Classification systems for midline abnormalities of the brain and skull are varied and constantly changing as the underlying embryology and genetics are uncovered. A relatively simple and robust classification system is based on the location of abnormalities, always remembering that midline abno...
Clear cell sarcomas of the kidney (CCSK) are a rare mesenchymal renal tumor that account for ~5% of primary renal neoplasms in the pediatric population 1.
Clear cell sarcoma of the kidney is the second most common primary malignant pediatric renal neoplasm after Wilms tumor, with...
Cleft palate is a type of facial cleft. It can occur in two main etiologically different forms:
in association with a cleft lip: cleft lip +/- palate (much commoner)
on its own: isolated cleft palate (rarer)
Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4.
large head, with large fontanelles with delayed closure
Clothing artifacts, like jewelry artifacts, are a regular feature on imaging examinations, especially plain radiographs, but in general are recognized for what they are, either at the time the image is taken by the radiographer, or later by the reporting radiologist. The radiographer will often ...
CLOVES syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...
The acronym COACH describes a syndrome associated with:
C - cerebellar vermis defect (Joubert syndrome)
O - oligophrenia
A - ataxia
C - coloboma
H - hepatic fibrosis
There only as little as 11 cases having been reported in the English medical literature.
A coalition is a joining of two bones that are normally discrete 1. It is usually a congenital abnormality. The bridge between the bones is initially fibrous, then gradually becomes cartilaginous, finally ossifying. Symptoms tend to arise as the coalition forms a synostosis, which is usually fro...
Coarctation of the aorta (CoA) refers to a narrowing of the aortic lumen.
Coarctations account for between 5-8% of all congenital heart defects. They are more frequent in males, M:F ratio of ~2-3:1.
Varies accordingly to the degree of stenosis and the assoc...
Cobb's collar (also known as a Moormann's ring or congenital narrowing of the bulbar uerthra) is a membranous stricture of the bulbar urethra just downstream of the external urethral sphincter. It is sometimes referred to as a type III posterior urethral valve, and does not maintain a connection...
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
It is characterized by a numb...
Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.
Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome.
It occurs more frequently in females (with a M:F of ~4:1).
One of the most typical features is absence o...
COL4A1 brain small-vessel disease is an autosomal dominant monogenic COL4A1-related disorder that primarily causes cerebral small vessel disease.
The exact prevalence is unknown, but the condition is likely under-diagnosed.
The clinical presentation is vari...
COL4A1-related disorders are a group of autosomal dominant disorders caused by a mutation in the COL4A1 gene.
The exact prevalence is unknown, but the group of disorders is considered to be under-recognized, especially asymptomatic variants 1.
The clinical ...
Coloboma is a collective term encompassing any focal discontinuity in the structure of the eye, and should not be confused with staphylomas, which are due to choroidal thinning.
Embryologically, colobomas are due to failure of closure of the choroidal fissure. The most common site o...
The colonic transit study is an older technique to estimate colonic transit time.
In constipation, it can help distinguish between slow colonic transit and a defecation disorder.
The patient ingests a number of radiopaque markers (plastic rings containing radiopaque ma...
Colpocephaly is a descriptive term for a disproportionate prominence of the occipital horns of the lateral ventricles. It can result from a wide range of congenital insults.
Patients may present with motor abnormalities, cognitive deficit, visual abnormalities, and seizur...
A useful mnemonic to remember the complications of pulmonary interstitial emphysema is that the most common ones begin with:
Computed bone age measurement refers to the automatic computer analysis of a left hand radiograph in order to estimate accurately bone age in cases of suspected growth delay.
Advanced digital processing of data from automatic computer analysis of the phalangeal/carpal bones and/or ep...
Computed tomography scanogram for leg length discrepancy assessment is performed in patients (children in most of the cases) with suspected inequality in leg length (anisomelia).
obtained images are typically anteroposterior (AP) scout views of the bilateral femurs and tibias
The condyle-C1 interval (CCI) is the measurement of the interval between condyle and C1 at four equidistant points on the joint surface in sagittal and coronal reconstructions of computed tomography.
