18q syndrome is a rare chromosomal anomaly where there is deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as does their severity. Characteristic features include short stature, mental retardation and hypotonia, facial and distal skeletal abnorma...
The 22q11.2 deletion syndrome (also known as the DiGeorge syndrome or velocardiofacial syndrome) is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but recognisable pattern of physical and behavioral features.
The estimated incidence is at ~...
Aase-Smith syndrome is an extremely rare congenital disorder.
congenital hypoplastic anaemia - fetal anaemia
cleft lip, cleft palate
hydrocephalus (due to Dandy-Walker anomaly)
AP supine radiograph for neonates is performed as a mobile examination on the neonatal unit. It can be performed as a standalone projection or as part of a series including a left lateral decubitus x-ray in cases of suspected perforation.
patient is supine, lying on their bac...
Aberrant left pulmonary artery, also known as pulmonary sling, represents an anatomical variant characterised by the left pulmonary artery arising from the right pulmonary artery and passing above the right main bronchus and in between the trachea and oesophagus to reach the left lung. It may le...
An absent septum pellucidum may rarely be an isolated finding, or more commonly be seen in association with a variety of conditions.
The septum pellucidum is partly or entirely absent in 2 or 3 individuals per 100,000 in the general population.
An absent septum pelluc...
An absent thumb can have many associations. They include:
Fanconi anaemia (pancytopenia-dysmelia syndrome)
phocomelia (e.g. thalidomide embryopathy)
Poland syndrome (pectoral muscle aplasia and syndactyly)
The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centres.
The occipital bone has complex development, ossifying from six centres. The foramen magnum is surrounded by four ossification centres. On each side are the exo...
The acetabular angle is a radiographic measurement used when evaluating potential developmental dysplasia of the hip (DDH). It is most useful in patients who have started to ossify the epiphysis since ossification diminishes the usefulness of ultrasound.
The angle is formed by a horizontal lin...
Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.
It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominan...
Achondroplasia is the most common cause of short limb dwarfism. (For a general discussion, see the generic article on achondroplasia.)
As the skull base forms by endochondral ossification whereas the skull vault by membranous ossification there is a marked discrepancy in relative size as the sk...
Acrania anencephaly sequence is the progression from a relatively normal-appearing brain (acrania) to an amorphous brain mass (exencephaly) to no recognizable brain tissue (anencephaly) 1.
The acrania anencephaly sequence begins with acrania, which is the most common anomaly affec...
Acromial apohysiolysis is a finding on shoulder MRI that may be encountered in patients with an unfused acromial apophysis. It is associated with athletes in throwing sports.
Presents with superior shoulder tenderness in a patient <25 years old, often in a young throwi...
Acute necrotizing encephalitis of childhood (ANEC) is a rare type of encephalopathy characterized by multiple bilateral brain lesions, mainly involving the thalami, but also the putamina, internal and external capsules, cerebellar white matter, and the brain stem tegmentum.
There are numerous causes of acyanotic congenital heart disease and can be divided into those that have increased pulmonary vascularity (pulmonary plethora) and those that do not:
increased pulmonary vascularity
ventricular septal defect (VSD)
atrial septal defect (ASD)
The Adams-Oliver syndrome (AOS) is a rare disorder characterised by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects.
polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3
Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic peroxisomal disorder characterised by lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination of the periventricular deep white matter with posterior-predominant pattern and early in...
Human alpha fetoprotein (AFP) elevation may occur in a vast number of conditions:
liver tumours (hepatocellular carcinoma, hepatoblastoma)
<10 ng/ml is within normal limits
>20 ng/ml is above normal limits but has low specificity for tumor since it may occur in a setting of diffuse live...
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases).
The typical presentation in infancy is with a triad of:
infantile spasms: salaa...
Acquired immuno deficiency syndrome (AIDS) embryopathy is characterised by a group of dysmorphic features, which manifests either before or after birth in offsprings of women who are infected by HIV virus. The diagnosis however is in disfavour according to some authors 2.
