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Thumb hypoplasia

Thumb hypoplasia is a type of congenital hand abnormality and may be seen in isolation or with other congenital abnormalities (including other hand abnormalities, radial ray deficiency or other syndromes, e.g. Holt-Oram and Fanconi syndrome). Classification There are several types of thumb abn...

Paediatric femur (lateral view)

The lateral femur view for paediatrics is part of a standard series examining the femur in its entirety, including the hip and knee joint. Indications This view demonstrates the femur in an orthogonal position to the AP view. This allows assessment of suspected dislocations, fractures, localis...

Paediatric femur (AP view)

The anteroposterior femur view for paediatrics is part of a standard series examining the femur in its entirety, including the hip and knee joints. Indications This view demonstrates the paediatric femur in its natural anatomical position allowing for assessment of suspected dislocations, frac...

Femur series (paediatric)

The femur series for paediatrics is comprised of an anteroposterior (AP), and lateral radiograph. The series is utilised to assess for abnormalities pertaining to the shaft of the femur (often requested when fringe abnormality is seen on hip or knee radiographs). It is not an effective series to...

Paediatric knee (AP view)

The anteroposterior knee view for paediatrics is one of two views in order to examine the knee joint, patella, distal femur and proximal tibia and fibula. Depending on the child's age and the departmental protocol, additional views such as the skyline and intercondyler views may also be performe...

Botulism

Botulism is a neuroparalytic syndrome manifesting as diffuse generalised flaccid paralysis caused by exposure to botulinum neurotoxin. It can be potentially fatal. Botulinum toxin is the deadliest toxin due to high lethality and potency. The lethal dose (LD 50) is 1-3 ng of toxin per 1 kg of bo...

Alice in Wonderland syndrome

Alice in Wonderland syndrome, also known as Todd syndrome, is a rare condition affecting the sensory inputs in the brain. Epidemiology Alice in Wonderland syndrome most common in children with over two-third of cases occurring in the paediatric demographic 1. Clinical presentation Alice in W...

12q14 microdeletion syndrome

12q14 microdeletion syndrome or osteopoikilosis-short stature-intellectual disability syndrome is caused by heterozygous deletion at the region of 12q14. The microdeletion affects the LEMD3 gene which has already been implicated in osteopoikilosis. Epidemiology Prevalence is <1 in 1 million li...

Acrodysotosis

Acrodysotosis, also known as Arkless-Graham syndrome, Maroteaux-Malamut syndrome or acrodysplasia, is a rare genetic disorder affecting bone growth. Epidemiology The true incidence is not known. There is no known gender predilection. The condition is often detected in early childhood. Clinica...

Subaponeurotic fluid collection

Subaponeurotic fluid collections are a rare cause of head swelling in young neonates. They are thought to be due to birth trauma from assisted delivery, e.g. prolonged assisted delivery or ventouse delivery, with associated microfistula development that leads to CSF leakage. Clinical presentati...

Somite

Somites, also known as metameres, are paired populations of cells that arise on either side of the neural tube in the developing embryo and set out a plan for the compartmentalised development of the body 1-3. Immature somites are multipotent and can differentiate into many tissues including de...

Lederer-Brill disease

Lederer-Brill disease is an autoimmune haemolytic anaemia with very variable clinical features 1. Clinical presentation It usually occurs in children with a recent history of infection. Symptoms and signs include 1: massive haemolysis resulting in anaemia, jaundice, and haemoglobinuria feve...

Knee series (paediatric)

The knee series for paediatrics consists of an anteroposterior and a lateral projection. Indications trauma with a suspected fracture inability to weight-bear suspected foreign body or bony lesions Projections anteroposterior view lateral view Gonadal shielding The ...

Nezelof syndrome

Nezelof syndrome is a hereditary primary immunodeficiency state caused by thymic dysplasia, lack of T cell function and normal levels of immunoglobulins. Epidemiology Nezelof syndrome is extremely rare. Clinical presentation Common clinical features include 4,5 failure to thrive metaphysea...

Microgastria

Microgastria is a rare congenital condition involving an abnormally small stomach. It is typically associated with other congenital conditions such as asplenia, congenital heart disease, skeletal anomalies or tracheoesophageal anomalies. Epidemiology Microgastria is an extremely rare anomaly, ...

