Ritscher-Schinzel syndrome (RTSC), also known as 3C (cranio-cerebello-cardiac) syndrome, is a rare entity with a variable spectrum of CNS (primarily cerebellar), craniofacial, and congenital heart defects.
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
intrauterine growth restriction
postnatal growth retardation
failure to thrive
Robin sequence, also called Pierre Robin syndrome or Pierre Robin anamaloid, is a congenital condition characterised by facial abnormalities. Its aetiology has no genetic base, but rather, is reliant on a sequence of events, one following the other.
Robin sequence is the preferred ...
Round pneumonia is a type of pneumonia usually only seen in paediatric patients. They are well defined, rounded opacities that represent regions of infected consolidation.
The mean age of patients with round pneumonia is 5 years and 90% of patients who present with round pneumonia...
Sacral agenesis (also considered as part of the caudal regression syndrome) is a rare and severe sacral developmental abnormality.
In normal pregnancy, the incidence is between 0.005 and 0.1%. However, in fetuses with diabetic mothers, the incidence rises to 0.2%. Of those with th...
Sacral dimples are a clinical and radiological feature that is associated with occult spinal dysraphism (e.g. tethered cord syndrome) but are more frequently a non-significant isolated finding.
Common in healthy children (~5%) 1.
Simple sacral dimples have the followin...
Sacrococcygeal teratoma (SCT) refers to a teratoma arising in the sacrococcygeal region. The coccyx is almost always involved 6.
It is the commonest congenital tumour in the fetus 11 and neonate 3. The incidence is estimated at ~1:35000-40000. There is recognised female predilecti...
SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies.
The syndrome results from a mutation in ...
The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly.
Its main features include:
congenital limb abnormalities
congenital heart defects
History and etymology
Salla disease, also known as Finnish type sialuria, is a rare autosomal recessive disease that primarily affects the central nervous system. It is considered the mildest form of free sialic acid storage disorder.
Neurological symptoms related to this rare disease are usua...
The Salter-Harris classification was proposed by Salter and Harris in 1963 1 and at the time of writing (June 2016) remains the most widely used system for describing physeal fractures.
Conveniently the Salter-Harris types can be remembered by the mnemonic SALTR.
Useful mnemonics for remembering the Salter-Harris classification system are:
Fortunately, this is also the order of prognosis (from best to worse)
S: slipped (type I)
A: above (type II)
L: lower (type III)
T: through or transverse or together (type IV)
Salter-Harris type I fractures are relatively uncommon injuries that occur in children. Salter-Harris fractures are injuries where a fracture of the metaphysis or epiphysis extends through the physis. Not all fractures that extend to the growth plate are Salter-Harris fractures.
Salter-Harris type II fractures are the most common type of physeal fractures that occur in children. There is a fracture that extends through the physis and into a portion of the metaphysis. A triangular metaphyseal fragment, otherwise known as the Thurston Holland fragment, will be left intact...
Salter-Harris type III fractures are an uncommon, intraarticular fracture physeal fractures that occur in children.
The fracture line is often obliquely orientated through the epiphysis to the physis where it will take a horizontal orientation extending to the edge of the physis.
Salter-Thompson classification for Legg-Calve-Perthes disease simplifies the Catterall classification into 2 groups. Based on the radiographic crescent sign, we can distinguish:
group a: including Catteral groups I and II, where the crescent sign involves less than 50% of the femoral head.
A scalp haematoma usually occurs following an injury at delivery although they are commonly seen with head trauma.
There are three types of haematoma, which are defined by their location within the scalp, particular their location as related to the galea aponeurosis and skull pe...
Scaphocephaly (also known as dolichocephaly) is the most common form of craniosynostosis, where premature closure of the sagittal suture results in impediment to lateral growth of the skull while anteroposterior growth continues, producing a narrow elongated skull. Causes are primary, or seconda...
The Scham sign of slipped capital femoral epiphysis is one of the subtle signs that may be seen on the AP view of an adolescent hip with early slip.
In the normal adolescent hip, an intraarticular portion of the diaphysis of the collum overlies the posterior wall of the acetabulum inferiomedial...