Airway foreign bodies in children are potentially fatal and proper recognition is important because delayed diagnosis is common.
Children under the age of four years are at increased risk of foreign body (FB) aspiration with a slight male predominance 1.
Alagille syndrome (AGS) is a congenital genetic multi-system disorder.
Infants typically present with symptoms relating to the liver where is it one of the most common causes of hereditary cholestasis.
AGS is inherited in an autosomal fashion with a mutation of...
Alexander disease (AD), also known as fibrinoid leukodystrophy, is a rare fatal leukodystrophy, which usually becomes clinically evident in the infantile period, although neonatal, juvenile and even adult variants are recognised. As with many other diseases with variable age of presentation, the...
Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both semilobar holoprosencephaly and lobar holoprosencephaly having less severe clinical manifestations.
For a general discussion of epidemiology, clinical presentation...
The alpha angle is a measurement used in ultrasonographic assessment of developmental dysplasia of the hip (DDH).
The angle is formed by the acetabular roof to the vertical cortex of the ilium. This is a similar measurement to the acetabular angle.
The normal value is greater than or equal to ...
Alternating radiolucent and radiodense metaphyseal lines can be seen with a number of conditions and the differential diagnosis is wide:
growth arrest lines
rickets: especially those on prolonged treatment, e.g. vitamin D dependent rickets
Anal atresia (or imperforate anus) refers to a spectrum of anorectal abnormalities ranging from a membranous separation to complete absence of the anus.
The estimated incidence is 1 in 5000 births.
Clinically there is no anal opening. It can be broadly be classified in...
Aneurysmal bone cysts (ABC) are benign expansile tumour-like bone lesions of uncertain aetiology, composed of numerous blood filled channels, and mostly diagnosed in children and adolescents.
Aneurysmal bone cysts are primarily seen in children and adolescents, with 80% occurring ...
Anomalous left coronary artery from the pulmonary artery (ALCAPA), also known as Bland-White-Garland syndrome (BWG), is a rare congenital coronary artery anomaly and is considered one of the most serious of such anomalies.
There are two forms based on onset of disease each of which has differen...
Anoxic brain injury, also known as global hypoxic-ischaemic injury, is seen in all age groups (from antenatal to the elderly) as a result of numerous aetiologies. The pattern of injury depends on a number of factors including:
age of the patient (brain maturity)
neonatal hypoxic-ischaemic ence...
The anteater nose sign refers to an anterior tubular prolongation of the superior calcaneus which approaches or overlaps the navicular on a lateral radiograph of the foot. This fancifully resembles the nose of an anteater and is an indication of calcaneonavicular coalition 1-2.
History and ety...
The anterior humeral line is key to demonstrating normal elbow alignment and should be used whenever reading a paediatric elbow radiograph to exclude a subtle supracondylar fracture.
A line drawn down the anterior surface of the humerus should intersect the midd...
Anterior inferior iliac spine (AIIS) avulsion injuries are one of the six main types of pelvic apophyseal avulsion fractures.
As with many pelvic avulsion injuries, they most often occur in adolescents (mostly between the ages 14-17). There is a slight male predilection and they ...
Anterior vertebral body beaking occurs in a number of conditions and may eminate from the central portion or the lower third of the vertebral body.
Morquio syndrome 1 (middle for Morquio)
Hurler syndrome 2
The antral nipple sign refers to redundant pyloric mucosa protruding into the gastric antrum and is seen in pyloric stenosis.
cervix sign of pyloric stenosis
target sign of pyloric stenosis
shoulder sign of pyloric stenosis
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations.
The estimated incidence is at 1:65-80,000 pregnancies.
Thought to occur from a defect on the fibroblast growth factor receptor...
Apgar score was originally described by Virginia Apgar (American anaesthesiologist, 1909-1974) in 1952.
Helpfully, her surname is also a useful mnemonic for remembering the 5 factors: each is graded as 0, 1 or 2 with a total possible score of 10. The lower the score the worse the prognosis.
