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Fucosidosis

Fucosidosis is a rare inherited autosomal recessive lysosomal storage disorder, hypomyelinating disorder, and mucopolysaccharidosis-like disorder, characterized by multiorgan accumulation of fucose-containing products. Epidemiology It is considered very rare, with approximately only 100 cases ...

Doughnut sign (disambiguation)

The doughnut sign can refer to various imaging appearances: crescent in a doughnut sign (bowel) doughnut sign (bone scan) doughnut sign (bowel) doughnut sign (chest) doughnut sign (missed testicular torsion) doughnut sign (orbit)

Celery stalk (disambiguation)

Celery stalk appearance can refer to the following: celery stalk anterior cruciate ligament celery stalk metaphysis

Trident appearance (disambiguation)

The trident appearance (or sign) can refer to a variety of entities: trident acetabulum trident hand trident sign (osmotic demyelination) trident sign (persistent trigeminal artery) History and etymology The trident is a three-pronged lance employed for spearing fish, and in Classical myth...

Peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency, also known as pseudo-neonatal adrenoleukodystrophy or just pseudoadrenoleukodystrophy, is a very rare autosomal recessive inborn error of metabolism due to deficiency of the enzyme Acyl-Coa oxidase (encoded by ACOX1 gene, 17q25.1) that results in the accu...

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare neurodegenerative hypomyelinating disease of infancy and childhood. Epidemiology Due to the small number of reported cases, detailed epidemiological data is unavailable. The age of onset is usually within the f...

Alpers syndrome

Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1. Epidemiology Alpers syndrome is incredibl...

Pelvis radiograph (pediatric)

The radiography of the pelvis in the pediatric patient varies greatly from the adult examination; particularly as specialized techniques are often required to immobilize the patient. To avoid future mobility and pain complications, it is essential to treat fractures and correct developmental pat...

Pseudo-TORCH syndrome

Pseudo-TORCH syndrome is a term used to denote cases that clinically resemble congenital infection (see congenital TORCH infections) but where no organisms or serological, microbiological or immunological evidence of infection can be identified 1. It is now believed that pseudo-TORCH syndrome is...

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...

Neuroacanthocytosis syndromes

Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterized by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein. There are four core NAS: chorea-acanthocytosis (ChAc) McLeod syndrome (MLS) Huntington disease-like ...

Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly. Epidemiology Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...

Sjögren-Larsson syndrome

Sjögren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous syndrome and leukodystrophy characterized by the clinical triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Epidemiology Although considered very rare, the exact prevalence is not k...

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A. The syndrome's key characteristics are: phal...

Condyle-C1 interval (CCI)

The condyle-C1 interval (CCI) is the measurement of the interval between condyle and C1 at four equidistant points on the joint surface in sagittal and coronal reconstructions of computed tomography. The CCI is reported to have a high lateral symmetry in children 1. Used with a cut-off of 4 mm,...

Typhoid fever

Typhoid fever or just typhoid is an infectious disease caused by the Salmonella enterica serovar Typhi bacterium, usually spread by the orofecal route. The condition is characterized by severe fever, acute systemic symptoms, with occasionally serious enterocolic complications. Terminology Do n...

Subependymal hamartoma

Subependymal hamartomas are seen in patients with tuberous sclerosis. They are located along the ventricles and are mostly asymptomatic. As with other hamartomas, they grow at the same rate as the surrounding tissues. On imaging, they appear as small intraventricular masses, smaller than 1 cm, ...

Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities. Clinical presentation There is severe intellectual di...

Pediatric cystic nephroma

Pediatric cystic nephromas, previously known as multilocular cystic nephromas, are rare benign renal neoplasms occurring in children. As of the 2016 WHO classification, they are considered distinct from adult cystic nephromas 1,2. Terminology Evolving terminology regarding cystic nephromas and...

Renal cysts and diabetes syndrome

Renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young, type 5 (MODY5), refers to the combination of renal cortical cysts and diabetes mellitus in patients with mutations in the HNF1B gene. When renal cysts are associated with these mutations without disturb...