Schizencephaly is a rare cortical malformation that manifests as a grey matter lined cleft extending from the ependyma to the pia mater.
Some authors do not use the term schizencephaly, preferring to group these disorders under the blanket term of porencephaly. For the purpose of t...
Scimitar syndrome, also known as hypogenetic lung syndrome, is characterised by a hypoplastic lung that is drained by an anomalous vein into the systemic venous system. It is a type of partial anomalous pulmonary venous return and is one of the several findings in congenital pulmonary venolobar ...
Sclerosing bone dysplasias comprise a heterogeneous group of disorders (skeletal dysplasias) united by the presence of sclerosis of one form or another. Some of these entities are thought to be related (e.g. osteopoikilosis, melorheostosis and Buschke-Ollendorff syndrome) 1.
Scoliosis is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities.
By definition, a scoliosis is any lateral spina...
The Senning repair is one of two "atrial switch" procedures used to functionally correct transposition of the great arteries (the other being the Mustard repair).
The two repairs share a similar fundamental principle. Systemic blood flow is redirected away from the right ventricle and toward t...
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterised by optic nerve hypoplasia and absence of septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction. It is best thought of as being part of the holoprosencephaly spectrum (see cl...
Sexual differentiation refers to the embryological development of male and female phenotypes. Unlike sexual genotype which is determined at the time of fertilisation, the male and female phenotypes do not begin to differentiate substantially until the seventh week of gestation.
Shone syndrome, also known as Shone complex, is a rare syndrome characterised by left-sided, obstructive congenital heart defects.
Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease 1.
Patients, usually ne...
Short limb skeletal dysplasias are skeletal dysplasias which are charcaterised by limb shortening
Rhizomelic (proximal limb shortening)
particularly type II
SHORT syndrome refers to an acronym which primarily comprises of the following features:
S: short stature
H: hyperextensibility of joints and/or inguinal hernia
O: ocular depression
R: Rieger anomaly
T: teething delay
In a addition to these there can be numerous associated minor features w...
The shoulder sign of pyloric stenosis is seen during barium examination and refers to the bulging of the hypertrophied pyloric muscle into the lumen of the antrum.
It is closely related to the cervix sign of pyloric stenosis.
cervix sign of pyloric stenosis
target sign of pyloric s...
The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterised by 1 :
exocrine pancreatic insufficiency
bone marrow hypoplasia (cyclic neutropenia)
Patients with Shwachman-...
Skeletal manifestations of sickle cell disease result from three interconnected sequelae of sickle cell disease 5:
vaso-occlusive crises resulting in bone infarcts and subperiosteal haemorrhages
chronic anaemia resulting in expansion of the medullary spaces
These, in turn, can pre...
Simple pancreatic cysts, also known as true epithelial cysts or retention cysts, are unilocular cysts within the pancreas, lined by a monolayer of epithelium, which lack communication with the pancreatic ducts 1,5. In contradistinction to other solid viscera, simple cysts in the pancreas are a r...
Sincipital encephalocoeles are congenital herniations of cerebral parenchyma through a cranial defect. There are three main types 1,2:
frontonasal encephalocoele (~50%): more common in Asia and Latin America 4
naso-ethmoidal encephalocoele (30%): more common in North America 4
Sinding-Larsen-Johansson disease (SLJ), also known as Sinding-Larsen disease or Larsen-Johansson syndrome, affects the proximal end of the patellar tendon as it inserts into the inferior pole of the patella. It represents a chronic traction injury of the immature osteotendinous junction. It is a...
Single umbilical artery (SUA) results when there is a congenital absence of either the right or left umbilical artery. In the usual situation, there are paired umbilical arteries. For unknown reasons, the absence of the left umbilical artery is much more common (~70%).
Sinus pericranii is a cranial venous anomaly in which there is an abnormal communication between intracranial dural sinuses and extracranial venous structures, usually via an emissary transosseous vein.
It is considered a type of low flow vascular malformation. It occurs in close communication ...
Situs classification can be a daunting topic, but it falls into three main groups :
situs solitus: the normal configuration of thoracic and abdominal organs
situs inversus: mirror image of normal
situs ambiguus: an intermediate configuration with duplication (isomerism)
Situs is best thought...
