81 results found
Article
Anterior vertebral body beaking
Anterior vertebral body beaking occurs in a number of conditions and may emanate from the central portion or the lower third of the vertebral body.
Middle third
Morquio syndrome 1 (middle for Morquio)
Lower third
Hurler syndrome 2
achondroplasia 3
congenital hypothyroidism (formerly, creti...
Article
Skeletal dysplasia
Skeletal dysplasia (also known as osteochondrodysplasia) refers to any abnormality in bone formation. There is a very wide clinicopathological spectrum and any part of the skeleton can be affected.
Epidemiology
The overall prevalence is estimated at ~2 per 10,000 live births 3.
Pathology
Typ...
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
Macrocephaly
Macrocephaly is a clinical and radiological term that refers to a generalized increase in the size of the cranial vault.
Terminology
This slightly differs from the term megalencephaly which means an increase in the size of the brain parenchyma.
Epidemiology
content pending
Clinical present...
Article
Pseudoachondroplasia
Pseudoachondroplasia (PSACH) refers to a type of osteochondrodysplasia.
Clinical presentation
It is characterized by:
rhizomelic dwarfism
limb and vertebral deformities
joint laxity
early onset osteoarthrosis
Furthermore, typically there is an absence of abnormality and a normal craniofac...
Article
Robinow syndrome
Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.
Terminology
Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8.
Epidemiolo...
Article
Acetabular angle
The acetabular angle, also known as the Sharp angle 6, is a radiographic measurement most commonly used when evaluating for potential developmental dysplasia of the hip (DDH). It is most useful in patients who have started to ossify the epiphysis since ossification diminishes the usefulness of u...
Article
Patella baja
Patella baja, also known as patella infera, is an abnormally low lying patella, which is associated with restricted range of motion, crepitations, and retropatellar pain. If longstanding, extensor dysfunction may ensue with significant morbidity.
Pathology
It is seen in a variety of clinical s...
Article
Basilar invagination
Basilar invagination, also called basilar impression, is a congenital or acquired craniocervical junction abnormality where the tip of the odontoid process projects above the foramen magnum.
Terminology
The following terms are often used interchangeably because they describe upwards migration...
Article
Long bone metaphyseal cupping (differential)
Long bone metaphyseal cupping is most likely due to the local oligemia from thrombosis in the terminal epiphyseal arteries to the epiphyseal plate, induced by prolonged regional immobilization 7.
The differential diagnosis of long bone metaphyseal cupping includes:
Common
normal variant
re...
Article
Bilateral megalencephaly
Bilateral megalencephaly refers to megalencephaly affecting both cerebral hemispheres.
Pathology
Associations
achondroplasia
acromegaly
Alexander disease
Canavan disease
mucopolysaccharidoses
neurofibromatosis type 1 (NF1)
Proteus syndrome
Tay-Sachs disease
tuberous sclerosis (TS)
va...
Article
Bullet-shaped vertebra
Bullet-shaped vertebra, also known as ovoid vertebra, refers to the anterior beaking of the vertebral body.
It is seen in the following conditions:
mucopolysaccharidosis (Morquio disease, Hurler disease)
achondroplasia
congenital hypothyroidism
progressive pseudorheumatoid dysplasia 4
Wils...
Article
Thanatophoric dysplasia
Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.
Epidemiology
The estimated incidence is around 1:25,000-50,000 3.
Associations
polyhydramnios 4
Pathology
Subtypes
There are two recognized...
Article
Narrow fetal thorax
A narrow fetal thorax on antenatal ultrasound can be present with a number of anomalies which include:
achondrogenesis
campomelic dysplasia
homozygous achondroplasia
Jarcho-Levin syndrome
Jeune syndrome - asphyxiating thoracic dysplasia
Russell-Silver dwarfism
short rib polydactyly syndro...
Article
Ilizarov apparatus
The Ilizarov apparatus (aka Ilizarov frame) is an external metallic orthopedic fixation device used to length or reshape limbs from congenital deformity or following injury. It acts through the slow bone extension and soft tissues including nerves, blood vessels and muscles.
Uses
bone lengthe...
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
Posterior vertebral scalloping (mnemonic)
A useful mnemonic to remember the differential diagnoses for posterior vertebral scalloping is:
SALMON
Mnemonic
S: spinal cord tumor (e.g. astrocytoma, ependymoma, schwannoma)
A: achondroplasia, acromegaly
L: Loeys-Dietz syndrome (and other connective tissue disorders)
M: Marfan's syndrome...
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...
Article
Megalencephaly
Megalencephaly is a disorder characterized by an abnormally large brain. It is primarily a proliferative disorder of embryonic origin. It may involve all or part of the cerebral hemispheres and can be bilateral or unilateral. It is often associated with polymicrogyria or agyria.
Terminology
...
Article
Congenital syndromes associated with enlarged ventricles
Congenital ventriculomegaly can have a large number of syndromic associations.
Common
acrocephalosyndactylies
Apert syndrome
Pfeiffer syndrome
acrocephalopolysyndactylies
Crouzon syndrome
achondroplasia
fetal alcohol syndrome
lissencephaly
osteopetrosis
Sotos syndrome
X-linked hyd...
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