The CCI is reported to have a high lateral symmetry in children 1. Used with a cut-off of 4 mm,...
Congenital adrenal hyperplasia (CAH) (also known as adrenogenital syndrome) is a form of adrenal hyperplasia related to a variety of autosomal recessive disorders in adrenal steroidogenesis; characterized by low cortisol, low aldosterone, and androgen excess.
Congenital aortic stenosis broadly refers to a congenital narrowing of the aortic lumen. Although the term can mean narrowing at any point, it often relates to a narrowing of the aortic valve. As a broad group, there can be some overlap with ascending aortic coarctation depending on the definiti...
Congenital cardiovascular anomalies are relatively common, with an incidence of up to 1% if small muscular VSDs are included. As a group, there is a much greater frequency in syndromic infants and in those that are stillborn.
Broadly, congenital cardiovascular anomalies ...
Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.
Incidence is ~3 per 100,000 in the United Kingdom 1. Although the incidence tends to be higher in areas with increased rates of congenital infec...
Congenital cerebral toxoplasmosis is a manifestation of congenital toxoplasmosis and refers to development of cerebral toxoplasmosis in the fetus through maternal transmission.
Please refer on congenital toxoplasmosis to a broad discussion on epidemiology and pathology.
Congenital cervical teratoma refers to a teratoma arising in the cervical region. They are thought to account for ~3% of teratomas in childhood/infancy 3.
The estimated occurrence in neonates is ~1:20,000-40,000 live births 8.
Most tumors are diagnosed at b...
Congenital cholesteatomas are identical to epidermoid cysts, differing only in name and location.
They are intraosseous inclusions of ectoderm, and are therefore comprised of keratin debris and cholesterol. Characteristically, they are located at the petrous apex. In contrast middle...
Congenital contractural arachnodactyly (CCA) (also known as Beals syndrome) is a rare connective tissue disorder that bears phenotypic similarities to Marfan syndrome, but is genetically distinct. Affected individuals have arachnodactyly, muscle contractures and ear anomalies, but without any oc...
Congenital cystic bronchiectasis is a rare entity, and as the name suggests is characterized by cystic bronchiectasis found in infancy 1. The term appears to have fallen out of favor, due to variable use in older literature. In most instances of congenital cystic bronchiectasis has what is now r...
Congenital cytomegalovirus infections result from intrauterine fetal infection by cytomegalovirus (CMV).
Cytomegalovirus is the most common cause of intrauterine infection and the most common cause of congenital infective and brain damage, occurring in 0.2-2.4% of live births.
Congenital diaphragmatic herniation (CDH) accounts for a small proportion of all diaphragmatic herniae. However, it is one of the most common non-cardiac fetal intrathoracic anomalies.
Congenital diaphragmatic hernias are seen in 1 of every 2000-4000 live births. 84% are left-side...
Congenital facial nerve aplasia is a rare condition where the patient presents with signs of facial nerve paralysis.
Patients present with unilateral or bilateral facial weakness characterized by facial asymmetry, incomplete closure of eyelid, deviation of angle of mouth ...
A congenital facial palsy is an uncommon cause of neonatal asymmetric crying facies, which are more frequently due to absence or hypoplasia of the depressor anguli oris muscle, often associated with other congenital anomalies.
Congenital facial palsy is reported with an incidence...
Congenital goiter is a rare cause of neck swelling in neonates and is demonstrated as diffuse/nodular thyroid gland enlargement.
It is a common endocrine disease in newborns and affects approximately 1:2000-4000 live births.
There may be a difficult vaginal...
A congenital granular cell myoblastoma (also known as congenital epulis) is a very rare benign tumor which classically presents in the fetal-neonatal population.
It occurs almost exclusively in females when it presents in the fetal-neonatal population although no such predilection...
