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...
The extrusion index is a radiographic measurement of femoral head bony coverage by the acetabulum. It is useful in assessing for developmental dysplasia as well as femoroacetabular impingement.
It is calculated by dividing the horizontal distance of the lateral femoral head that is uncovered by...
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 ...
Facioscapulohumeral muscular dystrophy (FSHD) is a form of muscular dystrophy characterised by extremely variable degrees of facial, scapular and lower limb muscle involvement.
It is considered one of the more common hereditary muscular disorders with a prevalence of ~1 in 8,000.
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
Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1.
Femoral facial syndrome can cause varying degrees of femoral malformation rang...
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.
There may be a slight male predilection. It typically presents a few weeks after birth.
Presentation is usually with torticollis and is most frequ...
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...
Fibrous hamartoma of infancy is a rare benign tumour of the subcutaneous tissues seen in children. More than 90% of cases present in the first year of life with up to 25% being congenital 1.
There is a reported male:female ratio of 2:1 but the exact incidence is unknown 2.
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...
A filar cyst is an incidental finding on neonatal lumbar sonography located in the filum terminale of the spinal cord. It is considered a normal variant and is often confused for a ventriculus terminalis, a smooth dilated cavity of the central canal, located within the conus medullaris.
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-...
Focal periphyseal oedema zones, also known as FOPE zones, are regions of bone marrow oedema seen on MRI that are principally located at the physes about the knee. They are thought to represent potentially painful manifestations of physiologic physeal fusion 1.
FOPE zones are seen ...
The weightbearing lateral foot radiograph is important in the assessment of foot alignment and the diagnosis of abnormalities that cause malalignment and foot pain. Nonweightbearing views (e.g. oblique foot radiograph) are inadequate for the assessment of alignment because the bones of the feet ...
The foramen ovale (or ovalis) is the opening in the interatrial septum in the fetal heart that allows blood to bypass the right ventricle and non-ventilated lungs, shunted from the right atrium to the left atrium. Specifically it represents the opening between the upper and lower portions of the...
The fossa ovale (or ovalis) is the small oval depression in the interatrial septum at the site of the closed foramen ovale, which closes once fetal circulation ceases in the first few minutes of postnatal life. It represents the overlapping primary and secondary septa of the interatrial septum. ...
The fountain sign is sonographic sign described in acute idiopathic scrotal edema (AISE).
It refers to the appearance of the pattern of vascularity seen during transverse colour Doppler sonography of the scrotum with both testes together1. In these transverse views in patients with AISE, marked...
A fourth ventriculocoele is large posterior fossa cyst which remodels, thins and eventually erodes through the occipital bone to form an occipital encephalocoele.
It may be classified as part of the Dandy-Walker continuum, but this is controversial.
Fraser syndrome is an extremely rare congenital syndromic anomaly.
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
The syndromic spectrum can comprises of:
syndactyly: often cutaneous
Frontal bossing is a calvarial radiographic feature where the front of the skull appears protruding anteriorly. It is best appreciated on a sagittal or lateral image.
This feature can be seen in many conditions (in alphabetical order):
Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterised by midline defects involving the face, head, and central nervous system.
Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
The Frykman classification of distal radial fractures is based on the AP appearance and encompasses the eponymous entities of Colles fracture, Smith fracture, Barton fracture, chauffeur fracture. It assesses the pattern of fractures, involvement of the radioulnar joint and presence of a distal u...
Fukuyama congenital muscular dystrophy (FCMD) is a form of congenital muscular dystrophy.
FCMD is almost exclusively found in Japan where it has an incidence of 2-4 per 100,000 infants and is the second most common muscular dystrophy after Duchenne muscular dystrophy 1,2. However,...
Gage sign is a V-shaped lucent defect at the lateral portion of the epiphysis and/or adjacent metaphysis. It is pathognomonic for Legg-Calve-Perthes disease.
It may occur early in the disease and is one of the five indicators of a worse prognosis, which are:
calcification lateral t...
Galeazzi fracture-dislocations consist of fracture of the distal part of the radius with dislocation of distal radioulnar joint and an intact ulna. A Galeazzi-equivalent fracture is a distal radial fracture with a distal ulnar physeal fracture 2.
Galeazzi fractures are primarily e...
Gallbladder ghost triad is a term used on ultrasound studies when there is a combination of three gallbladder features on biliary atresia:
atretic gallbladder, length less than 19 mm
irregular or lobular contour
lack of smooth/complete echogenic mucosal lining with an indistinct wall
Ganglioneuromas are fully differentiated neuronal tumours that do not contain immature elements and potentially occur anywhere along the peripheral autonomic ganglion sites.
On imaging, usually, they present as well-defined solid masses and can be quite large at presentation. Generally, they a...
A gastric duplication cyst is a rare congenital foregut duplication cyst affecting the stomach. It accounts for less than 10% of all gastrointestinal duplications. The most common site of gastrointestinal tract duplication cysts (GTDCs) is the ileum, followed by oesophagus, large bowel and jejun...
