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...
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 mechansim in congenital cases is a failure of m...
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 bri...
Craniosynostosis refers to 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.
Primary forms are either sporadic or familial. Secondary craniosynosto...
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 ...
Croup, also called acute laryngotracheobronchitis is due to viral infection of the upper airway by parainfluenza virus or respiratory syncytial virus (RSV).
On imaging, although not required for the diagnosis, it classically presents with a narrowing of the subglottic airway and ballooning of t...
Crouzon syndrome is rare disorder characterised by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exopthalmos
mid facial hypoplasia
It carries an autosomal dominant ...
Currarino-Silverman syndrome is a rare disorder characterized by high carinate chest deformity caused by premature fusion of manubrio-sternal joint and the sternal segments. It is frequently associated with congenital heart disease.
It occurs more frequently in boys than girls. The majority of ...
The Currarino (or ASP) triad is characterised by:
anorectal malformation or congenital anorectal stenosis
sacrococcygeal osseous defect
e.g anterior sacral meningocele
and/or tumours such as teratoma and hamartoma
An association with epidermoid cysts of the central nervous s...
A number of entities can present as cyanotic congenital heart disease. These can be divided into those with increased or decreased pulmonary vascularity (pulmonary plethora):
increased pulmonary vascularity
total anomalous pulmonary venous return (TAPVR) (types I and II)
transposition of the ...
Cyclopia refers to a rare fetal malformation characterised 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...
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 paediatri...
Cystic lesions in paediatric patients are usually congenital lesions and, as such, can be seen prenatally and following delivery.
These congenital lesions are predominantly covered by the overarching diagnosis of bronchopulmonary foregut malformation. This is a heterogeneous...
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
Dandy-Walker continuum, also referred as Dandy-Walker spectrum or Dandy-Walker complex, corresponds to a group of disorders believed to represent a continuum spectrum of posterior fossa malformations, characterised by a combined posterior fossa cyst communicating with the fourth ventricle as wel...
A generalised retardation in skeletal maturation has different causative or aetiological factors, these can be classified as follows:
chronic ill health
congenital heart disease (especially cyanotic)
chronic renal disease
inflammatory bowel disease
malnutrition: failure to thrive (FTT)
The delta resistive index (delta RI or Δ RI) is a measurement that can be made when performing Doppler ultrasound.
In preterm babies who have hydrocephalus secondary to intraventricular haemorrhage, the delta RI can be used to determine whether decompression of the ventricular system with a...
The differential diagnosis of dense metaphyseal bands is wide.
chronic anaemia, e.g. sickle cell disease, thalassemia
chemotherapy, e.g. methotrexate
growth acceleration lines following growth arrest due to systemic illness or stress in infancy or childhood, e....
Desmoplastic infantile astrocytoma and gangliogliomas are a rare intracranial tumour, which despite their aggressive appearances tend to have a good prognosis and are considered WHO grade I tumours.
Previously considered separate entities, desmoplastic infantile astrocytoma and de...
Developmental dysplasia of the hip (DDH) denotes aberrant development of the hip joint and results from an abnormal relationship of the femoral head to the acetabulum. There is a clear female predominance, and it usually occurs from ligamentous laxity and abnormal position in utero. Therefore, i...
Diabetic embryopathy refers to a spectrum of fetal anomalies that precipitate when the mother has background type I diabetes. The fetus may develop many of the fetal conditions associated with maternal diabetes although strictly speaking the the anomalies should only include those that start in ...
Diastematomyelia, also known as a split cord malformation, refers to a type of spinal dysraphism (spina bifida occulta) when there is a longitudinal split in the spinal cord.
Although traditionally it has been distinguished from diplomyelia (in which the cord is duplicated rather ...
Diffuse brainstem gliomas, also known as diffuse intrinsic brainstem glioma (DIBG), is a term used to describe infiltrating astrocytomas, no longer recognised as a distinct entity in the 2016 update to the WHO classification of CNS tumours. It encompassed a variety of tumours, ranging from WHO g...
Disorder of gender development refers to the spectrum of rare congenital conditions in where there is an atypical development of chromosomal, gonadal, or anatomic sex.
They can be classified broadly into four categories on the basis of gonadal histologic features which include:
Dorsal brainstem syndrome is a rare subset of hypoxic ischaemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features it is often undiagnosed.
Injuries involving the teg...