Apophyseal avulsion fractures of the pelvis and hip are relatively common among physically active adolescents and young adults.
Pelvic and hip apophyseal injuries typically occur in the 14 to 25 year age range. Kicking sports, such as soccer, and gymnastics are frequently to blame...
The apophysis of the proximal 5th metatarsal lies laterally and is oriented longitudinally parallel to the shaft.
It should not be confused with an os peroneum or an avulsion fracture. A fracture at this location is typically oriented transversally as compared to the lon...
Apple-peel intestinal atresia, also known as type IIIb or Christmas tree intestinal atresia, is a rare form of small bowel atresia in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply in a spiral resembling an apple peel. Oft...
The arterial switch procedure (or Jatene switch) is an intervention designed to correct D-transposition of the great arteries at the level of the aorta and main pulmonary artery.
First, the left and right coronary arteries are transferred to the posterior artery (the main pulmonary artery, now ...
The original description of the Askin tumour (by Askin and Rosai in 1979 1), and many studies following it have led to a great deal of confusion. Until recently it has been considered a separate entity or as a type of peripheral primitive neuroectodermal tumour, usually of the chest wall.
Asplenia refers to absence of the spleen thereby leading to deficient splenic function.
Seen in 3% of neonates with structural heart disease and in 30% of patients who die from cardiac malposition. The male-to-female ratio is 2:1.
Asplenia can be classified into two t...
Asplenia syndrome (also known as right isomerism or Ivemark syndrome) is a type of heterotaxy syndrome.
There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates.4
In contrast to polysplenia syndrome, most patients die bef...
Atelosteogenesis (AO) refers to a group of lethal skeletal dysplasias.
atelosteogenesis type I
atelosteogenesis type II
atelosteogenesis type III 4
Atrioventricular septal defects (AVSDs), also known as atrioventricular canal defects or endocardial cushion defects, comprise of a relatively wide range of defects involving the atrial septum, ventricular septum and one or both of the tricuspid or mitral valve. They can represent 2-7% of congen...
Atypical callosal dysgenesis is a term used to denote an unusual pattern of dysgenesis of the corpus callosum.
The development of the corpus callosum occurs between the 12th and 16-20th weeks of gestation 2-3. It begins with the genu and then continues posteriorly along the body to the splenium...
Atypical teratoid/rhabdoid tumours (AT/RTs) are an uncommon WHO Grade IV tumour, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass.
AT/RTs were until relatively recently classed as medulloblastomas, al...
Infantile autosomal recessive osteopetrosis is a subtype of osteopetrosis, a bone disease of dysfunctional osteoclasts that results in the overgrowth of bone. It is a more severe form that tends to present earlier. Hence, it is referred to as "infantile" and "malignant" compa...
Autosomal recessive polycystic kidney disease (ARPKD) is one of many paediatric cystic renal diseases.
ARPKD is one of the commonest inheritable infantile cystic renal diseases, but is far less common than autosomal dominant polycystic disease (ADPKD), which affects adults. The in...
Band heterotopia, also known as double cortex syndrome, is a form of diffuse grey matter heterotopia affecting almost only women. Refractory epilepsy is present in nearly all affected patients, with partial complex and atypical absence epilepsy being the most common syndromes.
On imaging, this ...
Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.
It is characterised by:
fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- le...
Bartter syndrome is a rare inherited renal disorder.
Bartter syndrome is characterised by hyperplasia of the juxtaglomerular cells along with:
hypotension or normotension
elevated plasma renin
Baumann angle, also known as the humeral-capitellar angle, is used for the evaluation of the displacement of paediatric supracondylar humeral fractures. It is measured on a frontal radiograph, with elbow in extension.
This angle is formed by the humeral axis and a straight line through the ep...
Beals syndrome is a rare connective tissue disorder that has some resemblance to the Marfan syndrome. Affected individuals have arachnodactily, contractures and ear anomalies but without any ocular or cardiac anomalies.