Abdominal migraine

Abdominal migraine is a syndrome that presents as recurrent episodes of severe paroxysmal abdominal pain, coupled with vasomotor symptoms, nausea, and emesis that lasts for at least 1 hour 3. Historically it has tended to be a pediatric diagnosis, but it is now increasingly seen in adults. It is...

Right-to-left shunt (mnemonic)

A useful mnemonic to remember the differential diagnoses associated with right-to-left cardiovascular shunts is: 1-5 Mnemonic 1: a combination vessel; truncus arteriosus 2: number of arteries involved; transposition of the great arteries 3: "tri-" means 3, the number of leaflets involved; t...

Complications of pulmonary interstitial emphysema (mnemonic)

A useful mnemonic to remember the complications of pulmonary interstitial emphysema is that the most common ones begin with: pneum- Mnemonic pneumatocele pneumothorax pneumomediastinum pneumoperitoneum

Pediatric radiography

Pediatric radiography is a subset within general radiography specializing in the radiographic imaging of the pediatric population. The general principles of radiography remain the same. However, additional consideration needs to be taken into account when determining patient-specific exposure f...

Langenskiold classification of Blount disease

The Langenskiold Classification of Blount disease uses age and severity of deformity as grading parameters. Classification Six stage radiographic classification of infantile tibia vara, which is based on changes observed as the child matured: stage I: 2-3 years irregularity of metaphyseal os...

Hopkins syndrome

Hopkins syndrome is a rare poliomyelitis-like neurological syndrome that occurs following an episode of acute asthma. Clinical presentation It usually manifests as flaccid paralysis of one or more limbs, several days or weeks following an episode of acute asthma. Pathology The pathogenesis i...

Smith-Magenis syndrome

Smith-Magenis Syndrome (SMS) is a rare genetic syndrome which results from an interstitial deletion in chromosome 17p11.2. Terminology The condition is known by several other names which are all similar variants related to its underlying karyotype: 17p deletion syndrome, 17p11.2 monosomy, chro...

Neonatal mastitis

Neonatal mastitis is rare and refers to infection of the breast tissue occurring in a neonate. Clinical presentation Patients may present with unilateral breast erythema and pain sometimes with associated nipple discharge and lymphadenopathy. It usually occurs in patients under five weeks of a...

Multicentric ossification

Multicentric ossification refers to normal, or variant of normal, ossification at more than one site within a single epiphysis or apophysis. It is important to be aware of common sites where multicentric ossification may occur, to avoid confusion with fracture, apophysitis and other entities. t...

Physiologic periostitis

Physiologic periostitis describes the normal presence of smooth bilateral diaphyseal periosteal new bone in the humeri, femora or tibiae of infants aged 1 to 6 months. It can be observed in both preterm and term infants. The etiology is unclear but may simply relate to rapid growth. Radiograp...

Laryngomalacia

Laryngomalacia is the most common cause of noisy breathing in infants where it results in stridor. It is the result of a congenital abnormality of the cartilage in the larynx that results in the dynamic partial supraglottic collapse of the larynx during breathing. Clinical presentation Most c...

Pediatric chest (AP erect view)

The anteroposterior erect chest view is ideal in younger cooperative pediatric patients (approximately 3-7 years old; this age range is only a guide). This chest view examines the lungs, bony thoracic cavity, mediastinum and great vessels. Indications The AP erect view is often chosen over th...

Pediatric chest (PA erect view)

The posteroanterior erect chest view is often performed in older pediatric patients; when the patient is able to cooperate with sitting or standing erect. This chest view examines the lungs, bony thoracic cavity, mediastinum and great vessels. Indications The PA erect view is often chosen over...

Molybdenum cofactor deficiency

Molybdenum cofactor deficiency (MCD or MOCD) is a very rare, lethal, genetic condition caused by a loss of function of molybdenum-dependent enzymes, manifesting as severe and rapid neurological deterioration. On imaging it mimics hypoxic-ischemic encephalopathy. Epidemiology Less than 150 repo...