Gastro-oesophageal reflux grading

Gastro-oesophagal reflux grading is based on the vertical height that contrast-media reaches during fluoroscopy 1: grade I: reflux in the distal oesophagus grade II: reflux up to or just above the carina grade III: reflux into cervical oesophagus grade IV: reflux in the cervical oesophagus w...

Normal variant of femoral condyle ossification

Normal variant of femoral condyle ossifications occurs due to variability of endochondral ossification of articular cartilage and can be easily confused with osteochondritis dissecans. Epidemiology more often in boys (mean age of ~8 years) than in girls 1 often bilateral 1,2 typically locat...

Tibia fibula series (paediatric)

The tibia fibula series for paediatrics consists of an anteroposterior and a lateral projection. Indications trauma with a suspected fracture inability to weight-bear suspected foreign body or bony lesions Projections anteroposterior view lateral view Gonadal shield...

Bridging vein thrombosis

Bridging vein thrombosis describes thrombosis of the fragile bridging veins that cross the subarachnoid and subdural spaces. The presence of bridging vein thrombosis on imaging has a strong association with non-accidental injury and can hint towards a traumatic aetiology behind subdural haematom...

Neonatal bowel obstruction

Neonatal bowel obstruction is the most common neonatal abdominal surgical emergency1. It is generally divided into high and low obstruction, according to the level of the transition point, since imaging appearances, underlying pathology, treatment, and prognosis differ. They are divided into: ...

Paediatric tibia fibula (lateral view)

The paediatric tibia fibula lateral view is part of a two-view series of the entire tibia, fibula, and both the knee and ankle joint. Indications The tibia fibula lateral view is performed for evaluation of the lower leg in paediatric patients. It allows for assessment of fractures in trauma ...

Kocher criteria for paediatric septic arthritis of the hip

The Kocher criteria for paediatric septic arthritis of the hip is a risk stratification score to aid in differentiating between septic arthritis and transient synovitis of the hip in the paediatric population. Criteria non-weight-bearing temperature >38.5°C or >101.3°F CRP >2.0 mg/dL or ESR ...

Paediatric tibia fibula (AP view)

The paediatric tibia fibula anteroposterior view is part of a two-view series of the entire tibia, fibula, and both the knee and ankle joint. Indications The tibia fibula AP view is performed for evaluation of the lower leg in paediatric patients. It allows for assessment of fractures in trau...

Paediatric ankle (lateral view)

The lateral ankle view for paediatrics is one of three views to examine the distal tibia, distal fibula, proximal talus and proximal fifth metatarsal. Indications The lateral projection demonstrates the ankle joint orthogonal to the AP ankle view. It is useful in diagnosing fractures, joint s...

Stellate crease

A stellate crease, also known as a stellate lesion, is an indentation in the acetabular roof composed of radiating lines caused by a focal area of hyaline cartilage deficiency, which is in continuity with the acetabular notch 1,2. They are found above the anterosuperior aspect of the acetabulum...

CNS tumour with BCOR internal tandem duplication

CNS tumour with BCOR internal tandem duplication (BCOR-ITD) is a rare and relatively new brain tumour type that has been added to the WHO classification of CNS tumours 5th edition as part of the embryonal family of tumours. Originally identified through molecular analysis of tumours classified a...

Paediatric ankle (mortise view)

The mortise ankle view for paediatrics is one of three views to examine the distal tibia, distal fibula, proximal talus and proximal fifth metatarsal. Depending on the child's age and the departmental protocol, the mortise view may or may not be performed. Terminology Mortise and mortice are v...

Persistent sciatic vein

Persistent sciatic vein is one of two known embryonic veins in the lower limb which may persist, the other being the lateral marginal vein. Although both are associated with Klippel-Trenaunay syndrome 1-3, only the lateral marginal vein is also referred to as the Klippel-Trenaunay vein. The sci...

Epiphyseal cortical irregularity

An epiphyseal cortical irregularity is an anatomical variant featuring a fragmented appearance of the distal femoral epiphysis in children. Epidemiology Epiphyseal cortical irregularity is a rare finding, accounting for 6.7% of all incidental findings on a knee radiograph series 1. It has a h...