Situs solitus refers to the normal position of the thoracic and abdominal organs.
On plain radiograph, careful attention should be directed at the location of the aortic arch, gastric fundus, cardiac apex, pulmonary fissures and the branching pattern of ...
The Sitz marker study is an older technique to estimate colonic transit time.
In constipation it can help distinguish between slow colonic transit and a defecation disorder.
The patient ingests a number of radio-opaque markers (plastic rings containing radio-opaque mat...
Skeletal dysplasia (also known as osteochondrodysplasia) refers to any abnormality in bone formation. There is a very wide clinicopathological spectrum and any part of the skeleton can be affected.
The overall prevalence is estimated at ~2 per 10,000 live births 3.
Slipped upper femoral epiphysis (SUFE), also known as a slipped capital femoral epiphysis (SCFE), is a relatively common condition affecting the physis of the proximal femur in adolescents. It is one of the commonest hip abnormalities in adolescence and is bilateral in ~20% of cases.
This is a basic article for medical students and other non-radiologists
Slipped upper femoral epiphysis (SUFE), also known as a slipped capital femoral epiphysis (SCFE), is a relatively common condition affecting the physis of the proximal femur in adolescents. It is one of commonest hip abnor...
Small bowel atresia corresponds to malformations where there is a narrowing or absence of a portion of the small bowel, which includes:
A number of tumours share similar histology, composed of relatively uniform primitive small round blue cells. They also share many demographic, radiographic and clinical similarities. They include:
Snowman sign refers to the configuration of the heart and the superior mediastinal borders resembling a snowman. This is seen in total anomalous pulmonary venous return (TAPVR) type I (supracardiac type).
It is an abnormality of the fetal circulation wherein the entire pulmonary venous flow is ...
The differential diagnosis of a solitary sclerotic bone lesion is heavily influenced by the age of the patient, and includes:
solitary either because no others are present or no others have been imaged
enostosis (bone island)
The sphenoidal or anterolateral fontanelles (or fontanels) are paired bilateral soft membranous gaps at the junction of the coronal, sphenofrontal, sphenoparietal, sphenosquamosal, and squamosal sutures. Each mastoid fontanelle persists until approximately six months after birth, after which it ...
Spinal dysraphism is a broad term given to a group of anomalies where there are malformations in the dorsum of the embryo. Neural tube defects come under this group as well.
There is often abnormal fusion of the midline embryonic neural, vertebral and mesenchymal structures.
Spinal muscular atrophy (SMA) is a type of congenital neuromuscular disease affecting anterior horn cells of the brainstem and spinal cord.
This disorder affects 1 in 6000-10000 infants 1.
The condition typically affects infants and young children, presenti...
Spinal neurenteric cysts are a rare type of foregut duplication cyst, accounting for ~1% of all spinal cord tumours. They are usually classified as spinal or intracranial and are associated with vertebral or CNS abnormalities respectively.
Neurenteric cysts result from incomplete re...
The spleen size varies with a child's age.
The three numbers below represent the 10th percentile, median, and 90th percentile for the long axis of the spleen (cm)
0-3 months: (3.3, 4.5, 5.8 cm)
3-6 months: (4.9, 5.3, 6.4 cm)
6-12 months: (5.2, 6.2, 6.8 cm)
1-2 years: (5.4, 6.9, 7.5 cm)
Spondylocostal dysostosis (SCDO) is a rare condition characterised by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...
Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centres.
short trunk with protruding abdomen
craniovertebral junction stenosis
Sprengel deformity, or congenital elevation of the scapula, is a complex deformity of the shoulder and is the most common congenital shoulder abnormality. An initial diagnosis can often be made on radiography, but CT or MRI is often necessary to evaluate the details of the abnormality.
Strawberry skull refers to the shape of the head on an antenatal ultrasound.
In general, strawberry skull is considered one of the non-specific 'soft markers' for abnormal fetal development. It is considered more closely associated with trisomy 18 (Edward syndrome).
Brain ischaemia/infarction in children and young adults can result from several causes.
cyanotic heart disease
mitral valve prolapse
Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas.
It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome (CAMS).
