Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

28 results found
Article

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS), also known as the testicular feminisation 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 i...
Article

Asherman syndrome

Asherman syndrome, also known as uterine synechiae, is a condition characterised 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 af...
Article

Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS) refers to the development of a perihepatitis in association with pelvic inflammatory disease (PID).  Epidemiology The prevalence in adults with mild to moderate PID (gonorrhoic) may approximate 4% 10. The prevalence may be higher in genital tuberculosis 12. It ...
Article

Goodman syndrome

Goodman syndrome is a type of acrocephalopolysyndactyly (often considered type IV). It is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. The syndrome is inherited as an autosomal re...
Article

Greig cephalopolysyndactyly syndrome

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare a pleiotropic, multiple congenital anomaly syndrome.  It is primarily characterized by: polydactyly-polysyndactyly: pre-axial polydactyly (most common 2) or mixed pre- and post-axial polydactyly true ocular hypertelorism macrocephal...
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

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by 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 canc...
Article

Herlyn-Werner-Wunderlich syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterised 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 syndro...
Article

Hydrolethalus syndrome

Hydrolethalus syndrome is a rare lethal genetic syndrome characterised by multiple developmental defects of fetus which include  midline malformations cleft lip + / - palate CNS malformations fetal hydrocephalus agenesis of the corpus callosum Dandy-Walker malformation absent midline stru...
Article

Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised 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

Klinefelter syndrome

Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterised by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births. Clinical presentation the testes are normal prior to puberty and small in post pubertal testes...
Article

Lowe syndrome

Lowe syndrome (also known as the the oculocerebrorenal syndrome of Lowe) is a multi-system disorder characterised by anomalies primarily affecting the eyes, nervous system, and kidneys. Pathology It is an extremely rare, pan-ethnic, x-linked disease, with estimated prevalence in the general po...
Article

McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease
Article

Mendelson syndrome

Mendelson syndrome or peptic pneumonia refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia. Pathology The etiologic agents is believed to be aspiration of acidic stomach contents, other compounds, e.g. bile, may also play a rol...
Article

Neu-Laxova syndrome

Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype. Clinical features The clinical spectrum can be quite wide and includes: dermal / cutaneous severe skin restriction ichthyosis decreased fetal movement marked intrauterine gro...
Article

Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome. Clinical presentation Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarise the clinical feat...
Article

Ovarian vein syndrome

Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicoses of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian vein crosses the ureter.
Article

Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. This along with Down syndrome (T21) and Edward syndrome (T18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.  Epidemiology The es...
Article

Pelvic congestion syndrome

Pelvic congestion syndrome is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is one of commonly missed and potentially treatable cause of chronic abdominal or pelvic pain.  Epidemiology It tends to be more common in multiparous, premenopausal wome...
Article

Polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.  The diagnosis is made on the combined clinical, biochemical and sonographic grounds. The revised 2003 ASRM/ESHRE Rotterdam consensus cri...
Article

Robinow syndrome

Robinow syndrome is a rare heterogenous genetic disorder with at least two distinct forms. Clinical spectrum The syndrome can affects several systems which include: mesomelic limb shortening: mesomelia hemivertebrae characteristic facies anomalies fetal facies hypertelorism 3 frontal bos...
Article

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by mental retardation, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical pres...
Article

Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome characterised by: intrauterine growth restriction: tends to give an asymmetrical IUGR postnatal growth restriction relatively large calvarium: pseudohydrocephalus clinodactyly/clinobrachydactyly of the small finger a typical triangular type fa...
Article

Sampson syndrome

Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments. Clinical presentation The patient may present with non-specific abdominal pain. Radiographic features At laparoscopy, they are typi...
Article

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise of a rare group of severe osteochondrodysplasias. There are four major recognised types present: type I: Saldino-Noonan type type II:: Majewski type type III: Verma-Naumoff type type IV: Beemer-Langer type There may also be other very rare t...
Article

SHORT syndrome

SHORT syndrome refers to an acronym which primarily comprises of the following features: S: short stature H: hyperextensibility of joints and/or inguinal hernia O: ocular depression R: Rieger anomaly T: teething delay In a addition to these there can be numerous associated minor features w...
Article

Turner syndrome

Turner syndrome, also referred as 45X, is the most common of 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 45X abor...
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. Pathology The acronym VACTERL derives from: V: vertebral an...

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