Paediatric ankle (AP view)

The anteroposterior ankle view for paediatrics is one of three views in order to examine the distal tibia, distal fibula, proximal talus and proximal fifth metatarsal. Indications This projection demonstrates the ankle joint in its natural anatomical position. It is useful in diagnosing fractu...

Congenital infiltrating lipomatosis of the face

Congenital infiltrating lipomatosis of the face is a very rare congenital, non-hereditary disease manifesting with prominent unilateral facial overgrowth and deformity. Clinical presentation Facial asymmetry is always noted at birth. Other findings on the affected side include: unilateral ...

Ankle series (paediatric)

The ankle series for paediatrics consists of an anteroposterior, mortise and a lateral projection. Depending on the child's age and the departmental protocol, the mortise view may or may not be performed. Indications trauma with a suspected fracture suspected dislocation inability t...

Von Laer classification of paediatric supracondylar humerus fractures

The Von Laer classification, also known as the Laer classification, is used to grade the severity and the need for further diagnostic evaluation and surgical correction of paediatric supracondylar humerus fractures, based on their clinical and radiological presentation. Classification Von Laer...

Median raphe cyst

Median raphe cysts are one of the rarest causes of congenital cysts in the paediatric age group. These cysts are usually solitary and hypoechoic. They may develop in the perineum in any location, including the penile shaft and scrotum. Cysts are generally 2 cm in size on imaging or less than tha...

Cooks syndrome

Cooks syndrome is a rare autosomal dominant genetic disorder. It is characterised by bilateral absence of distal phalanges in hand and feet, absence of nails, digitalization of thumb and little finger brachydactyly 1,2. There was no skeletal abnormality noted in these patients. Only around 20 c...

Nasal dermoid cyst

Nasal dermoids (or nasal dermoid sinus cysts) are the most common congenital midline nasal lesion typically presenting in early childhood. Epidemiology Nasal dermoids are rare and account for only 4-12% of all dermoid cysts of the head and neck, far less common than angular dermoids 1,2. They ...

Distal humerus physeal separation

Distal humerus physeal separation is seen in children under 3 years and is often associated with non-accidental injury 1. Clinical presentation The child will usually present with a reduced range of motion with swelling and ecchymosis around the joint 2. Pathology The injury can occur durin...

Cri du chat syndrome

Cri du chat syndrome is a rare congenital disorder caused by the deletion of the short arm of chromosome 5. A high-pitched monotonous cry is the significant characteristic finding 1. Epidemiology Cri du chat syndrome is rare with an incidence of 1 in 15,000-50,000 births 1. Clinical presentat...

Sharp mediastinum sign

The sharp mediastinum sign is a unique sign in neonatal chest x-rays for medial pneumothoraces or pneumomediastinum, especially as a complication to mechanical ventilation for respiratory distress syndrome (RDS). Radiographic features Plain radiograph As neonatal chest x-rays are taken with t...

Paediatric foot (lateral view)

The lateral foot view for paediatrics is one of three views in order to examine the phalanges, metatarsals and tarsal bones of the foot. Indications This projection demonstrates the foot joint orthogonal to the natural anatomical position. It is useful in diagnosing fractures, soft tissue eff...

Radial clubhand (radial deficiency)

Radial clubhand is a rare congenital birth disorder characterised by an absent thumb and a perpendicular relationship between wrist and forearm. Epidemiology Rare. Noted in around 1: 55,000 births. Bilateral up to 72% of cases. Clinical presentation Patients present with a perpendicular rela...

Protracted bacterial bronchitis

Protracted bacterial bronchitis is one of the most common causes of cough in children, particularly those aged <6 years. Is it characterised by a chronic wet cough with no associated cause and tends to respond to 2 weeks of antibiotic therapy. Epidemiology Protracted bacterial bronchitis is th...

Normal imaging examples

This article lists examples of normal imaging divided by body region and system. brain head and neck spine chest breast gastrointestinal genitourinary hepatobiliary upper limb lower limb paediatrics

Paediatric foot (medial oblique view)

The medial oblique foot view for paediatrics is one of three views performed to examine the phalanges, metatarsals and tarsal bones of the foot. Indications This projection is useful in diagnosing fractures; particularly 5th metatarsal fractures, soft tissue effusions, joint space abnormalitie...

