Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx 2.
Single or multiple b...
The bracket sign refers to a radiographic appearance seen with the tubulonodular variety of pericallosal lipoma. It reflects calcification seen at the periphery of the midline lipoma. It is best seen on coronal imaging and historically was identified on frontal radiographs.
It should not be con...
Brainstem gliomas consist of a heterogeneous group which vary greatly in histology and prognosis.
It should be noted that if not otherwise specified the term brainstem glioma usually refers to the most common histology, the diffuse brainstem glioma, and in children is most likely a...
Common brain tumours in infancy (i.e. under one year of age) are quite different from those of brain tumours in adulthood. Most are located in the supratentorial region (~65%) and they carry a poor prognosis.
The frequency of these tumours varies according to studies, but the most common brain ...
Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterised by:
can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment
branchial fistulae and branchial cleft cysts
Brodie abscess is an intraosseous abscess related to a focus of subacute pyogenic osteomyelitis. Unfortunately, there is no reliable way radiographically to exclude a focus of osteomyelitis. It has a protean radiographic appearance and can occur at any location and in a patient of any age. It mi...
Bronchial atresia is a developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus associated with hyperinflation of the distal lung.
On imaging, it commonly presents as a proximal focal tubular shaped opacity radiating from the hilum associated with a dista...
Bronchogenic cysts are congenital malformations of the bronchial tree (a type of bronchopulmonary foregut malformation). They can present as a mediastinal mass that may enlarge and cause local compression. It is also considered the commonest of foregut duplication cysts.
Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop several weeks later in infants on prolonged ventilation.
BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premat...
Bronchopulmonary foregut malformation (BPFM) is a term that encompases:
congenital pulmonary airways malformation (CPAM)
foregut duplication cysts
They result from anomalous budding of the ...
Bucket handle fracture may refer to:
bucket handle fracture - non-accidental injury
bucket handle fracture of the pelvis
Burkitt lymphoma is an aggressive B-cell lymphoma predominantly affecting children.
Burkitt lymphoma is the most common (40%) type of non-Hodgkin lymphoma in childhood. Median age is eight years with a male predominance (M:F = 4:1) 1. It is less common in adults, accounting for 1-...
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 external to the Galeal aponeurosis in the newborn's scalp. The fluid collection is extra-periosteal. It may be imaged with ultrasound, CT, or MRI.
Caput succedaneum results f...
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...
Cardiovascular (cardiac) shunts are abnormal connections between the pulmonary and systemic circulations. Most commonly they are the result of congenital heart disease.
Blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. 'left-to-right shunt') or ...
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...
The caterpillar sign is a radiological sign described in pyloric stenosis.
It refers to the appearance of stomach on an upper gastrointestinal radiographic series or plain abdominal radiograph 1,2. On these imaging modalities in a patient with pyloric stenosis, the stomach appears distended, ai...
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 between the periosteum and cranium, 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...
Cervical adenitis refers to the inflammation of lymph nodes in the neck.
Most common cause of a paediatric neck mass following non-specific infectious/inflammatory insults.
In the paediatric population, a child will present with a painful cervical mass.
The cervical thymus refers to the ectopic location of thymus at the cervical level above the brachiocephalic vein.
A cervical thymus usually presents before adolescence as a painless unilateral midline or lateral neck mass.
Around the 4th to 5th wee...
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
The Children’s Head injury ALgorithm for prediction of Clinically Important Events (CHALICE) clinical decision rule was developed to predict clinically important brain injuries in children with head trauma. This rule identifies high-risk criteria and divides them into history, examination and me...
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 tonsils (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modali...
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...
Chronic suppurative lung disease (CSLD) refers to a group of conditions which includes:
primary ciliary dyskinesia
This term is usually used in the context of paediatric patients.
Ciliopathies refer to diseases due to malfunctioning cilia (singular: cilium). Cilia are organelles that are external extensions of the cell membrane. Cilia fall into two main types: primary (or immotile) cilia and motile cilia.
Primary cilia are found in virtually every...
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 into one of three major underlying groups according to the main underlying mechanism:
group I: abnormal cell proliferation or apoptosis
group II: abnormal neuronal migration
group III: abnormal co...
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 of the kidney (CCSK) are a rare mesenchymal renal tumour that account for ~5% of primary renal neoplasms in the paediatric population 1.
Clear cell sarcoma of the kidney is the second most common primary malignant paediatric renal neoplasm after Wilms tumour, ...
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 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 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 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...
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.
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. 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 ...
Congenital goitre 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 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...
Congenital haemangiomas are benign vascular tumours of childhood that are present at birth. They are mostly indistinguishable from infantile haemangioma on imaging but have distinct histological and clinical features.
While the majority are cutaneous or subcutaneous in nature, the can occur ext...
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 airways obstruction syndrome (CHAOS) refers to 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 oesophagea...
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 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, floppy calyces predispose to stasis, infection and calcul...
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