Butterfly vertebra is a type of vertebral anomaly that results from the failure of fusion of the lateral halves of the vertebral body because of persistent notochordal tissue between them.
an anterior spina bifida, with or without an anterior meningocele
can be part of...
Café au lait spots are a type of pigmented skin lesions which are classically described as being light brown in colour.
Conditions associated with them include:
neurofibromatosis type 1 (NF1)
McCune-Albright syndrome: typically irregular which has been likened to ...
Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability.
A rare variant known as prenatal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity ...
Calvarial thinning can result from many causes. They include:
craniofacial syndromes 1
focal calvarial thinning
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
The canal of Nuck is an abnormal patent pouch of parietal peritoneum extending anteriorly from the round ligament of the uterus into the labia majora through the inguinal ring into the inguinal canal. Incomplete obliteration of this canal is known as a patent processus vaginalis and can result i...
Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterised by megalencephaly, severe mental and neurological deficits, and blindness.
Capillary haemangiomas of the orbit, also known as strawberry haemangiomas, on account of its colouring, or orbital infantile haemangiomas, are the most common orbital tumours of infancy, and unlike orbital cavernous haemangiomas, they are neoplasms rather than vascular malformations.
Caput succedaneum is a manifestation of birth trauma, and it consists of a subcutaneous serosanguineous fluid collection beneath the newborn's scalp. The fluid collection is extra-periosteal. It may be imaged with ultrasound, CT, or MRI.
Caput succedaneum results from pressure on the presenting...
Cardiac rhabdomyomas are a type of benign myocardial tumour and are considered the most common fetal cardiac tumour. They have a strong association with tuberous sclerosis.
Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumours in the paediatric pop...
The cases featured in these video lectures are specifically selected to teach important concepts in radiology over a broad range of topics. The tutorials vary in difficulty from basic to advanced. For maximum learning, try the cases for yourself in Radiopaedia quiz mode first.
We love this ser...
Caudal regression syndrome (CRS) represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis.
Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10.
The caudothalamic groove is an important landmark when performing neonatal cranial ultrasound.
As the name suggests, it is located between the caudate nucleus and thalamus, and is a shallow groove projecting from the floor of the lateral ventricle. It is approximately at the leve...
Cenani-Lenz syndactyly (CLS) is a very syndrome primarily characterised by:
syndactyly/oligodactly: syndactyly is often complete and gives a spoon hand type appearance
It carries an autosomal recessive inheritance.
It was first described...
Intracranial germinomas, also known as dysgerminomas or extra-gonadal seminomas, are a type of germ cell tumour and are predominantly seen in paediatric populations. They tend to occur in the midline, either at the pineal region (majority) or along the floor of the third ventricle/suprasellar re...
Cephalohaematomas are traumatic subperiosteal haematomas of the skull that are usually caused by birth injury. They are bound by the periosteum and, therefore, cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal haematoma, which can cross sutures.
Cephalopagus twins are a rare type of conjoined twins. They are fused from the vertex to the umbilicus. They share a common cranium with either one composite face or two faces on opposite sides of the conjoined head.
The thoraces are fused with fusion of liver, heart and the upper gastrointesti...
Cerebellar agenesis is a rare congenital abnormality which can result from failure to develop normal cerebellar tissue or destruction of normally developed tissue.
For a more general overview of cerebellar malformations, please refer to the article on classification systems for malformations of...
Cerebral hypoventilation syndrome refers to a congenital condition characterised by hypoventilation during sleep with no other abnormalities of cardio-respiratory system. There is a decrease in the depth of breathing .
It is also known as Congenital central hypoventilation syndrome (CCHS) or On...
The cervix sign of pyloric stenosis describes indentation of the pylorus into the fluid-filled antrum, seen in pyloric stenosis.
antral nipple sign
target sign of pyloric stenosis
shoulder sign of pyloric stenosis
CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders:
H: heart defects (congenital heart disease)
A: atresia (choanal)
R: retardation (mental)
G: genital hypoplasia
E: ear abnormalities/deafness
Chiari I malformation is the most common variant of the Chiari malformations, and it is characterised by a caudal descent of the cerebellar tonsil (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modalit...
Unfortunately the paediatric population is susceptible to malignancies. The most common entities, in overall order of frequency, are 1-4:
leukaemia/lymphoma: ~35% *
acute lymphoblastic leukaemia: 23%
Hodgkin disease: 5%
acute myelogenous leukaemia: 4%
central nervous system malignancies: ~2...