Flat-top talus

Flat-top talus is considered a complication of non-operative treatment of congenital talipes equinovarus (clubfoot) but can also be seen in surgically treated and non-treated patients and the aetiology is not clear 1,2. It results in reduced ankle dorsiflexion due to anterior ankle impingement f...

Paediatric foot (DP view)

The dorsoplantar foot view for paediatrics is one of three views in order to examine the phalanges, metatarsals and tarsal bones of the foot. Indications This projection demonstrates the foot joint in its natural anatomical position. It is useful in diagnosing fractures, soft tissue effusions...

Subtalar arthroereisis

Subtalar arthroereisis is a non-fusion surgical treatment of paediatric symptomatic flexible flatfoot (pes planus). The procedure involves the insertion of an implant into the subtalar joint to correct excessive hindfoot eversion. Procedure There are two techniques for subtalar arthroereisis1:...

Donohue syndrome

Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive form of insulin resistance syndrome with a distinctive phenotype including elfin facies and severe disturbances of glucose homoeostasis. It is universally fatal in early childhood. Epidemiology Donohue syndrome is ver...

Foot series (paediatric)

The foot series for paediatrics consists of a dorsoplantar (DP), medial oblique and a lateral projection. Depending on the child's age and the departmental protocol, the medial oblique view may or may not be performed. Indications trauma with suspected fracture suspected dislocation ...

Elfin facies

Elfin facies refers to a characteristic facial appearance seen in certain rare congenital syndromes. Terminology Elfin facies is sometimes used synonymously with Williams syndrome and the latter is occasionally called elfin facies syndrome. However elfin facies is seen with other rare genetic ...

Ulnar bow sign

The ulnar bow sign is a radiographic indication of a plastic deformity of the ulna, its assessment is quite useful in the case of a suspected "isolated" radial head dislocation in the paediatric population 1,3. "Isolated" dislocation of the radial head is almost always in fact associated with a...

Platypnoea-orthodeoxia syndrome

Platypnoea-orthodeoxia syndrome refers to the concomitant occurrence of dyspnoea and hypoxaemia, respectively, which are precipitated by assuming an upright position and alleviated by assuming a recumbent position 4. Clinical presentation As the name of the syndrome suggests, the hallmark clin...

Overriding aorta

Overriding aortas are congenital heart defects in which the aorta is situated directly superior to a ventricular septal defect (VSD) rather than the normal position (i.e. left ventricle). As a result, the amount of oxygenated blood received by the aorta for distribution to the body is reduced. I...

Lower limb radiography (paediatric)

Lower limb radiography involves plain film imaging of the pelvis, hip, knee and ankle bones in paediatric patients. Depending on the patient's age, the difficulty of the examination will vary, often requiring a specialist-trained radiographer familiar with a variety of distraction and immobilisa...

Paediatric scaphoid (axial view)

The scaphoid axial view in paediatrics examines the scaphoid bone in its true anatomical position. Since minimising radiation dose is essential in paediatric imaging, one posteroanterior angled view of the scaphoid is usually sufficient. The scaphoid bone begins ossification at age 5 years and c...

Paediatric clavicle (AP cephalic view)

The cephalad angulation clavicle view for paediatrics is part of a two view series examining the entirety of the clavicle and the sternoclavicular and acromioclavicular joints. This view is ideally performed erect, but supine may be necessary depending on the patient's level of distress and seve...

Complications of radiation therapy

Radiation therapy has the potential to cause complications in many organ systems, many of which, especially in the thorax, are important for radiologists to be aware of. acute radiation syndrome complications of cranial radiation therapy radiation-induced cerebral vasculopathy radiation-ind...

Paediatric clavicle (AP view)

The anteroposterior clavicle view for paediatrics is part of a two view series examining the entirety of the clavicle and the sternoclavicular and acromioclavicular joints. This view is ideally performed erect, but supine may be necessary depending on the patient's level of distress and severity...

Effman Classification of urethral duplication

The Effman classification is a widely adopted system to classify the several distinct types of urethral duplication. It's considered to be the most complete classification from a clinical and functional point of view, but it's only based on male forms and does not distinguish sagittal from coron...

Practical classification of forearm fractures

The practical classification of forearm fractures is a simple descriptive classification system commonly used when assessing forearm fractures, especially in the paediatric population. Although simple, the classification provides a good guide to the management. These characteristics allow for a...

