Articles
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229 results found
Article
≤11 ribs (differential)
≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including:
Down syndrome (trisomy 21)
campomelic dysplasia
kyphomelic dysplasias
asphyxiating thoracic dysplasia (Jeune syndrome)
short rib polydactyly syndromes
trisomy 18
chromosome 1q21.1 deletion...
Article
18q deletion syndrome
18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
Article
Aase-Smith syndrome
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Epidemiology
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases.
Clinical presentation
congenital hyp...
Article
Abdominal migraine
Abdominal migraine is a syndrome that presents as recurrent episodes of severe paroxysmal abdominal pain, coupled with vasomotor symptoms, nausea, and emesis that lasts for at least 1 hour 3. Historically it has tended to be a pediatric diagnosis, but it is now increasingly seen in adults. It is...
Article
Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.
Clinical presentation
A few of the clinical features of this syndrome are:
syndactyly
zygomatic hypoplasia
delayed speech
microtia
hypoplastic nipples
excessive ...
Article
Acrocephalosyndactyly
Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
Pathology
While there can be some overlap in features, they can be primarily classified into the following major su...
Article
Acrodysotosis
Acrodysotosis, also known as Arkless-Graham syndrome, Maroteaux-Malamut syndrome or acrodysplasia, is a rare genetic disorder affecting bone growth.
Epidemiology
The true incidence is not known. There is no known gender predilection. The condition is often detected in early childhood.
Clinica...
Article
Adams-Oliver syndrome
Adams-Oliver syndrome is a rare disorder characterized by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects. It may be accompanied by orofacial and cardiac malformations 6.
Pathology
Associations
polymicrogyria: may be associated with ...
Article
Aicardi-Goutières syndrome
Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...
Article
Aicardi syndrome
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).
Terminology
Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named ...
Article
Alagille syndrome
Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder.
Clinical presentation
Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.
Genetics
Alagille syndrome is inhe...
Article
Alice in Wonderland syndrome
Alice in Wonderland syndrome, also known as Todd syndrome, is a rare condition affecting the sensory inputs in the brain.
Epidemiology
Alice in Wonderland syndrome most common in children with over two-third of cases occurring in the pediatric demographic 1.
Clinical presentation
Alice in Wo...
Article
Alpers syndrome
Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.
Epidemiology
Alpers syndrome is incredibl...
Article
Angelman syndrome
Angelman syndrome refers to a genetic and neurodevelopmental condition principally affecting the central nervous system.
Epidemiology
The reported estimated incidence can variable ranging from around 1 in 20,000 to 1 in 12,000 live births. No definite gender predilection has been described.
C...
Article
Antley-Bixler syndrome
Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.
Epidemiology
It is a very rare condition with only 50 cas...
Article
Apert syndrome
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
Epidemiology
The estimated incidence is 1 case per 65-80,000 pregnancies.
Risk factors
increased paternal age has been proposed 6
Associations
CNS ...
Article
Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Article
Asplenia syndrome
Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome.
Epidemiology
There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates 4.
Associations
severe/complex congenital heart disease (50%), especially cyanotic ...
Article
Atelosteogenesis
Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine.
Pathology
Subtypes
atelosteogenesis type I (boomerang dysplasia)
atelosteogenesis type II
atelosteogenesis type III 4
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