Gastro-oesophageal reflux disease (GORD) is a spectrum of disease that occurs when gastric acid refluxes from the stomach into the lower end of the oesophagus across the lower oesophageal sphincter (LOS).
Common clinical features in adults include epigastric and retroster...
Gastroschisis refers to extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions or the stomach and or liver) into the amniotic cavity through a para-umbilical abdominal wall defect.
The estimated incidence is at around 1-6 per 10,000...
Gaucher disease (GD) is the most common lysosomal storage disease in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrop...
The causes of generalised increased bone density in paediatric patients can be divided accodring to broad categories of cause :
dense metaphyseal bands
cortex and flat bones may also be sligh...
The Gerbode defect describes a rare abnormal left-to-right shunt between the left ventricle and right atrium through a defect in the atrioventricular septum, usually congenital in aetiology.
Gerbode defects are rare congenital cardiac anomalies, and are thought to account for less...
Germinal matrix haemorrhages, also know as periventricular-intraventricular haemorrhages (PVIH), are the commonest type of intracranial haemorrhage in neonates and are related to a perinatal stress affecting the highly vascularised subependymal germinal matrix. The majority of cases occur in pre...
Grading of germinal matrix haemorrhage has taken several forms over the years. The most commonly used system is the sonographic grading system proposed by Burstein, Papile et al.
restricted to subependymal region/germinal matrix which is seen in the caudothalamic groov...
Ghost vertebra is a sign, that is generally used synonymously with bone-within-a-bone vertebra, and as such, the causes form a subset of those causing bone within a bone appearance 2:
Thorotrast administration: bone within a bone appearance due to temporary growth arrest 1
Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. It has a highly variable clinical presentation, and laboratory investigations are not always diagnostic. Imaging, therefore, has an important role to play as the MRI features can be characteristic.
Glycogen storage disease (GSD) refers to a number of syndromes which are characterised by a defect in synthesis, metabolism or storage of glycogen.
There are many types of GSD:
type I: von Gierke disease
type II: Pompe disease
type III: Cori or Forbes disease
type IV: Andersen di...
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel 1.
It occurs approximately one in every 100,000 live births ...
Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia) is a complex congenital anomaly characterised by abnormalities of the ears, eyes and vertebrae.
The estimated incidence is at 1 in 3000-500...
Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterised by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.
History and etymology
It is named after Manuel ...
Gonadal dysgenesis refers to a spectrum of anomalies with abnormal development of the gonads. It falls under the even broader group of disorders of gender development.
In many cases the gonads are replaced by fibrous tissue.
complete gonadal dysgenesis (CGD) / Swyer syndro...
Gonadoblastomas are uncommon sex cord / stromal tumours. They are associated with disorders of sexual development (previously known as "intersex disorders").
The vast majority are found <30 years of age. Most are discovered in the perinatal period. May occur in phenotypic males or...
The causes of gracile bones can be recalled with the following mnemonic:
M: muscular dystrophy, e.g. Duchenne muscular dystrophy
R: rheumatoid arthritis (juvenile RA)
O: osteogenesis imperfecta
D: dysplasia, e.g. Marfan syn...
The Graf method for ultrasound classification system for developmental dysplasia of the hip (DDH) in infants, combines both alpha and beta angles. There are a number of additional subdivisions, which are often not used clinically.
As a general rule, the alpha angle determines the type and in s...
Granulocytic sarcoma (also called myeloid sarcoma and chloroma) is a rare neoplasm comprised of myeloid precursor cells.
It is typically seen is in children with ~60% occurring in individuals less than 15 years of age. There is no recognised gender predilection.
Greenstick fractures are incomplete fractures of long bones and are usually seen in young children, more commonly less than 10 years of age. They are commonly mid-diaphyseal, affecting the forearm and lower leg. They are distinct from torus fractures.
Greenstick fractures ...
The grey matter heterotopias are a relatively common group of conditions characterised by interruption of normal neuronal migration from near the ventricle to the cortex, thus resulting in "normal neurons in abnormal locations" 2. They are a subset of disorders of cortical formation 3-4.
Growth arrest lines, also known as growth resumption lines, Harris lines or Park lines, are alternating transverse rings of sclerosis at the metaphysis of a long bone.
The radiographic finding occurs from alternating cycles of osseous growth arrest and growth resumption. This appears...
Gymnast wrist is a term that used to describe variety of chronic overuse injuries of the wrist in gymnasts with immature skeleton. Gymnast wrist is a combined of osseous and ligamentous injury and usually manifests as a chronic Salter-Harris type I fracture of the distal radial physis on radiogr...
Haematuria in a child is evaluated differently than in an adult in two main respects:
there is a lower likelihood of a malignancy (renal or bladder) causing the haematuria
preference is given to nonionizing radiation
Haematuria can be considered in three main forms:
Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.
There are two forms of this syn...
Haemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome, is a non-malignant disorder of immune regulation characterised by overproduction of cytokines and diminished immune surveillance. It may affect multiple organs and is one of the few entities which demonstrat...
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder.
The exact prevalence is unknown.
The cardinal features of HANAC syndrome are helpfully described in the name of...
Hand-foot-and-mouth disease is a viral illness that manifests as vesicular eruptions on the hands and feet as well as painful ulcers of the oral mucosa. Symptoms usually resolve spontaneously in 7-10 days.
In most cases, there is a prodrome of fever, vomiting, diarrhoea, anorexia, and malaise.
Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterised by a widespread erythema, oedema and ulceration of the hands and feet.
Hand-foot syndrome, also simply referred to as dactylitis, is a self-limiting manifestation of a vaso-occlusive crisis in individuals with sickle cell anaemia.
Dactylitis is not a specific finding in sickle cell disease, therefore cautious usage is advised if one chooses to employ ...
The harlequin eye deformity may be seen in unilateral (plagiocephaly) or bilateral (brachycephaly) coronal suture synostosis, and refers to the elevation of the superolateral corner of the orbit.
The term harlequin eye derives from the appearance of the eyes on a harlequin mask with their exagg...
Harrison's sulcus or Harrison's groove refers to a groove at the lower end of the rib cage seen in young children / infants with abnormally weak bones (e.g. rickets) or chronic respiratory disease (e.g. severe asthma). The lower chest is drawn in with flaring of the rib margin. The exact cause i...
The haystack sign on chest x-rays in paediatric patients is indicative of pneumomediastinum. The paediatric heart is surrounded above and below with gas, giving it an appearance of a haystack from Monet's paintings.
The Heiner syndrome is a rare form of primary pulmonary haemosiderosis associated with an allergy to cow's milk. The syndrome includes:
rectal blood loss with hypochromic microcytic anaemia
pulmonary infiltrates (often recurrent)
Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy.
It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation.
Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth all or a part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2.
Hemimegalencephaly is a cryptogen...
Hepatic mesenchymal hamartoma is an uncommon benign hepatic tumour. Some authors even consider this to be a developmental anomaly rather than a cystic neoplasm 9,12.
It typically occurs in children and neonates, with most cases presenting within the first two years of life 3. Ther...
Hepatoblastoma is the most common primary malignant liver tumour in children under four years of age who usually present with painless abdominal mass and raised AFP. It is tumour of embryonic origin.
Most cases are seen during the first 18 months of life and diagnosis in adulthood...
Although hepatoblastomas can be histologically classified into a variety of sub types, it is important to remember that with the possible exception of small cell undifferentiated sub type, prognosis is independent of histology when adjusted for stage gender and age 1.
As expected there are a number of different staging systems for hepatoblastoma.
PRETEXT grouping system of paediatric liver tumours
not specific to hepatoblastoma; used in all paediatric liver tumours
Intergroup staging system
specific for hepatoblastoma (see below)
Hereditary connective tissue diseases are a group of connective tissue disease that have a degree of inheritance risk. They include :
Marfan syndrome - genetic disease causing abnormal fibrillin
Ehlers-Danlos syndrome - progressive deterioration of collagen and affects joints, heart v...
Hereditary multiple exostoses, also known as diaphyseal aclasis, is an autosomal dominant condition, characterised by the development of multiple osteochondromas.
Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in fem...
Herpes simplex (HSV) encephalitis is the most common cause of fatal sporadic fulminant necrotising viral encephalitis and has characteristic imaging findings.
Two subtypes are recognised which differ in demographics, virus, and pattern of involvement. They are 1:
neonatal herpes encephalitis
Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left and right distribution of the thoracic and abdominal organs which does not entirely correspond to the complete or partial mirror image.
It occurs ...
Hiccups (or hiccoughs), medical term singultus (rarely used), are an unpleasant phenomenon, experienced by everyone on occasion, and usually self-limiting. However the much rarer intractable chronic form can be extremely debilitating.
Hiccups are a symptom that has probably been e...
The Hilgenreiner line is a line drawn horizontally through the inferior aspect of both triradiate cartilages. It should be horizontal, but is mainly used as a reference for Perkin line and measurement of the acetabular angle.
Use of this line with the other lines and angles is used to diagnose ...
Hindfoot valgus refers to malalignment of the hindfoot in which the mid-calcaneal axis is deviated away from the midline of the body.
On the DP view, this results in an increase in the angle between the mid-calcaneal axis and the mid-talar axis (talocalcaneal angle) 1.
Despite abduction of th...
Hindfoot varus describes a relatively varus position of the calcaneus which is adducted and rotated under the talus. This is best appreciated on a weightbearing DP foot radiograph as a relative reduction in the angle formed between the mid-talar and mid-calcaneal axes (the talocalcaneal angle).
Hindfoot equinus describes abnormal plantarflexion (calcaneotibial angle >90°) of the foot that occurs in the hindfoot. It occurs in congenital talipes equinovarus and congenital vertical talus.