Pyknodysostosis, also known as osteopetrosis acro-osteolytica or Toulouse-Lautrec syndrome, is a rare autosomal recessive bone dysplasia, characterised by osteosclerosis and short stature.
Patients present in early childhood with:
short stature, particularly limbs
Hypertrophic pyloric stenosis (HPS) refers to the idiopathic thickening of gastric pyloric musculature which then results in progressive gastric outlet obstruction.
Pyloric stenosis is relatively common and has a male predilection (M:F ~4:1), and is more commonly seen in Caucasia...
Rachipagus twins are extremely rare type of conjoined twins. They are joined in the dorsal aspect and face away from each other.
Fusion of the occiput with varying segments of the vertebral column may occur, resulting in the sharing of the spinal cords. The fusion terminates above the sacrum. F...
Rachitic rosary refers to expansion of the anterior rib ends at the costochondral junctions and is most frequently seen in rickets as nodularity at the costochondral junctions.
Other causes of this appearance include:
the costochondral junction is more angula...
Radial head dislocation occurs when the radial head is displaced from its normal articulation with the ulna and the humerus.
The dislocation may be acquired or congenital (see the separate article on congenital radial head dislocation). Additionally, radial head dislocation should be distinguis...
Radial ray anomalies comprise of a large spectrum of upper limb anomalies which range from partial (radial hypoplasia) to a complete (radial aplasia) deficiency of the radius with or without accompanying deficiency of the thumb bones.
They can be associated with a numbe...
The radiocapitellar line is one of the key lines used to assess alignment on the elbow radiograph. It is particularly useful in the paediatric setting.
A line drawn down the neck of the radius should intersect the capitellum. It is important to ensure that you draw the line down the r...
Raghib syndrome is a rare developmental complex. It consists of:
persistence of the left superior vena cava
coronary sinus ostial atresia
atrial septal defect
It has also been associated with other congenital malformations including ventricular septal defects, enlargement of the tricuspid an...
Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications. Many individuals with this disorder are stillborn or die as neonates 4.
RASopathies are a class of developmental disorders caused by germline mutations in genes that encode for components or regulators of the Ras/mitogen activated protein kinase (MAPK) pathway.
As a group, RASopathies represent one of the most common malformation syndromes, with an in...
The rectosigmoid ratio is a measurement of the diameter of the rectum divided by that of the sigmoid colon during contrast enema. It is of particular use in the diagnosis of Hirschsprung disease.
Normal children have a rectum that is larger than the sigmoid (i.e. rectosigmoid ration >1). In fac...
Renal agenesis refers to a congenital absence of one or both kidneys. If bilateral (traditionally known as the classic Potter syndrome) the condition is fatal, whereas if unilateral, patients can have a normal life expectancy.
Unilateral renal agenesis affects approximately 1 in ...
Renal tumours (for the purposes of this article taken to broadly mean neoplastic lesions) should be distinguished from renal pseudotumours.
Whilst renal tumours can be broadly divided into primary and secondary (metastatic), benign and malignant or adult and paediatric tumours, they are more fo...
Respiratory distress syndrome (RDS) is a relatively common condition resulting from insufficient production of surfactant that occurs in preterm neonates.
On imaging, the condition generally presents as bilateral and relatively symmetric diffuse ground glass lungs with low volumes and a bell-s...
Retinoblastomas are the most common intraocular neoplasm found in childhood, and with modern treatment modalities are, in most cases, curable.
On imaging, they are generally characterised by a heterogeneous retinal mass with calcifications, necrotic components, and increased vascularisation on ...
Retinopathy of prematurity (ROP) (formerly referred to as retrolental fibroplasia) is an ocular condition seen in the infant population. It often occurs bilaterally, although usually with significant asymmetry 1.
There is often a history of premature delivery, low birth weight, a...
Rhabdoid tumour of the kidney is a rare, highly aggressive malignancy of early childhood, closely related to atypical teratoid/rhabdoid tumours (AT/RT) of the brain (see rhabdoid tumours)
Rhabdoid tumours occur exclusively in children, with 60% occurring before the age of 1 year o...
Rhabdoid tumours are rare and extremely aggressive tumours of early childhood. They occur in a number of locations:
kidney: see malignant rhabdoid tumour of the kidney, most common
intracranial: see atypical teratoid/rhabdoid tumour (AT/RT)
soft tissues, including:
Rhabdomyosarcoma is a malignant tumour with skeletal muscle cell morphology. It is one of the tumours of muscular origin.
This article focuses on a general discussion of rhabdomyosarcomas. For location specific details, please refer to:
rhabdomyosarcomas of the biliary tract
Rhabdomyosarcomas of the genitourinary tract are uncommon tumours occurring in pelvic organs. It is a disease nearly exclusive to the paediatric population.
For a general discussion of this type of tumour, please refer to the article on rhabdomyosarcomas.
The peak incidence of ...
Rhabdomyosarcomas of the orbit account for approximately 10-20% of all rhabdomyosarcomas and are usually found in children.
As with other locations, rhabdomyosarcomas in the orbit are overrepresented in males, and in Caucasians. They typically occur in children below the age of 1...
Rhabdomyosarcomas of the biliary tract are rare tumours, usually identified in children, with a very poor prognosis. They are usually grouped under botryoid rhabdomyosarcomas.
For a general discussion of this type of tumour, please refer to the article on rhabdomyosarcomas.
Rhabdomyosarcomas of the head and neck represent a large proportion (~40%) of all rhabdomyosarcomas. For a general discussion of this tumour, please refer to rhabdomyosarcoma.
There are usually of the embryonal in cell subtype and are essentially only seen in children. They are classified by lo...
Rhombencephalosynapsis (RS) is a congenital abnormality of the cerebellum characterised by the vermis absence and continuity of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles. It either occurs as an isolated anomaly (rare) or as part of wider cerebral malformation ...
Rickets, less commonly known as rachitis, essentially refers to osteomalacia in the paediatric population that occurs before fusion of the growth plate.
Rickets is seen in a number of distinct populations which include 4:
premature infants (especially if on parenteral nutrition)
Right middle lobe syndrome refers to chronic right middle lobe collapse, without an obstructing lesion, and usually with associated bronchiectasis.
Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lady Windermere syndrome). It ...
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 (RBS) (also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, Appelt-Gerken-Lenz syndrome) is rare congenital malformation syndrome. It has an autosomal recessive inheritance.
intrauterine growth restriction (IUGR)
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...
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 injury at delivery although they are increasingly seen with head trauma.
They can be subdivided by their location within the scalp, particular their location as related to the galea aponeurosis and skull periosteum (this mnemonic is hel...
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-...
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...
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 commonest hip abnormalities in adolescence and is bilateral in ~20% of cases.
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 abnormalities in adolescence and is bilateral in around 20% of cases.
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:
when solitary may be the only one visible of many or the only one imaged
enostosis (bone island)
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...
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 most commonly occurs after vacuum-assisted delivery, but may also be seen following head trauma. In patients with intracranial haemorrhage or skull fractures, the incidence o...
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 2500 to 5000 live births 6,8. The...
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 may be a cause of echogenic renal pyramids in a neonate.
Tamm-Horsfall proteins excreted by the renal tubular epithelium. They are most often encountered on neonatal renal ultrasound, where the concentrated proteins in the renal pyramids may mimic nonobstructing renal sto...
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 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...