Subacute sclerosing panencephalitis (SSPE), also known as Dawson disease, is a rare chronic, progressive and fatal encephalitis that affects primarily children and young adults, caused by a persistent infection of immune resistant measles virus.
1 in 100,000 people infected with ...
Subcortical leukomalacia corresponds to a continuous disease spectrum of periventricular leukomalacia (PVL) as the vascular border zones shift towards the periphery as the brain further matures. For this reason white matter lesions move from the periventricular to the subcortical zone.
Subgaleal haematoma describes scalp bleeding in the potential space between the periosteum and the galea aponeurosis. It is a rare but possibly lethal emergency.
Moderate to severe presentations occur in 1.5 of 10 000 live births. It most commonly occurs after vacuum-assisted and ...
Grading of SUFE (slipped upper femoral epiphysis) can be made on both AP and true lateral projections.
On a AP radiograph a line along the superior margin of the femoral neck (line of Klein) should intersect the lateral corner of the epiphysis.
As the epiphysis slips, the metaphysis can be di...
Supracondylar humeral fractures, often simply referred to as supracondylar fractures, are a classic paediatric injury which require vigilance as imaging findings can be subtle.
Simple supracondylar fractures are typically seen in younger children, and are uncommon in adults; 90% a...
Syndactyly refers to a congenital fusion of two or more digits. It may be confined to soft tissue (soft tissue syndactyly / simple syndactyly) or may involve bone (bony syndactyly / complex syndactyly).
The overall estimated incidence is at ~1 per 2,500 to 5,000 live births 6,8. T...
Syphilis is the result of infection with the gram negative spirochete Treponema pallidum, subspecies pallidum. It results in a heterogeneous spectrum of disease with many systems that can potentially be involved, which are discussed separately.
Despite the discovery of penicillin...
The Takeuchi procedure refers to a direct anastomosis of the anomalous left coronary artery from the pulmonary artery directly to the aorta was described in the 1970s and currently remains the procedure of choice.
An intrapulmonary aortocoronary tunnel or baffle was performed by Takeuchi prior ...
Tamm-Horsfall proteins, also known as uromodulin, may be a cause of echogenic renal pyramids in a neonate.
Tamm-Horsfall proteins are physiologically excreted by the renal tubular epithelium. They are most often encountered on neonatal renal ultrasound, where the concentrated proteins in the re...
The target sign of intestinal intussusception, also known as the doughnut sign or bull's eye sign.
The appearance is generated by concentric alternating echogenic and hypoechogenic bands. The echogenic bands are formed by mucosa and muscularis whereas the submucosa is responsible fo the hypoec...
The target sign of pyloric stenosis is a sign seen due to hypertrophied hypoechoic muscle surrounding echogenic mucosa, seen in pyloric stenosis. This is likened to that of a target.
antral nipple sign
cervix sign of pyloric stenosis
shoulder sign of pyloric stenosis
Taussig-Bing anomaly is a rare congenital heart malformation and is one of the variants of double outlet right ventricle. It consists of transposition of the aorta to the right ventricle and malposition of the pulmonary artery with subpulmonary ventricular septal defect.
History and etymology
Tc-99m DMSA (dimercaptosuccinic acid) is a technetium radiopharmaceutical used in renal imaging to evaluate renal structure and morphology, particularly in paediatric imaging for detection of scarring and pyelonephritis. DMSA is an ideal agent for the assessment of renal cortex as it binds to th...
Tc-99m pertechnetate is one of the technetium radiopharmaceuticals used in imaging of thyroid, colon, bladder and stomach.
photon energy: 140 keV
biological half-life: 6 hours
normal distribution: stomach, thyroid, salivary glands, (testicles)
Technetium agents based on the technetium-99m (Tc-99m) radioisotope are frequently used agents in medical imaging. The radioactive technetium radiotracer can be chelated to a number of different compounds to create specific radiopharmaceuticals and optimise the functional imaging of various stru...
Tectal beaking refers to the fusion of the midbrain colliculi into a single beak pointing posteriorly and invaginating into the cerebellum. It is seen with a Chiari type II malformation.
The term bird beak sign is used in a number of other contexts: see bird beak sign (disambiguati...
