Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance [PDF]
Archives of Plastic Surgery, 2014 Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS).
Nicole E Spruijt +2 more
exaly +7 more sources
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans [PDF]
Scientific Reports, 2023 Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull.
Ilyas Ahmad +15 more
doaj +6 more sources
Basilar invagination in osteogenesis imperfecta—Case report [PDF]
Radiology Case ReportsOsteogenesis imperfecta (OI) is a genetic disorder characterized by defective type I collagen synthesis, leading to fragile bones and skeletal deformities.
Aviyani Aviyani, Raisa Mahmudah
doaj +2 more sources
Chiari 1 malformation with Platybasia [PDF]
Romanian Neurosurgery, 2023 Background. The incidence of CM-I is estimated to be 1/1,000 births. In rare cases, CM-I is complicated by associations with other malformations of the craniocervical junction, including mainly Basilar invagination (BI). Chiari malformation (CM) is characterized by a congenital malformation of the posterior cranial fossa with cerebellar tonsils ...
Abdurrahman Mousa +3 more
openaire +2 more sources
Management of basilar invagination: A historical perspective [PDF]
Journal of Craniovertebral Junction and Spine, 2016 For a long time the terms basilar invagination and platybasia were used interchangeably. Basilar invagination has been defined as a prolapse of the vertebral column into the spinal cord.
Abhidha Shah, Elena Serchi
doaj +2 more sources
Cranio-vertebral transition assessment by magnetic resonance imaging in a sample of a northeast Brazilian population [PDF]
Arquivos de Neuro-Psiquiatria, 2017 Platybasia and basilar invagination are important alterations of the cranial-vertebral transition. Neuroimaging-based platybasia parameters include the Welcker basal angle, distance between the apex of the odontoid and Chamberlain’s line, and the clivus ...
Heitor Cabral Frade +5 more
doaj +5 more sources
3-D simulation of posterior fossa reduction in Chiari I [PDF]
Arquivos de Neuro-Psiquiatria, 2016 We proposed a 3D model to evaluate the role of platybasia and clivus length in the development of Chiari I (CI). Using a computer aided design software, two DICOM files of a normal CT scan and MR were used to simulate different clivus lengths (CL) and ...
Yvens Barbosa Fernandes +5 more
doaj +6 more sources
A rare case of pancraniosynostosis observed in a historical skull from the 19 th century cranial collection named “Królestwo Polskie” (“Polish Kingdom”) [PDF]
Anthropological Review, 2021 Rare diseases are a challenge in paleopathological research, mainly due to the ambiguity of skeletal signs, bad preservation state of the material, and lack of the reference material.
Cieślik Agata +3 more
doaj +2 more sources
mouse model of osteogenesis imperfecta [PDF]
The Anatomical Record, Volume 307, Issue 3, Page 581-591, March 2024., 2023 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 ...
Jason M. Organ +17 more
core +3 more sources
Analysis of Craniocervical Abnormalities in Osteogenesis Imperfecta during Growth [PDF]
Applied SciencesOsteogenesis Imperfecta (OI) is a genetic disease characterized by osteopenia and bone fragility in which the craniocervical junction is also affected.
Manuel Joaquín De Nova-García +2 more
doaj +2 more sources