Pediatric chest (horizontal beam lateral view)

The horizontal beam (cross-table) pediatric lateral chest view is a modified lateral projection often utilized in populations under the age of 6 months old due to the inability of that patient to independently hold up their head. Indications A lateral radiograph helps confirm the presence of a...

Pediatric chest (lateral view)

The pediatric lateral chest view may be performed as an adjunct to a frontal chest radiograph in cases where there is diagnostic uncertainty. Indications The lateral chest view examines the lungs, bony thoracic cavity, mediastinum, and great vessels. Lateral radiographs can be particularly use...

Gillespie syndrome

Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unch...

Pediatric chest (supine view)

In pediatric imaging, the anteroposterior supine chest x-ray is beneficial for imaging unconscious or uncooperative patients. Indications This view is preferred in infant and neonate imaging, whilst AP erect and PA erect views are ideal for children able to cooperate in sitting or standing 1. ...

Neonate chest (supine view)

The supine chest view of the neonatal patient is a common radiographic examination when examining preterm patients 1. Although not overall technically demanding, the radiographer should allocate time to ensure little to no repeats are required. Research surrounding the technical evaluation and ...

Hypermobile lateral meniscus

The hypermobile lateral meniscus (HLM) is one of the causes of lateral knee pain and a locking sensation. In children the cause tends to be due to congenital absence of posterior capsular attachments, whilst in adults it is more likely traumatic. Epidemiology There is a bimodal age distributi...

Kashin-Beck disease

Kashin-Beck disease (KBD) is a rare chronic condition, comprising an osteochondropathy with a concurrent necrosis of the joints. Epidemiology The disease has traditionally been endemic to areas of Tibet, China, North Korea, and Siberian Russia, and is usually diagnosed in pre-teenage children....

Chest radiograph (pediatric)

The chest radiograph is one of the most commonly requested radiographic examinations in the assessment of the pediatric patient. Depending on the patients' age, the difficulty of the examination will vary, often requiring a specialist trained radiographer familiar with a variety of distraction a...

Fetal lung interstitial tumor

Fetal lung interstitial tumor (FLIT) is a recently proposed designation for a rare primary lung mass detected prenatally or when the patient is up to 3 months old. Epidemiology Fetal lung interstitial tumors have a slight predominance in boys 1. Pathology Fetal lung interstitial tumors were ...

Infantile fibrosarcoma of the lung

Infantile fibrosarcoma of the lung, also known as primary bronchopulmonary fibrosarcoma, is a very rare spindle-cell tumor. Epidemiology More than 80% of cases are reported to occur within the 1st year of life. There is a slight predominance in male infants 1,2. Clinical presentation Patient...

Primary lung tumors in children

Pediatric primary lung tumors are rare in children however they must be distinguished from locally aggressive inflammatory conditions and benign disease. 1 Primary lung tumors in the neonates and infants include: pleuropulmonary blastoma (PPB) infantile fibrosarcoma of the lung fetal lung in...

Canal of Nuck hernia

Canal of Nuck hernias are rare and occur in female children. They are caused by a failure of complete obliteration of the canal of Nuck with a connection to the peritoneal cavity and transmitted intra-abdominal contents (e.g. bowel, omentum, fluid, ovary, fallopian tube and/or urinary bladder). ...

Persistent pulmonary hypertension of the newborn

The most common cause of pulmonary hypertension in newborns is persistent pulmonary hypertension of the newborn (PPHN). It occurs in term or late preterms infants, where the fetal shunts persist after birth and fail to close. It falls under group 1.5 of the Dana Point classification system of pu...

Athlete heart syndrome

Athlete heart syndrome refers to adaptations in both cardiac structure and function seen in people engaged in high-performance and endurance physical exercise. Epidemiology The prevalence of the condition has increased due to the increased popularity of recreational exercise, approx 3.6/100,00...