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterised by a unique set features that can consist of:
macroglossia: most common clinical finding 4
otic dysplasia ref
localised gigantism / macrosomia
Benign enlargement of the subarachnoid spaces in infancy (BESS or BESSI) also known as benign external hydrocephalus (BEH), is as the name implies, a benign enlargement of subarachnoid spaces seen in infancy. It usually involves the frontal lobe subarachnoid spaces, and it is characterised clini...
Paediatric benign liver tumours are a relatively rare, but important group of conditions. Importantly, the commonest cause of a benign liver tumour is specific to the paediatric population. The list in descending order of frequency is:
mesenchymal hamartoma of t...
Bent bone dysplasias are a class of dysplasia included in a 2010 classification of genetic skeletal disorders 1.
kyphomelic dysplasias, a diverse class, including
congenital bowing of the long bones
cartilage-hair hypoplasia (CHH; metaphyseal d...
Bernese osteotomy, also known also Ganz osteotomy, is an orthopaedic procedure involving osteotomy surrounding the acetabulum and subsequent angulation to improve coverage of the femoral head by the acetabulum. It is performed in the context of hip dysplasia. There is an osteotomy through the su...
The beta angle is a measurement used in ultrasonographic assessment of developmental dysplasia of hip (DDH).
It is defined as the angle formed between the vertical cortex of the ilium and the triangular labral fibrocartilage (echogenic triangle). There is a great deal of variability in the beta...
Biliary atresia (BA) is a congenital biliary disorder, which is characterised by an absence or severe deficiency of the extrahepatic biliary tree. It is one of the most common causes of neonatal cholestasis, often causing cirrhosis immediately and leading to death and accounts for over half of c...
Birth defects linked to antithyroid drug treatment in pregnancy have for a long time been known to exist. A recent Danish register-based cohort study has assessed the degree of association of antithyroid drugs, such as methimazole (MMI) / carbimazole (CMZ) and propylthiouracil (PTU), and the spe...
Birth fractures of the clavicle occur in 0.5-1% of vaginal deliveries and are the most frequent birth-related fracture. They are most commonly seen following normal, uncomplicated births but there is recognised increased incidence with high birth weight babies, forceps delivery and shoulder dyst...
Birth trauma relates to those conditions caused by both physical/mechanical and hypoxic injuries.
Birth trauma occurs in ~5 per 1000 births 2.
There are a wide range of conditions related to birth trauma, ranging from superficial and minor injuries through t...
Blalock-Taussig shunt, also known as Blalock-Thomas-Taussig shunt, is a palliative procedure performed in patients with tetralogy of Fallot (prior to the ability to repair the defect) to increase the pulmonary blood flow.
Originally the shunt sacrificed the subclavian artery (with a distal lig...
Blepharophimosis is dysplasia of the eyelids, where there is horizontal shortening of palpebral fissure. It is often associated with ptosis.
Blepharophimosis is a feature of Dubowitz syndrome and Smith Lemli Opitz syndrome.
Blepharophimosis, ptosis, and epicanthus inversus syndrome form a synd...
Block vertebra is a type of vertebral anomaly where there is a failure of separation of two or more adjacent vertebral bodies.
In a block vertebra, there is partial or complete fusion of adjacent vertebral bodies.
there is a frequent association with hemivertebrae/abse...
Blount disease refers to a local disturbance of growth of the medial proximal tibial epiphysis that results in tibia vara. The condition is commonly bilateral.
There is no recognised inheritance pattern.
Clinically, the child often presents with leg bowin...
Blueberry muffin syndrome refers to patients with multiple cutaneous metastatic lesions from primary adrenal neuroblastoma.
A Bochdalek hernia is a form of congenital diaphragmatic hernia. They occur posteriorly and are due to a defect in the posterior attachment of the diaphragm when there is a failure of pleuroperitoneal membrane closure in utero. Retroperitoneal structures may prolapse through the defect, e.g. ret...
