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 manifesta...
Cystic hygroma (CH) refers to a type of congenital lymphangioma
They usually occur in the fetal/infantile and paediatric populations with most lesions presenting by the age of two. The estimated prevalence in the fetal population is 0.2-3%.
Patients in t...
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 gangliogliomas are a form of desmoplastic infantile tumours, and despite their aggressive appearances tend to have a good prognosis.
The vast majority occur in children with less than one year of age, and males are more commonly affected with a M:F ratio of...
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 are infiltrating astrocytomas, variably classed as WHO II, III or IV tumours which account for 60-75% of all brainstem gliomas, and are most commonly located within the pons.
More recently it has become apparent that a large proportion of these tumours (particularly di...
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, pyloric fluid compressed into smaller tracks as it is impinge...
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).
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
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 (trisomy13), make up the only three trisomies to be compatible with extra-uterine 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 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 egg...
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
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 tumors 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 tumors with multilayered rosettes (ETMR) where known as em...
Encephalocoele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocoele 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 o...
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 ...
Ependymoma RELA fusion-positive is a recently accepted variant of ependymoma, only recognised in the 2016 update to the WHO classification of CNS tumours.
It has been found that this variant is responsible for the majority of supratentorial ependymomas in childhood 1.
Epicondylar 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 physiothe...
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 male: female ratio of 3:1.
In males, three types are described - glandular, penile and complete. Glandular form is most ...
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.
The exact aetiology is unknown and the disease is a non hereditary disorder. It occurs predominantly in young males, with the ...
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 t...
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 replacement of normal bone with large fibrous stroma and islands of immature woven bone. FD has a varied radiographic appearance. If th...
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 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 bon...
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 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. ...
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):
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. It is an autosomal recessive disease and the second most common muscular dystrophy in Japan 1.
Patients are hypotonic at birth. Cerebellar dysplasia, retinal dysplasia and gyral mal...
Gage sign is a V-shaped lucent defect at the lateral portion of the epiphysis and/or adjacent metaphysis. It is pathognomonic to 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...
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 (GTDC's) are the ileum, followed by oesophagus, large bowel and jej...
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...
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...
Germinal matrix haemorrhages, also know as periventricular-intraventricular haemorrhages (PVIH), correspond to the most common type of intracranial haemorrhage in neonates and are related to a perinatal stress affecting the highly vascularised subependymal germinal matrix. The majority of cases ...
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...
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 1. 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/Forbe disease
type IV: Andersen diseas...
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...