Alpha-fetoprotein

Alpha-fetoprotein (AFP) is an important plasma protein synthesized by the yolk sac and fetal liver. In adults, its main utility is as a tumor marker, primarily for hepatocellular carcinoma or teratoma. Functionally it is the fetal homologue of albumin i.e. it acts as a major carrier protein in t...

Hypovitaminosis E

Hypovitaminosis E is well-recognized but rare. It is usually due to the malabsorption of vitamin E, e.g. cystic fibrosis or pancreatic failure. It manifests as dysfunction of the CNS, characteristically presenting with a tremor and ataxia. Tendon reflexes are often absent. Clinically and radiol...

Cystinosis

Cystinosis, also known as Abderhalden Kaufmann Lignac syndrome, is the most common hereditary cause of renal Fanconi syndrome. Cystinosis is one of the lysosomal storage disorders. Epidemiology It has a reported incidence of 1:192,000 1. Cystinosis is typically diagnosed in infancy. Clinica...

Glycogen storage disease type II

Glycogen storage disease type II, also known as Pompe disease or acid maltase deficiency disease, is an inherited lysosomal storage disorder characterized by abnormal glycogen accumulation within lysosomes. It is a multisystem disorder involving the heart, skeletal muscle and liver. It is caused...

Cerebellar hypoplasia

Cerebellar hypoplasia is a type of congenital morphological cerebellar abnormality in which the cerebellum has reduced volume, but a normal shape, and is stable over time 1,4. The pattern of volume loss may be regional (affecting only part of the cerebellum) or global. Terminology Global cere...

Lateral center-edge angle

The lateral center-edge angle is a radiographic measurement of the superolateral femoral head bony coverage by the acetabulum. It has since been shown to be superior to the extrusion index in measuring femoral head undercoverage ref. Usage The lateral center-edge angle has primarily been desc...

Filar cyst

A filar cyst is an incidental finding on neonatal lumbar sonography located in the filum terminale of the spinal cord. It is considered a normal variant and is often confused for a ventriculus terminalis, a smooth dilated cavity of the central canal, located within the conus medullaris. The inc...

Extrusion index

The extrusion index is a radiographic measurement of femoral head bony coverage by the acetabulum. It is useful in assessing for developmental dysplasia of the hip as well as femoroacetabular impingement. Measurement It is calculated by dividing the horizontal distance of the lateral femoral h...

Tubulinopathy

Tubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development. Clinical presentation Some series report a high prevalence of seizures during infancy which may the init...

Hermaphroditism

Hermaphroditism states are a result of abnormalities in embryonic development and may have mixed characteristics of each sex, with variable clinical manifestations. True hermaphroditism is deﬁned as the simultaneous presence in a single individual of both testicular and ovarian tissues, that may...

Triradiate cartilage

The triradiate cartilage is the Y- shaped epiphyseal plate that occurs at the junction where the ischium, ilium, and pubis meet in the skeletally immature skeleton. The vertical component of the "Y" is the meeting of the ischium and pubic bone. The anterior arm is the junction of the ilium an...

Umbilical vein

The umbilical vein is the conduit for blood returning from the placenta to the fetus until it involutes soon after birth. The umbilical vein arises from multiple tributaries within the placenta and enters the umbilical cord, along with the (usually) paired umbilical arteries. Once it enters the...

Pseudosinus tract

A pseudosinus tract is a normal fibrous cord extending from the coccyx to an overlying sacral dimple. These have no associated mass and contain no fluid (if CSF drainage is occurring via the sacral dimple, then a true dorsal dermal sinus should be considered). Diagnosis Ultrasound Hypoechoic ...

Sphenoidal fontanelles

The sphenoidal or anterolateral fontanelles are paired bilateral soft membranous gaps (fontanelles) at the junction of the coronal, sphenofrontal, sphenoparietal, sphenosquamosal, and squamosal sutures. Each sphenoidal fontanelle persists until approximately six months after birth, after which i...

Replogle tube

A Replogle tube is a medical device used in the treatment of babies with esophageal atresia. The tube is double-lumen and is inserted through the nostril and into the blind-ending esophageal pouch where it is then used to drain the pooled saliva. This prevents the secretions overflowing into the...