Scaphoid abdomen

Scaphoid abdomen is the term given to an inward concavity of the anterior abdominal wall. It is used both for the clinical appearance and its radiological equivalent. In children it maybe a sign of congenital diaphragmatic hernia. In both adult and paediatric patients, it raises the possibilit...

Clavicle series (paediatrics)

The clavicle series for paediatrics is a two-view series containing an anteroposterior and a cranially angled axial radiograph. Depending on the patient's level of distress and severity of the injury, adapting the radiographic technique to suit a child sitting in bed or lying supine may be neces...

Mowat-Wilson syndrome

Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies. Clinical presentation Anomalies that may be recognised at birth or in the first year of life include: CNS seizures intellectual disability distinct facial profile ocular hypertelorism, broad eyebrows,...

Dragonfly sign

Dragonfly sign describes the appearance of the cerebellum on coronal images, which is seen secondary to cerebellar atrophy in pontocerebellar hypoplasia 1. The sign is so called as the whole cerebellum resembles the shape of a dragonfly if one imagines the vermis is the body of the insect and t...

Prognathism

Prognathism or mandibular prognathism refers to a type of morphological jaw positional anomaly in which the lower jaw protrudes ahead of the upper jaw. This results in an extended chin and dental malocclusion. It can be associated with certain conditions such as acromegaly syphilis - lat...

Pica

Pica refers to a psychiatric disorder in which patients report a craving for and compulsive consumption of substances that are not food. Substances consumed include earth, clay, plaster, paint chips, string, hair, animal faeces and stones 1. Epidemiology Although the condition can present in ...

CSF alpha-fetoprotein

Alpha-fetoprotein (AFP) in the cerebrospinal spinal fluid (CSF) has been reported as a tumour marker for some intracranial tumours with yolk sac elements, and teratoma 1. Interpretation Elevation intracranial yolk sac tumour intracranial embryonal carcinoma congenital CNS tumours with yolk ...

Paediatric shoulder (lateral view)

The lateral shoulder view in paediatrics is part of a two view series examining the shoulder joint, clavicle, scapula and proximal humerus. Indications This projection is an orthogonal view of the AP shoulder and is useful in paediatric imaging for identifying potential fractures or dislocati...

Centre edge angle of Wiberg

The centre-edge angle (CEA) of Wiberg is a measurement in the pelvis which is the angle formed by Perkin line and a line from the centre of the femoral head to the lateral edge of the acetabulum. It can be used to assess for conditions such as developmental dysplasia of the hip although only con...

Suspected physical abuse - head injuries

Suspected physical abuse, also known as non-accidental injury (NAI), can result in a range of head injuries. Pathology Infants have a relatively large head size as compared to their body mass, weak neck muscles, large subarachnoid space, relatively flat skull base and pliable, thin skull. The ...

Congenital pouch colon

Congenital pouch colons are an anomaly in which there is cystic dilation of a shortened colon. They can either partially or totally replace the colon. Pathology Associations Congenital pouch colons can be associated with vaginal or vestibular fistulas and less frequently with other genitourin...

Subhepatic appendicitis

Subhepatic appendicitis refers to inflammation of the appendix in which the appendix and caecum have failed to descend inferiorly during normal development; resulting in a "subhepatic" position. Epidemiology Presentation of an inflamed subhepatic appendix is exceedingly uncommon, representing ...

Diffuse hemispheric glioma H3 G34 mutant

Diffuse hemispheric gliomas, H3 G34 mutant are rare and high grade infiltrating tumours typically presenting in adolescents and young adults. Terminology Diffuse hemispheric gliomas H3 G34 mutant have been recently included in the 5th Edition (2021) of the WHO brain tumour classification 1 amo...

Paediatric shoulder (AP view)

The anteroposterior shoulder view in paediatrics is part of a two view series examining the shoulder joint, clavicle, scapula and proximal humerus. Indications This projection demonstrates the shoulder joint in natural anatomical position and is used as an orthogonal view to the lateral shoul...

Medulloepithelioma of the brain

Medulloepitheliomas of the brain are rare, highly malignant, primitive embryonic tumours derived from the primitive medullary plate and neural tube. These tumours, once considered distinct entities, are now thought to be a pattern of embryonal tumours with multilayered rosettes. Please refer to ...

