Articles

Cases

Courses

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 continuously improved upon by countless contributing members. Our dedicated editors oversee each edit for accuracy and style. Find out more about articles.

Create new article

75 results found

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)

Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies. Radiographic features markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound. inte...

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...

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features. Clinical presentation It is characterized by many features which include: poikiloderma: characteristic rash, typically develops in infancy sparse hair, eyelashes, and/or ey...

Crouzon syndrome

Crouzon syndrome, also known as craniofacial dysotosis, is rare disorder characterized by premature craniosynostoses. Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull" shallow orbits with exophthalmos mid facial hypoplasia bifid uvula Gen...

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

Lethal omphalocele-cleft palate syndrome

Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterized by the association of omphalocele and cleft palate. Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition 1. History and etymolog...

Pallister Killian syndrome

Pallister-Killian syndrome (PKS) is an extremely rare chromosomal anomaly. Epidemiology It may be more prevalent in births from women of advanced age 4. Clinical presentation Phenotypic expression can significantly vary from multiple anomalies resulting in perinatal death to the more charact...

Chromosomal anomalies

There are a large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies. They can cause a variable degree of disability with outcomes ranging from no effect (in some balanced tra...

Congenital high airway obstruction syndrome

Congenital high airway obstruction syndrome or sequence (CHAOS) refers to a rare, often lethal, congenital laryngotracheal condition and is primarily characterized by obstruction to the fetal upper airway. Epidemiology Associations Fraser syndrome Pathology CHAOS can be of three possible ty...

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...

Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome l...

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...

Twin-to-twin transfusion syndrome

Twin-to-twin transfusion syndrome (TTTS), less commonly known as stuck twin syndrome, is a potential complication that can occur in a monochorionic twin pregnancy (either MCDA or MCMA). Epidemiology This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies, giving an est...

Sakati-Nyhan syndrome

The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly. Its main features include: craniofacial defects congenital limb abnormalities congenital heart defects History and etymology It w...

Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth and developmental delay failure to thrive t...

Fowler syndrome

Fowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition. Terminology Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting ...

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...

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...

Filtered (2)Done (clear)

+Systems

×Article Sections

+Sort By

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

Unable to process the form. Check for errors and try again.

Thank you for updating your details.