Diastasis recti

Diastasis recti (rectus diastasis) or divarication of the recti is a stretching of the linea alba with abnormal widening of the gap between the two medial sides of the rectus abdominis muscle (increased inter-recti distance). The degree of widening needed for the diagnosis is controversial, wit...

Labeled imaging anatomy cases

This article lists a series of labeled imaging anatomy cases by body region and modality. Brain CT head: non-contrast axial CT head: non-contrast coronal CT head: non-contrast sagittal CT head: non-contrast axial with clinical questions CT head: angiogram axial CT head: angiogram coronal ...

Posterior fontanelle

The posterior fontanelle or occipital fontanelle is the triangular soft membranous gap (fontanelle) at the junction of the lambdoid and sagittal sutures. It persists until approximately 2-3 months after birth, after which it is known as the lambda. It can be used as an additional sonographic win...

Mastoid fontanelle

The mastoid or posterolateral fontanelles are paired bilateral soft membranous gaps (fontanelles) at the junction of the parietomastoid, occipitomastoid, and lambdoid sutures. Each mastoid fontanelle persists until the second year of life, after which it is known as the asterion. It can be used ...

Anterior fontanelle

The anterior or frontal fontanelle is the diamond-shaped soft membranous gap (fontanelle) at the junction of the coronal and sagittal sutures. It persists until approximately 18-24 months after birth, after which it is known as the bregma. The precise timing of the anterior fontanelle closure is...

Hypoplastic right heart syndrome

Hypoplastic right heart syndrome is a congenital cardiac anomaly. It is characterized by an underdeveloped right side of the heart, including the right ventricle, tricuspid valve, pulmonary valve, and pulmonary arteries. Epidemiology It may be present in around 1.1% of stillbirths and is rarer...

Congenital goiter

Congenital goiter is a rare cause of neck swelling in neonates and is demonstrated as diffuse/nodular thyroid gland enlargement. Epidemiology It is a common endocrine disease in newborns and affects approximately 1:2000-4000 live births. Clinical presentation There may be a difficult vaginal...

Cervical thymus

The cervical thymus (plural: cervical thymi) refers to an ectopic location of the thymus in the neck above the level of the brachiocephalic veins. Clinical presentation A cervical thymus usually presents before adolescence as a painless unilateral midline or lateral neck mass. Pathology Etio...

Cervical adenitis

Cervical adenitis refers to the inflammation of lymph nodes in the neck. Epidemiology Most common cause of a pediatric neck mass following non-specific infectious/inflammatory insults. Clinical presentation In the pediatric population, a child will present with a painful cervical mass. Path...

Bilateral thalamic glioma

Bilateral thalamic gliomas are rare but characteristic low-grade astrocytomas that occur in both children and young adults. Clinical presentation Presentation may vary with age. Young children with bilateral thalamic glioma often have signs of increased intracranial pressure and movement disor...

Pleurisy

Pleurisy (or pleuritis) refers to the disease entity characterized by inflammation of the pleura. It classically presents as pleuritic pain. Terminology Pleurisy is often used by medical professionals and laypeople both to refer to the inflammation of the pleura and also the symptoms. Strictl...

Double lung point sign (Ultrasound)

The double lung point sign refers to a sharp boundary found between relatively aerated superior lung fields and coalescent "B‐lines" (representing interstitial edema) in the basal lung fields, with a reported sensitivity of 45.6%-76.7% and a specificity of 94.8%-100% 1,3 in diagnosing transient ...

Propionic acidemia

Propionic acidemia is a rare organic acidemia caused by a deficiency in the enzyme propionyl coenzyme A carboxylase. Epidemiology Propionic acidemia has an incidence of around 1 in 150,000 in the general population 1. Clinical presentation Around 80% of children with propionic acidemia wi...

Hand-foot syndrome (sickle cell disease)

Hand-foot syndrome, also simply referred to as dactylitis, is a self-limiting manifestation of a vaso-occlusive crisis in individuals with sickle cell anemia. Terminology Dactylitis is not a specific finding in sickle cell disease, therefore cautious usage is advised if one chooses to employ i...

