1 more source

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