Congenital hemangiomas are benign vascular tumors of childhood that are present at birth. They are mostly indistinguishable from infantile hemangioma on imaging but have distinct histological and clinical features.
While the majority are cutaneous or subcutaneous in nature, they can occur extra...
With the advent of echocardiography, and cardiac CT and MRI, the role of chest x-rays in evaluating congenital heart disease has been largely been relegated to one of historical and academic interest, although they continue to crop up in radiology exams. In most instances a definite diagnosis ca...
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.
CHAOS can be of three possible types 2:
complete laryngeal atresia without an...
Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular etiology.
Most children are asymptomatic at birth and are diagnosed after screening. In untreated congeni...
The group of the most common congenital infections are referred to by the mnemonic TORCH or STORCH. They usually cause mild maternal morbidity but are related to serious fetal consequences 4.
In cases where no serological, microbiological or immunological evidence of infection can be identified...
Congenital insensitivity to pain (CIP) refers to a group of rare hereditary sensory and autonomic neuropathies (HSANs) characterized by an inability to feel pain 1.
Although not clearly defined in the literature, congenital insensitivity to pain is not one specific diagnosis, but d...
Congenital limb amputation is the absence of a fetal limb or part of a limb that usually occurs due to disruption of vascular supply.
Congenital amputations occur in 0.5 (range 0.03-1) per 1000 live births 2.
They are slightly more common in the upper limb (60%) than ...
Congenital lobar overinflation (CLO), previously called congenital lobar emphysema, is a congenital lung abnormality that results in progressive overinflation of one or more lobes of a neonate's lung.
On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with o...
Congenitally corrected transposition of the great arteries, also known as levo- or L-loop transposition (L-TGA), is a rare cardiovascular anomaly with inversion of the ventricles and great arteries.
This anomaly comprises less than 1% of all congenital heart diseases 1,2,7.
Congenital megacalyces is an incidental finding which mimics hydronephrosis. It is a result of underdevelopment of the renal medullary pyramids with resultant enlargement of the calyces. It is more frequently seen in males.
The enlarged calyces predispose to stasis, infection and calculus forma...
A congenital (primary) megaureter encompasses causes of an enlarged ureter which are intrinsic to the ureter, rather than as a result of a more distal abnormality; e.g. bladder, urethra (see secondary megaureter). It includes:
obstructed primary megaureter
refluxing primary megaureter
Congenital muscular dystrophies are a heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia, delayed motor development, and early onset of progressive muscle weakness, confirmed with a dystrophic pattern on muscle biopsy.
There is a wid...
Congenital neuroblastoma is defined as neuroblastoma identified within a month of birth, and is divided into:
In most cases they present as stage 1, 2 or 4S (see neuroblastoma staging).
In 90% of cases fetal neuroblastomas arise...
Congenital portosystemic shunts are rare, extrahepatic or intrahepatic, anatomical abnormalities shunting blood from the portal venous system to the systemic venous system and, thus, avoiding passage through the hepatic acinus.
The term “portosystemic shunt” can be used to refer t...
Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.
Usually presents as a midclavicular swelling in the neonate or young child 1.
Congenital pseudoarthrosis of the clavicle is more commo...
Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two.
The etiology is unclear, however, ar...
Congenital pulmonary airway malformations (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. CPAMs are considered part of the spectrum of bronchopulmonary foregut malformations.
Until recently they were described as congenital cystic adeno...
Congenital pulmonary lymphangiectasia refers to congenital dilatation of the lymphatic system.
It typically presents in infancy. It may be isolated to lung or may be part of a generalized lymphangiectasia.
Congenital pulmonary stenosis (CPS) refers to congenital narrowing of the right ventricular outflow tract, pulmonary valve or pulmonary artery.
See pulmonary valve stenosis for a general discussion about this valvulopathy.
The estimated incidence is 1 in 2000 births.
Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes.
Overall, congenital radial head dislocation is rare 2.