The double bubble sign is seen in infants and represents dilatation of the proximal duodenum and stomach. It is seen in both radiographs and ultrasound, and can be identified antenatally 2.
Causes include 1,2:
The double density sign, also sometimes clumsily referred to as the hotter spot within hot area sign, is a bone scan sign of an osteoid osteoma.
It refers to a central focus of intense uptake (the nidus) within a surrounding lower, but nonetheless increased uptake, rim.
Double outlet left ventricle (DOLV) is an extremely rare congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the anatomical left ventricle. It is usually classified as a conotruncal anomaly and is often associated with a ventricular septal defect with normal continuity...
Double outlet right ventricle (DORV) is a congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the morphologically right ventricle. It is reported to account for ~2% of congenital cardiac defects 1. It is usually classed as a conotruncal anomaly. There is almost always ...
The double track sign is a radiological sign described in pyloric stenosis on various imaging modalities.
Double streaks of barium passing through the narrow pylorus 1.
On fluid aided real-time examination, the pyloric fluid is compressed into smaller tracks as it is...
Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumour gene) and consists of:
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life.
Patients usually present in first six months to one year of life with tonic-clonic seizures in a febrile ch...
Duane radial ray syndrome (DRRS) (also known as the Okihiro syndrome) is a rare an autosomal dominant condition characterized by radial ray defects and a Duane anomaly (a form of strabismus with horizontal gaze palsy).
Duane syndrome, also known as Duane retraction syndrome, is a rare congenital disease characterised by non-progressive strabismus. It is caused by a variable degree of abnormal development of one or both 6th cranial nerves (CN VI).
It presents during childhood and it accounts for ...
Dubowitz syndrome (DS) is a rare genetic disorder with a wide clinical spectrum which includes:
intrauterine growth restriction (IUGR)
postnatal growth retardation
moderate mental retardation
characteristic facial anomalies
Duchenne muscular dystrophy (DMD) is a dystrophinopathy and the most common muscular dystrophy.
DMD has an incidence of 1 in 3500 to 5000 males 1,2. The condition is extremely rare in females due to its inheritance pattern, as discussed below 1.
The ductus arteriosum (or arteriosus) is the thick short conduit for blood to bypass the non-ventilated lungs in the fetus. It is located between and connects the proximal left pulmonary artery and the undersurface of the aortic arch distal to the origin of the last branch of the arch, at the ao...
Duodenal atresia results from a congenital malformation of the duodenum and requires prompt correction in the neonatal period. It is considered to be one of the commonest causes of a fetal bowel obstruction.
The prevalence of duodenal atresia is ~1 in 5,000-10,000 newborns, and th...
A duodenal web, diaphragm or intraluminal diverticulum refers to a complete or incomplete obstruction at the duodenum due to a membranous web or intraluminal diverticulum. There is usually a small aperture at the centre differentiating this from a duodenal atresia.
Although they are frequently...
Dysgenesis of the corpus callosum may be complete (agenesis) or partial and represents an in utero developmental anomaly. It can be divided into:
primary agenesis: the corpus callosum never forms
secondary dysgenesis: the corpus callosum forms normally and is subsequently destroyed
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterised by osteochondromas arising from the epiphyses.
The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1...
Ebstein anomaly is an uncommon congenital cardiac anomaly, characterised by a variable developmental anomaly of the tricuspid valve.
The anomaly accounts for only ~0.5% of congenital cardiac defects 6-7, although it is the most common cause of congenital tricuspid regurgitation. T...
Echogenic fetal bowel is an observation in antenatal ultrasound imaging, in which fetal bowel appears to be brighter than it is supposed to be. It is a soft marker for trisomy 21 and has several other associations. When observed, it needs to be interpreted in the context of other associated abno...
Ectodermal dysplasia (ED) refers to a heterogeneous group of genetic disorders that cause abnormal ectoderm development. The effect is a non-progressive defect in the development of two or more tissues derived from embryonic ectoderm.
ED is rare with an estimated prevalence of 1:...
An ectopic ureter is a congenital renal anomaly that occurs as a result of abnormal caudal migration of the ureteral bud during its insertion to the urinary bladder. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder.
In females, the most common ...
Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of
ectrodactyly +/- syndactyly 1 +/- polydactyly 5
facial clefts: cleft lip and/or palate
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
Egg-on-a-string sign, also referred to as egg on its side, refers to the cardiomediastinal silhouette seen in transposition of the great arteries (TGA).