CHILD syndrome is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. It comprises of:
Ch: congenital hemidysplasia
I: ichthyosiform erythroderma
develops at or shortly after birth
unilateral erythema and scaling, with a distinct demarcation in the middl...
Choanal atresia refers to a lack of formation of the choanal openings. It can be unilateral or bilateral.
It frequently presents in neonates where it is one of the commonest causes of nasal obstruction in this age group. There is a recognised female predilection. The incidence is ...
Chondroblastomas, also referred as Codman tumours, are rare benign cartilaginous neoplasms that characteristically arise in the epiphysis or apophysis of a long bone in young patients. Despite being rare, they are one of the most frequently encountered benign epiphyseal neoplasms in skeletally i...
Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.
It can be broadly divided into rhizomelic and non-rhizomelic forms:
Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5.
Clinical features include:
narrowing of thorax with short ribs
small and flared ilia
Chondrolysis, also known as acute cartilage necrosis, is an acute cartilage destruction of the femoral head. It is one of the complications that are specifically associated with slipped capital femoral epiphysis (SCFE). It is a poorly understood phenomenon.
The quoted incidence is...
Choroid plexus papillomas are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumour which can occur in both the paediatric (more common) and adult population.
On imaging, these tumours are usually identified in the fourth ventricle in adults and in the lateral ventricles in...
The Chrispin-Norman score is used to provide a summative assessment of structural lung changes in patients with cystic fibrosis on plain chest radiographs.
It is useful to monitor disease progression or treatment response and can be used to compare between different patients in research studies...
There are large number of recognised chromosomal anomalies (many with eponymous names). When there is a change in the absolute number of chromosomes these are sub grouped as aneuploidic anomalies.
They can cause variable handicap - outcome ranging from some having no effect (in some balanced tr...
Chronic hereditary lymphedema or Milroy disease is a condition characterised by lower-limb lymphedema. Patients typically present with pedal oedema at or before birth or soon after. Occasionally, it develops later in life.
Mutations in the FLT4 gene is thought to be present...
Chronic hip subluxation most common occurs in paediatric patients with neuromuscular disorders (e.g. cerebral palsy). It is considered a form of developmental hip dysplasia.
Chronic hip subluxation occurs in ~45% of cerebral palsy patients who are not walking by 5 years of age 3....
Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection and neoplasia has been ruled out. However, there are some cases in which lesion location and mo...
Classification of proximal femoral deficiency (PFFD) can be complicated and numerous such classifications have been proposed. For a discussion of the condition refer to the article proximal focal femoral deficiency.
One of the simplest and most widely used is that proposed by Aitken 1 which is ...
Classification system for malformations of cortical development organises a myriad of conditions according to one of three major underlying mechanisms:
abnormal cell proliferation
abnormal neuronal migration
abnormal cortical organisation
As is to be expected a number of conditions fall out...
Classification systems for malformations of the cerebellum are varied and are constantly being revised as greater understanding of the underlying genetics and embryology of the disorders is uncovered. A classification proposed by Barkovich et al in 2009 1 divides cerebellar malformations in two ...
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 (CCS) of the kidney are a rare mesenchymal renal tumour that accounts for ~5% of primary renal neoplasms in paediatric population 1.
CCS is the second most common primary malignant renal neoplasm after Wilms tumour, with an annual incidence of 20 cases in the ...
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
CLOVE syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Abnormalities have a truncal predominance.
Associated findings include:
wide feet and hands
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....
Cobb's collar(also known as a Moormann's ring) is an uncommon finding on a paediatric voiding/micturating cystourethrogram (VCUG), but an indentation of the bulbar urethra is seen in more than half of boy's who are cystoscoped, as the narrow represents two different phenomena3-4.
Coffin-Lowry syndrome (CLS) is a rare X-linked syndrome.
Tends to affect males much more due to its x linked inheritance. The estimated incidence is at around 1:40000-50000.
It is characterised by a number of clinical features which include:
central nervous sy...
Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.
It occurs more frequently in females (with a M:F of ~4:1).
It is thought most likely to relate to a gene on chromosome 7, however its exact location has yet to be determined.
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-recognised, especially asymptomatic variants 1.
The clinical ...
Coloboma is 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.
Most commonly colobomas are due to failure of closure of the choroidal fissure posteriorly. Typically colob...
Colpocephaly is a descriptive term to a disproportionate prominence of the occipital horns of the lateral ventricles. It can result from a wide range of congenital insults.