Congenital radial he...
Congenital renal anomalies comprise of vast spectrum of pathologies and include:
congenital renal hypoplasia
congenital cystic renal disease
infantile polycystic renal disease: autosomal recessive polycystic kidney disease (ARPKD):...
Congenital spinal meningoceles are developmental anomalies of meningothelial elements displaced into the skin and subcutaneous tissues.
Please refer to the meningocele article for a broad overview of all types of this condition.
It is a defect of the neural tube, an embryonic struc...
Congenital talipes equinovarus (CTEV) is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound.
While some use CTEV and clubfoot (CF) synonymously, in certain publications term clubfoot is considered a more general descriptive term that describes t...
Congenital tracheo-esophageal fistula is a congenital pathological communication between the trachea and esophagus.
Tracheo-esophageal fistula and esophageal atresia have a combined incidence of approximately 1 in 3500 live births 1-3,5. There is only a minimal hereditary/geneti...
Congenital hallux valgus is a very rare finding wherein a fetus or newborn shows lateral deviation of the first toe(s). When found on prenatal imaging, bilateral congenital/foetal hallux valgus is highly suggestive of fibrodysplasia ossificans progressiva 1,2.
Conjoined twin pregnancy is a rare occurrence resulting from the failure of a zygote to separate completely after 13 days 11. This results in the twins being physically joined.
The prevalence of conjoined twins ranges from 1:50,000 to 1:200,000. They are more common in parts of So...
Convolutional markings are normal impressions of the gyri on the inner table of the skull, seen predominantly posteriorly. If they are pronounced and over the more anterior parts of the skull, then this is referred to as a copper beaten skull and suggests the presence of raised intracranial pres...
Copper beaten skull, also known as beaten silver skull or beaten brass skull, refers to the prominence of convolutional markings (gyral impressions on the inner table of the skull) seen throughout the skull vault.
The appearance of a copper beaten skull is associated with...
The corkscrew sign describes the spiral appearance of the distal duodenum and proximal jejunum seen in midgut volvulus 1.
In patients with malrotation and volvulus, the distal duodenum and proximal jejunum do not cross the midline and instead pass in an inferior direction. These loops twist on ...
Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown etiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies.
Coronal vertebral clefts refer to the presence of radiolucent vertical defects on a lateral radiograph.
It is most often seen in premature male infants 1,3. As they can occur as part of normal variation (especially in the lower thoracic-upper lumbar spine of premature infants) t...
Cortical desmoids, also known as cortical avulsive injuries or the Bufkin lesion, are a benign self-limiting entity. This is a classic "do not touch" lesion, and should not be confused with an aggressive cortical/periosteal process (e.g. osteosarcoma).
Cortical desmoid is a misnom...
Costal cartilage fractures are fractures of the cartilage connecting the ribs anteriorly to the sternum.
There is little published data on costal cartilage fractures. Most reported cases are in males and resulted from blunt trauma or a fall 1,2.
In young ch...
Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of ...
Coxa valga describes a deformity of the hip where there is an increased angle between the femoral neck and femoral shaft.
Coxa valga is often associated with shallow acetabular angles and femoral head subluxation.
neuromuscular disorders, e.g. cerebral palsy
Coxa vara describes a deformity of the hip where the angle formed between the head and neck of the femur and its shaft (Mikulicz angle) is decreased, usually defined as less than 120 degrees.
It can be congenital or acquired. The common mechanism in congenital cases is a failure of m...
Cozen fracture or phenomenon is the valgus angulation deformity of the tibia following a proximal tibial metaphyseal fracture in children.
This typically occurs as a late deformity in children aged 3-6 years.
Proposed causes include:
non-recognized or under ...
Craniopagus twins are conjoined twins that are fused at any part of the skull, except the face, foramen magnum, skull base and the vertebral column.
The fused structures are most often the cranium, meninges, and dural venous sinuses. Brains tend to be separate; however, may be connected by a br...
