8 results found
Article
Achondroplasia
Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.
Epidemiology
It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominan...
Case
Achondroplasia
Published
22 May 2008
80% complete
MRI
Article
Achondroplastic base of skull abnormalities
Achondroplasia is the most common cause of short-limb dwarfism. For a general discussion, see the generic article on achondroplasia.
As the skull base forms by endochondral ossification whereas the skull vault by membranous ossification, there is a marked discrepancy in relative size as the sku...
Article
Spinal stenosis
Spinal stenosis is a condition in which a portion of the spinal canal narrows to the point at which it can exert pressure on the nerves that travel through the spine.
Spinal stenosis is not to be confused with foraminal stenosis, which is the narrowing of the foramina with subsequent compressio...
Article
Torticollis
Torticollis, also known as wry neck, is a clinical finding of head tilt with or without rotational spinal malalignment. It is not a diagnosis in itself and there are a wide range of underlying conditions. It is most common in the pediatric age group.
Pathology
Torticollis can be acute (<1 wee...
Article
Frontal bossing
Frontal bossing is a calvarial radiographic feature where the front of the skull appears protruding anteriorly. It is best appreciated on a sagittal or lateral image.
Pathology
This feature can be seen in many conditions (in alphabetical order):
18q syndrome
acromegaly
achondroplasia
ß-tha...
Article
Tentorial angle
The tentorial angle is measured between a line connecting the nasion with the tuberculum sellae and the angle of the straight sinus. Normally it should measure between 27° and 52°.
Abnormalities of the posterior fossa or base of skull can alter this. For example, this angle is elevated in achon...
Article
Platybasia
Platybasia is characterized by abnormal flattening of the skull base as defined as a base of skull angle over 143º.
Clinical presentation
Platybasia alone does not usually cause symptoms unless it is associated with basilar invagination 6.
Pathology
Etiology
congenital
achondroplasia
Dow...
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