Hand-foot syndrome (chemotherapy)

Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterized by a widespread erythema, edema and ulceration of the hands and feet. Causative drugs Many chemotherapeutic...

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a form of muscular dystrophy characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Epidemiology It is considered one of the more common hereditary muscular disorders with a prevalence of ~1 in 8,000. ...

Measles

Measles (also known as rubeola) is a highly contagious infection caused by the measles virus. Epidemiology The measles vaccine, first introduced in 1963, has significantly reduced the incidences of measles. However, it remains endemic in countries with low vaccination rates 1. Worldwide, it is...

Pertussis

Pertussis, also known as whooping cough is a highly contagious, acute respiratory illness that is caused by the gram-negative bacterium Bordetella pertussis. Epidemiology The incidence of pertussis in children has dramatically decreased since the introduction of pertussis vaccination. However,...

Ureteric jet

Ureteric jets, also known as ureteral jets, are the visualization of the normal physiological periodic efflux of urine from the distal end of each ureter into the bladder. Pathology When the urine passing down the ureter reaches the vesicoureteric junction (VUJ), it is forced out into the bla...

Multicentric carpal tarsal osteolysis

Multicentric carpal tarsal osteolysis is a rare skeletal disorder which is characterized by progressive osteolysis of the carpal, metacarpal and tarsal bones. It usually presents in early childhood with progressive pain and stiffness of the wrist, feet and elbow, clinically mimicking juvenile rh...

Danon disease

Danon disease is an X-linked dominant cause of debilitating cardioskeletal myopathy and is a lysosomal storage disorder. Epidemiology Although considered rare, the exact incidence is unknown 1. Clinical presentation Danon disease is characterized by the triad of 1-4: cardiomyopathy the mos...

Antley-Bixler syndrome

Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common. Epidemiology It is a very rare condition with only 50 cas...

Pediatric hip (abduction-internal rotation view)

The abduction-internal rotation view (AIR view) also known as the Von Rosen view is a radiographic projection of the hip that demonstrates the relationship between the femoral head and the acetabulum. Indications The von Rosen view is used in the diagnosis of developmental dysplasia of the hi...

Hiccups

Hiccups (or hiccoughs), medical term singultus (rare plural: singultūs), are an unpleasant phenomenon, experienced by everyone on occasion, and usually self-limiting. However the much rarer intractable chronic form can be extremely debilitating. Epidemiology Hiccups are a symptom that has prob...

Aorto-ventricular tunnel

Aorto-ventricular tunnel (AVT) is an extremely rare form of congenital heart disease, representing an anomalous extracardiac communication between the ascending aorta and the left or right ventricles. Terminology In most cases the anomalous communication is between the aorta and the left ventr...

Chronic suppurative lung disease

Chronic suppurative lung disease (CSLD) refers to a group of conditions which includes: cystic fibrosis bronchiectasis primary ciliary dyskinesia This term is usually used in the context of pediatric patients.

Body imaging

Body imaging is the term assigned to cross-sectional imaging of the body, which radiologically refers to the chest, abdomen and pelvis. It is often used by radiologists who report this region (sometimes known as body imagers/radiologists) to differentiate their primary area of interest from othe...

Preauricular sinus

Preauricular sinuses (also known as preauricular pits or preauricular cysts) are common congenital abnormalities that are typically small blind-ended openings near the ascending limb of the helix. These can be a simple pit or have a sinus tract and/or cystic component. Epidemiology They are mo...

Femoral facial syndrome

Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1. Clinical presentation Femoral facial syndrome can cause varying degrees of femoral malformation rang...

Homocystinuria

Homocystinuria is a rare congenital disorder of metabolism. Clinical presentation The disease may affect one or more of the systems below 1,2: eye: ectopia lentis (typically downwards and inwards) CNS: seizures, dystonia, developmental delay skeletal: scoliosis, pectus excavatum, long limb...

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