Craniorachischisis, also known as craniorachischisis totalis, is a rare birth defect and the most severe of the neural tube defects. It refers to the presence of both anencephaly and spina bifida.
In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in...
Craniosynostosis refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early.
There is a 3:1 male predominance with an overall incidence of 1 in 2000-2500. 8% of cases are syndromic or famil...
The cremaster muscle is the thin fascial muscle of the spermatic cord made of skeletal muscle. It is also referred to as cremaster fascia or simply the cremaster. Its action is to retract the testes, important in thermoregulation and spermatogenesis.
It is derived from the inter...
The crescent in a doughnut sign refers to the transverse ultrasound appearance of intestinal intussusception, and is a variation of the target sign (which is also known as the doughnut sign)
The doughnut is formed by concentric alternating echogenic and hypoechogenic bands. The echogenic bands ...
Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterized by widespread discontinuous gastrointestinal tract inflammation. The terminal ileum and proximal colon are most often affected. Extraintestinal disease is common.
Croup, also known as acute laryngotracheobronchitis, is due to viral infection of the upper airway by parainfluenza virus or respiratory syncytial virus (RSV).
Although imaging findings are not required for the diagnosis, classic findings of narrowing of the subglottic airway and dilatation of ...
Crouzon syndrome is rare disorder characterized by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exophthalmos
mid facial hypoplasia
It carries an autosomal dominant...
Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder.
Patients present with a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centers. Congenital heart diseases have...
The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6.
anorectal malformation or con...
A number of entities can present as cyanotic congenital heart disease. These can be divided into those with increased (pulmonary plethora) or decreased pulmonary vascularity :
increased pulmonary vascularity
total anomalous pulmonary venous return (TAPVR) (types I and II)
transposition of the...
CyberKnife® is a stereotactic radiotherapy system which uses a compact linear accelerator mounted on a robotic arm, coupled with a digital x-ray image guidance system. The robotic arm allows movement with many degrees of freedom compared to typical linear accelerators which only rotate around t...
Cyclopia refers to a rare fetal malformation characterized by a single palpebral fissure and a single midline orbit. This orbit may contain either a single globe or two separate globe.
The condition is thought to affect approximately 1 in 40,000 to 95,000 births (inclusive of stil...
Cystic fibrosis (CF) is an autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, and small bowel resulting in progressive disability and multisystem failure. This article is a general discussion of the disease. Each organ system will be discussed s...
Pulmonary manifestations of cystic fibrosis are some of the best known in cystic fibrosis (CF). This is partly because the lungs are often severely affected and the cause of significant morbidity and mortality.
For general discussion of cystic fibrosis, and a discussion of its other manifestat...
Cystic hygroma, also known as cystic or nuchal lymphangioma, refers to the cystic variety of congenital lymphangioma which, most commonly, occur in the cervicofacial regions, particularly at the posterior cervical triangle.
They usually occur in the fetal/infantile and pediatric...
Cystic leukoencephalopathy without megalencephaly, is an autosomal-recessive inherited condition that manifests in the early childhood with moderate to severe psychomotor retardation and spasticity.
On imaging, it is characterized by bilateral anterior subcortical temporal lobe cysts and extens...
Cystic lesions in pediatric patients are usually congenital lesions and, as such, can be seen antenatally and following delivery.
These congenital lesions are predominantly covered by the overarching diagnosis of bronchopulmonary foregut malformation. This is a ...
The differential diagnosis of a cystic mass adjacent to the angle of mandible includes:
2nd branchial cleft cyst
lymphatic malformation (lymphangioma)
from metastatic squamous cell carcinoma
from metastatic papillary thyroid cancer
Cystic nephromas, previously known as multilocular cystic nephromas, are rare benign renal neoplasms classically occurring in adult females in the 4th and 5th decades. As of the 2016 WHO classification, they are considered distinct from pediatric cystic nephromas which have associated DICER1 gen...