A helpful mnemonic for remembering the features of a Bochdalek hernias is:
B: back and medial, usually on the left side
B: bad (associated with pulmonary hypoplasia)
Bone within a bone is a descriptive term applied to bones that appear to have another bone within them. There are numerous causes including:
thoracic and lumbar vertebrae (in infants)
growth recovery lines (after infancy)
sickle cell disease / thalassaemia
autosomal dominant osteopet...
A 'boot-shaped' heart ("cœur en sabot" in French) is the description given to the appearance of the heart on plain film in some cases of Tetralogy of Fallot. It describes the appearances of an upturned cardiac apex due to right ventricular hypertrophy and a concave pulmonary arterial s...
A botryoid rhabdomyosarcoma is a type of embryonal rhabdomyosarcoma and accounts for 5-10% of all rhabdomyosarcomas 6.
It tends to occur in paediatric population, often between birth and 15 years of age 7.
Rhabdomyosarcomas generally have a nonspecific infiltrative ap...
Bowing fractures are incomplete fractures of tubular long bones in paediatric patients (especially the radius and ulna), often require no intervention and heal with remodelling.
Bowing fractures are almost exclusively found in children. However, there have been several case report...
Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group it most commonly involves the middle phalanx 2.
Single or multiple bo...
The bracket sign refers to a radiographic appearance seen with the tubulonodular variety of pericallosal lipoma. It reflects calcification seen at the periphery of the midline lipoma. It is best seen on coronal imaging, and historically was identified on frontal radiographs.
Common brain tumours in infancy (i.e. under one year of age) are quite different from those of brain tumours in adulthood:
intracranial teratoma (germ cell tumour)
primitive neuroectodermal tumour (CNS-PNET)
medulloblastoma (SHH and Group 3)
choroid plexus papilloma
Brainstem gliomas consist of a heterogenous group which vary greatly in histology and prognosis.
It should be noted that if not otherwise specified the term brainstem glioma usually refers to the most common histology, the diffuse brainstem glioma.
Brainstem gliomas ...
Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterised by:
can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment
branchial fistulae and branchial cleft cysts
Brodie abscess is an intraosseous abscess related to focus of subacute pyogenic osteomyelitis. Unfortunately, there is no reliable way radiographically to exclude a focus of osteomyelitis. It has a protean radiographic appearance and can occur at any location and in a patient of any age. It migh...
Bronchial atresia (BA) is a developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus.
Its exact cause is not well known. Focal bronchial interruption appears to occur before birth. As the bronchial pattern is entirely normal distal to the site ...
Bronchogenic cysts are congenital malformations of the bronchial tree (type of bronchopulmonary foregut malformation). They can present as a mediastinal mass that may enlarge and cause local compression. It is also considered the commonest of foregut duplication cysts.
Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop several weeks later in infants on prolonged ventilation.
BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premat...
Bronchopulmonary foregut malformation (BPFM) is a term that encompases:
congenital pulmonary airways malformation (CPAM)
foregut duplication cysts
They result from anomalous budding of the ...
Bucket handle fracture may refer to:
bucket handle fracture - non-accidental injury
bucket handle fracture of the pelvis
Burkitt lymphoma (BL) is an aggressive B-cell lymphoma that predominantly affects children.
Burkitt lymphoma is the most common (40%) type of non-Hodgkin lymphoma in childhood. The median age of Burkitt lymphoma is 8 years and it has a male predominance (M:F = 4:1) 1. It is less c...
Butterfly vertebra is a type of vertebral anomaly that results from the failure of fusion of the lateral halves of the vertebral body because of persistent notochordal tissue between them.
an anterior spina bifida, with or without an anterior meninogocoele
can be part ...
Café au lait spots are a type of pigmented skin lesions which are classically described as being light brown in colour.
Conditions associated with them include:
neurofibromatosis type 1 (NF1)
McCune-Albright syndrome: typically irregular which has been likened to ...
Caffey disease or infantile cortical hyperostosis a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability.
A rare variant known as prenatal onset cortical hyperostosis, is also reported and it is severe and fatal.
Children usually ...
Calvarial thinning can result from a number of causes. They include:
craniofacial syndromes 1
focal calvarial thinning
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease