Articles
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31 results found
Article
Pelvic congestion syndrome
Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9 ) is a condition that results from retrograde flow through incompetent valves in ovarian veins resulting in pelvic varices and pelvic pain. It is a commonly missed and potentially treatable cause of chronic abdominopelvic pain...
Article
Androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS), also known as testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
Epidemiology
The incidence may vary depending on whether it is co...
Article
Polycystic ovarian syndrome
Polycystic ovarian syndrome (PCOS), also known as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.
The Rotterdam criteria is used to make the diagnosis of PCOS and require any two of the following three criteria for the diagnosis, as well as the e...
Article
Hand-foot-genital syndrome
Hand-foot-genital syndrome (previously known as hand-foot-uterus syndrome) refers to a rare hereditary disorder with abnormalities involving the hands, feet and uterus.
Hand-foot-genital syndrome should not be confused with:
hand-foot syndrome (sickle cell disease)
hand-foot-and-mouth disease...
Article
Hereditary breast and ovarian cancer syndrome
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Article
Asherman syndrome
Asherman syndrome, also known as uterine synechiae, is a condition characterized by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium and is often associated with infertility.
Epidemiology
There is a tendency for the condition to develop soon aft...
Article
VACTERL association
VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.
Epidemiology
The estimated incidence is 1 in 10,000-40,000 births 3.
Associations
Several conditions have features in common with...
Article
Herlyn-Werner-Wunderlich syndrome
Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterized by Müllerian duct anomalies (MDA) associated with mesonephric duct anomalies 3. This entity is also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It is not to be confused with the Wunderlich syndrom...
Article
Turner syndrome
Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.
Epidemiology
The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with...
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
HELLP syndrome
HELLP syndrome is a pregnancy-related condition and is an abbreviation for:
haemolysis
elevated liver enzymes and
low platelets
It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.
Epidemiology
The estimated inciden...
Article
Mendelson syndrome
Mendelson syndrome, also known as peptic pneumonia, refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia.
Clinical presentation
This syndrome develops rapidly (2-12 hours after aspiration) and within hours the patient may beco...
Article
Meigs syndrome
Meigs syndrome is defined as the presence of ascites and pleural effusion in association with a benign, usually solid ovarian tumor, most commonly an ovarian fibroma.
Epidemiology
Most presentations occur in post-menopausal women with a peak incidence at ~70 years old. It is extremely rare in ...
Article
Ovarian hyperstimulation syndrome
Ovarian hyperstimulation syndrome (OHSS) is a complication of controlled ovarian stimulation, which is an assisted reproduction technique used for in vitro fertilisation (IVF). Rarely, it may also occur spontaneously in pregnancy (see below). It consists of ovarian enlargement with an extravascu...
Article
Donohue syndrome
Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive form of insulin resistance syndrome with a distinctive phenotype including elfin facies and severe disturbances of glucose homeostasis. It is universally fatal in early childhood.
Epidemiology
Donohue syndrome is very...
Article
Juberg-Hayward syndrome
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterized by the association of the following:
growth retardation
microcephaly
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
thumb anomal...
Article
Fitz-Hugh-Curtis syndrome
Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID).
Epidemiology
The preva...
Article
Noonan syndrome
Noonan syndrome (NS) is a genetically and phenotypically heterogeneous non-aneuploidic congenital RASopathy. Affected individuals can bear some clinical features similar to that of Turner syndrome.
Epidemiology
The estimated incidence is at ~1 in 1000-2500 10. As individuals have normal numbe...
Article
Hydrolethalus syndrome
Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of the fetus which include:
midline malformations
cleft lip + / - palate
CNS malformations
fetal hydrocephalus
agenesis of the corpus callosum
Dandy-Walker malformation
absent midline ...
Article
Russell-Silver dwarfism
Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism.
Epidemiology
Associations
single umbilical artery
Clinical presentation
intrauterine growth restriction: tends to give an asymmetrical IUGR
postnatal growth restriction
relatively large calvarium: ...