The heart appears globular due to an abnormal convexity of the right atrial border and left atrial enlargement and therefore appears like an ...
Eisenmenger syndrome is a complication of an uncorrected high-flow, high-pressure congenital heart anomaly leading to chronic pulmonary arterial hypertension and shunt reversal.
In general, the shunts that lead to Eisenmenger syndrome share are high pressure and high flow 3. As su...
Elbow ossification occurs at the six elbow ossification centers in a reproducible order. Being familiar with the order of ossification of the elbow is important in not mistaking an epicodylar fracture for a normal ossification center.
The order of appearances of the elbow os...
Mnemonics for elbow ossification include CRITOE and CRITOL. These are essentially the same, apart from the terminal letter which represents the External or Lateral epicondyle.
C - capitellum
R - radial head
I - internal epicondyle
T - trochlea
O - olecranon
E - external ...
The embryonal subtype of rhabdomyosarcoma is the most common variety of rhabdomyosarcoma, accounting for 50-70% of cases 1-2. It is typically seen in children below the age of 15.
Embryonal rhabdomyosarcomas are further divided into three sub types 1:
spindle cell rhabdomyosarcoma
Embryonal tumours with multilayered rosettes (ETMR) are rare small round blue cell tumour of the central nervous system and are one of the most aggressive brain tumours usually encountered in children.
Previously embryonal tumours with multilayered rosettes (ETMR) where known as e...
Encephalocele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocele where brain tissue and overlying meninges herniate out through a defect in the cranium.
It should be distinguished from cranial meningocele in which the lesion contains onl...
Enchondromatosis, also known as Ollier disease, is a non-hereditary, sporadic, skeletal disorder characterised by multiple enchondromas that are principally located in the metaphyseal regions.
Some authors make a distinction between Ollier disease and enchondromatosis on the basis ...
Endocardial fibroelastosis (EFE) is a rare cardiac condition which is classically described in the paediatric population (typically first two years). It is one of the causes for infants to present with unexplained heart failure.
The condition results from increasing amounts of fibro...
Endochondral ossification describes the process of ossification from mesenchymal cells (stem cells) with a cartilaginous template and is involved in the healing process of fractures.
Bone formation occurs at centers of ossification (or ossification centres) which are either primary or secondary...
Enterovirus 71 is one of the viruses that causes hand-foot-and-mouth disease in children. It is an enterovirus, one of the picornaviruses.
Infection with enterovirus 71 predominantly results in a vesicular rash of the hands and feet that follows a prodrome of symptoms including fever, vomiting ...
Enterovirus rhomboencephalitis is the most common neurological complication of enterovirus infection 1.
Enterovirus rhomboencephalitis causes acute and severe neurologic disorders such as ataxia, nystagmus, oculomotor palsies, or bulbar palsy. In some cases, neurologic af...
Ependymoma RELA fusion-positive is a recently accepted variant of ependymoma, only recognised in the 2016 update to the WHO classification of CNS tumours. They are the most common type of supratentorial ependymoma in children, and not found in the posterior fossa or spinal cord.
Epicondyle fractures are common injuries in children. They represent 10% of all elbow fractures in children and usually occur in boys after a fall on an outstretched arm.
Medial epicondyle fractures comprise most of these injuries. They can usually be treated with splinting and early physiother...
Epiglottitis is a life-threatening condition caused by inflammation of the epiglottis and aryepiglottic folds 1, which can lead to acute airway obstruction. Hence, treatment should be urgent and performed by appropriately trained individuals, e.g. instrumentation of the trachea should be perfor...
Epispadias is a rare congenital anomaly that is almost always associated with bladder exstrophy.
It occurs in 1 in 30,000 births, with a male: female ratio of 3:1.
The roof of the urethra is absent and the urethra opens anywhere between the base and the gl...
Erb palsy, also known as brachial plexus birth palsy, is a form of obstetric brachial plexus injury as a result of complications during delivery.
The most common cause is due to excessive lateral traction or stretching of the fetal head and neck in opposite directions du...
Endotracheal tubes (ETT) are wide-bore plastic tubes that are inserted into the trachea to allow artificial ventilation. Tubes come in a variety of sizes and have a balloon at the tip to ensure that gastric contents are not aspirated into the lungs. Adult tubes are usually approximately 1 cm in ...
Ewing sarcoma is the second most common highly malignant primary bone tumour of childhood after osteosarcoma, typically arising from medullary cavity with invasion of Haversian system. They usually present as moth-eaten destructive permeative lucent lesions in the shaft of long bones with large ...
Ewing sarcoma family of tumours (ESFT) are a group of small round blue cell tumours that are closely histogenetically related, all demonstrating non-random t(11;22)(q24;q12) chromosome rearrangement resulting in the formation of the EWS-ETS fusion gene 1-3. They include:
Ewing sarcoma of bone
Extracorporeal membrane oxygenation (ECMO) is used as a modified pulmonary or cardiopulmonary bypass technique in those with severe cardiac and/or respiratory failure refractory to conventional ventilatory support and medical intervention 1,3. There are two access paths for extracorporeal life s...
Exudative retinitis, also known as retinal telangiectasis or Coats disease, is a rare congenital disease affecting the eyes and is a cause of leukocoria.
It occurs predominantly in young males, with the onset of symptoms generally appearing in the first decade of life with a peak ...
Fatco syndrome is a syndrome consisting of
tibial campomelia and
It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance.
Fuhrmann syndrome and Al-Awadi syndrome are said to be similar to FA...
Faulty fetal packing, also known as congenital vault depression, is a congenital concave depression of the skull in a newborn.
Occurs in 1 in 10,000 births 1.
This appearance is due to external compression on the skull from 1,2:
fetal limb or twin
Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with status epilepticus in a previously normal child (or less commonly adult) after a febrile illness.
FIRES has received several names in the literature:
Feingold syndrome is characterised by the combination of:
alimentary tract atresias especially oesophageal atresia
Femur sparing intrauterine growth restriction is considered by some authors as a particular type of intrauterine growth restriction (IUGR) 1. In this type, the femoral length is the only standard fetal biometric parameter unaffected while all others are reduced.
Fetal circulation differs from the adult circulation due to the presence of certain vessels and shunts.
These shunts will close after birth, and most of these fetal vessels will be seen as remnants in the adult circulation. The function of these shunts is to direct oxygen-rich venous blood to ...
A fetal orbital mass is a rare occurrence but can arise from many patholologies
The list includes
Tumourous orbital masses
fetal orbital teratoma
Non tumourous orbital masses
orbital encephalocoele 2
orbital heterotopic brain tissue 1
congenital cystic eyeball 4
Although rare, a number to tumours may be diagnosed antenatally. These fetal tumours are a diverse and a unique group of conditions, and include:
neuroblastoma: most common tumour overall
head and neck teratoma/epignathus
Fibrodysplasia ossificans progressiva (FOP), previously known as myositis ossificans progressiva (MOP), is a rare, inherited disorder characterised by progressive fibrosis and ossification of muscles, tendons, fasciae, aponeuroses, and ligaments of multiple sites. It is disabling and ultimately ...
Fibromatosis colli is a rare form of infantile fibromatosis that occurs within the sternocleidomastoid muscle (SCM).
There may be a slight male predilection. It typically presents a few weeks after birth.
Presentation is usually with torticollis and is most...
Fibrosing colonopathy a condition characterised by progressive submucosal fibrosis, particularly of the proximal colon. It is associated with high dose lipase supplementation used to treat exocrine insufficiency of the pancreas, such as in treatment for cystic fibrosis.
It is more...
Fibrous cortical defects (FCD) are benign bony lesions and are a type of fibroxanthoma, histologically identical to the larger non-ossifying fibroma (NOF).
Fibrous cortical defects typically occur in children (usually 2-15 years), and indeed are one of the most common benign bony ...
Fibrous dysplasia (FD) is a non-neoplastic tumour-like congenital process, manifested as a localised defect in osteoblastic differentiation and maturation, with the replacement of normal bone with large fibrous stroma and islands of immature woven bone. Fibrous dysplasia has a varied radiographi...
Fibroxanthoma of bone is a confusing term that is sometimes used to encompass non-ossifying fibroma and fibrous cortical defect, and at other times synonymously with just non-ossifying fibromas. As non-ossifying fibroma and fibrous cortical defect are histologically the same, and differ only in ...
Fibular hemimelia is a congenital lower limb anomaly characterised by partial or complete absence of the fibula and includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia 1.
Although rare in occurrence, it is the most common congenital absence of long...
The flat floor of fourth ventricle sign is useful in detecting a pontine mass and is a sign of mass effect. The normal floor of the fourth ventricle (remember that the floor is anterior) normally slopes upwards towards the midline, with the facial colliculi visible on either side.
It is a non-...