Patient may present with motor abnormalities, cognitive deficit, visual abnormalities, and seizures...
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 e...
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
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.
These defects as a group have a heterogeneous aetiology w...
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. Will be higher in areas with increased rates of congenital infection 5.
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 tumours are diagnosed at ...
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 cystic bronchiectasis is a rare entity, and as the name suggests is characterised by cystic bronchiectasis found in infancy 1. The term appears to have fallen out of favour, due to variable use in older literature. In most instances of congenital cystic bronchiectasis has what is now ...
Congenital cytomegalovirus infection results from intra-uterine fetal infection by cytomegalovirus (CMV).
CMV is the most common cause of intra-uterine infection and most common cause of congenital infective and brain damage, occurring in 0.2-2.4% of live births.
Antibodies to ...
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...
A congenital facial palsy (CFP) 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.
CFP are reported with an incidence of ~0.2% of ...
A congenital granular cell myoblastoma (also known as congenital epulis) is a very rare benign tumour 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 predilectio...
With the advent of echocardiography, and cardiac CT and MRI, the role of chest radiographs 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 diagnos...
Congenital high airways obstruction syndrome (CHAOS) refers a rare, often lethal, congenital laryngotracheal condition and is primarily characterised by obstruction to the fetal upper airway.
CHAOS can be of three possible types 2:
complete laryngeal atresia without an oesophageal f...
Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular aetiology.
Most children are asymptomatic at birth and are diagnosed after screening. In untreated CHT pa...
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.
O: other (e.g. syphilis, varicella-zoster, parvovirus B19)
Congenital limb amputations are a limb anomaly that usually occur due to disruption of vascular supply.
Congenital amputations occur in 0.5 (range 0.03-1) per 1000 live births 2.
Slightly more common in the upper limb (60%) than in the lower limb (40%) 2.
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 it more frequently seen in males.
The enlarged, floppy calyces predispose to stasis, infection and calcu...
A congenital (primary) megaureter is a 'basket-term' to encompass 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 encompasses:
obstructed primary megaureter
Congenital muscular dystrophies (CMD) 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.
A 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 ar...
Congenital portosystemic shunts are rare anatomical abnormalities linked to abnormal embryological venous development. They can be extrahepatic or intrahepatic. In either case, the underlying abnormality is shunting of blood from the portal venous system to the systemic venous system thus avoid...
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 tibial 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 aetiology is unclear, how...
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 congential dilatation of the lymphatic system.
It typically presents in infancy. It may be isolated to lung or may be part of a generalised lymphangiectasia.
Congenital pulmonary stenosis (CPS) refers to congenital narrowing of the right ventricular outflow tract, pulmonary valve or pulmonary artery.
The estimated incidence is 1 in 2000 births.
Can be morphologically categorised depending on the relationship to the pulmonar...
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 meningocoeles are developmental anomalies of meningothelial elements displaced into the skin and subcutaneous tissues.
Please refer on menigocoele article for a broad overview of all types of this condition.
It is defect of the neural tube, an embryonic structure ...
Congenital talipes equinovarus (CTEV) is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound.
While some use CTEV and club foot (CF) synonymously, in certain publications term clubfoot is considered a more general descriptive term that describes ...
Congenital tracheo-oesophageal fistula is a congenital pathological communication between the trachea and oesophagus.
Tracheo-oesophageal fistula and oesophageal atresia have a combined incidence of approximately 1 in 3500 live births 1-3,5. There is only a minimal hereditary/ge...
Conjoined twin pregnancy are rare occurrence resulting from failure of a zygote to separate completely after 13 weeks. 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 Southeast...
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 raises the possibility of raised intracranial pre...
Copper beaten skull, also known as 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 copper beaten skull is associated with raised intracranial pres...
The corkscrew sign describes the spiral appearance of the distal duodenum and proximal jejunum seen in midgut volvulus. It has been identified as a diagnostic indicator of midgut volvulus 1.
In patients with malrotation and volvulus, the distal duodenum and proximal jejunum do not cross the mid...
Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogenous developmental disorder of unknown aetiology.
The estimated incidence is at ~1:10,000-160,000 births ref. There is no recognised racial or gender predilection 8.
The syndrome carries ...
Coronal vertebral cleft refers to the presence of a radiolucent vertical defect 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) ...
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...
Cowden syndrome, also known as multiple hamartoma syndrome, is characterised 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 naevus, when it is considered a type o...