Tectal gliomas fall under the grouping of childhood brainstem gliomas and unlike the other tumours in that group they are typically low grade astrocytomas with good prognosis.
Tectal plate gliomas are encountered in children and adolescents 4. A male predilection has sometimes be...
A telephone receiver deformity is a characteristic bowing of the shaft of the long bones, usually the humeri or femora, seen in thanatophoric dysplasia.
Tension gastrothorax describes a rare life-threatening condition caused by mediastinal shift due to a distended stomach herniating into the thorax through a diaphragmatic defect.
Presentation is generally with acute and severe respiratory failure, with clinical features ...
Terminal myelocystoceles are an uncommon form of spinal dysraphism representing marked dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The result is a skin-covered mass in the lower lumbar region, consisting of an ependyma-lined sac.
The terminal zones of myelination are located at the posterior aspect of the lateral ventricles (the peritrigonal regions) and are the only part of the cerebral white matter that may exhibit high T2 signal in a normal brain at 2 years of age, when myelination of cerebral white matter normally be...
Testicular descent occurs after the fourth month of fetal life. The testes are derived from the gonadal ridge medial to the mesonephric ridge of the intermediate cell mass. An elongated diverticulum of the peritoneal cavity, the processus vaginalis precedes the testis through the inguinal canal ...
Tethered spinal cord syndrome, also known as an occult spinal dysraphism sequence, is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.
The condition is closely linked to spina bifida, and as such pre...
Tetralogy of Fallot (TOF) is the overall most common cyanotic congenital heart condition with many cases presenting after the newborn period. It has been classically characterised by the combination of ventricular septal defect (VSD), right ventricular outflow tract obstruction (RVOTO), overridi...
Thalassaemia is an autosomal recessive haemoglobinopathy that originated in the Mediterranean region. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal haemoglobin molecules. The resultant microcytic anaemia is the characteristic p...
Thalidomide embryopathy refers to a syndrome resulting from in utero exposure to thalidomide, and is characterized by multiple fetal anomalies. Fetal exposure to thalidomide occurred primarily from 1957 to 1961, when it was used as a treatment for nausea in pregnant women.
Thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.
The estimated incidence is around 1:25,000-50,000 3.
It results from a mutation coding for the fibroblas...
Thoracopagus conjoined twins are, as the name suggests, conjoined twins united at their thorax.
Fusion is typically face-to-face, at the upper thorax to the umbilicus with a common sternum, diaphragm, and upper abdominal wall. Very often a common pericardial sac is present as well as a degree o...
Thrombocytopenia with absent radius (TAR) syndrome is primarily characterised by the following two features:
absent fetal radii (bilaterally) with the presence of both thumbs
The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
The thumb sign in epiglottitis is a manifestation of an oedematous and enlarged epiglottis which is seen on lateral soft-tissue radiograph of the neck, and it suggests a diagnosis of acute infectious epiglottitis. This is the radiographic corollary of the omega sign 1-3.
Thumb sign is...
The Thurstan Holland fragment also known as the Thurstan Holland sign is an eponymous radiological sign depicting a triangular portion of the metaphysis remaining with the epiphysis in a physeal fracture. This fragment is one of the tell-tale signs of a type 2 Salter-Harris fracture 1.
Thymic hyperplasia is a disorder whereby there is hyperplasia of the thymus gland.
Thymus hyperplasia can be subdivided into two forms:
true thymic hyperplasia
Both true thymic hyperplasia and lymphoid hyperplasia manifest as diffuse symmetric enlargement of...
The thymic notch sign represents the normal thymus in a newborn on a frontal chest radiograph. Interruption of the cardiac silhouette forms a notch, which may be seen on either side, but more frequently is seen on the left side.
The thymic sail sign represents a triangular-shaped inferior margin of the normal thymus seen on a neonatal frontal chest radiograph. It is more commonly seen on the right side, but can also be bilateral. It is seen in 3-15% of all cases. This sign should not be confused with the spinnaker sail ...
Thyroglossal duct cysts (TGDC's) are the most common type of congenital neck cysts and paediatric neck masses. They are typically located in the midline and are the most common midline neck mass in young patients. They can be diagnosed with multiple imaging modalities, including ultrasound, CT, ...