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Articles

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31 results found

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...

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 affected fet...

McKusick Kaufman syndrome

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

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...

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...

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, 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...

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system. Epidemiology Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...

Neu-Laxova syndrome

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

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...

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...

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...

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: ...

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...

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...

Ovarian vein syndrome

Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein (ovarian venous varix) causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicosities of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian v...

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized 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 type...

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 addition to these there can be numerous associated minor features whi...

Klinefelter syndrome

Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized 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 te...

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...

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 ...

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