Furuncle

A furuncle, also known as a boil, is an infected hair follicle with extension through the dermis into the subcutaneous soft tissues (cf. folliculitis, a more superficial hair follicle infection, with pus limited to the epidermis). Epidemiology Risk factors Outbreaks of furunculosis are seen, ...

Thalamo-occipital distance

The thalamo-occipital distance is a marker of ventricular size in infants. It is defined as the distance between the most posterior surface of the thalamus at its junction with the choroid plexus and the outermost point of the occipital horn in the parasagittal plane 1. See also ventricular in...

Anterior horn width

The anterior horn width is a marker of ventricular dilatation. It is predominantly used in prenatal and neonatal imaging to determine ventriculomegaly. Measurement The anterior horn width is the diagonal width of the anterior horn at its widest point in the coronal plane 1. In neonates, this i...

Lead pipe fracture

The term lead pipe fracture is the term for a radiographic appearance given to a simultaneous greenstick fracture of one side of the bone (usually metaphysis) with a buckle fracture of the opposing cortex of the same bone. There are differing opinions in texts as to whether this term should be...

Ovarian agenesis

Ovarian agenesis refers to a situation where there is a congenital absence of the ovary. Epidemiology Unilateral ovary agenesis affects approximately 1 in 11,240 women while bilateral agenesis is even rarer 1. Clinical presentation Most patients with agenesis of the ovary are asymptomatic....

Acute leukoencephalopathy with restricted diffusion

Acute leukoencephalopathy with restricted diffusion (ALERD) is a clinicoradiological spectrum of disease with clinical features of leukoencephalopathy and associated imaging findings where diffusion restriction is the dominant finding. Radiographic features The dominant radiological feature is...

Doughnut sign (missed testicular torsion)

The doughnut sign, also known as the bull's-eye, halo or ring sign, is the name of a distinctive appearance of a missed testicular torsion on scrotal scintigraphy. In a missed torsion (i.e. established testicular infarction), there is a reactive hyperperfusion of the ipsilateral dartos muscle ...

Subependymal cyst

Subependymal cysts may either be postnatally acquired post-haemorrhagic cysts or may be congenital (germinolytic). The congenital cysts may result from infection, ischaemic injury, or haemorrhage. Epidemiology Subependymal cysts are most frequently seen in preterm infants, likely related to th...

Intussusception (summary)

This is a basic article for medical students and other non-radiologists Intussusception occurs when a loop of bowel is pulled into the lumen of a distal bowel loop, and is an important cause of acute abdominal pain, particularly in young children. Reference article This is a summary article; ...

Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome is a very rare genetic disorder characterised by macrostomia, wide mouth and microblepharon. Clinical presentation A few of the clinical features of this syndrome are: syndactyly zygomatic hypoplasia delayed speech microtia hypoplastic nipples excessive ...

Night sweats

Night sweats, also known as sleep hyperhidrosis, are a common clinical complaint and may herald malignancy, especially lymphoma, or infections. Patients typically report waking up in the night with sweating so severe that their clothes and bed sheets are soaked through ("drenching sweats") and n...

Dent disease

Dent disease is a very rare inherited renal disorder that is characterised by proximal tubule dysfunction. Clinical presentation polyuria hypercalciuria, renal stones and nephrocalcinosis proteinuria, although not presenting with nephrotic syndrome glucosuria aminoaciduria phosphaturia c...

Parkes weber syndrome

Parkes Weber syndrome is a rare disease, depicted by capillary malformation, venous malformation, arteriovenous malformation and lymphatic malformation in the affected limb, hypertrophy of the bone, as well as soft tissues of the involved limb. Multiple AV malformation of the affected limb will...

Shoulder series (paediatric)

The shoulder series for paediatrics is a two-view series containing anteroposterior and lateral radiographs. Depending on the patient's level of distress and the severity of the injury, adapting the radiographic technique to suit a child sitting in bed or lying supine may be necessary. Indicat...

Precipitous labour

Precipitous labour, also known as precipitous birth, is labour that happens too quickly, and is formally defined as fetal expulsion three hours or less after the start of regular uterine contractions. Contradictory and somewhat limited data demonstrates a higher risk of pregnancy-related complic...

Deferoxamine-induced bone dysplasia

Deferoxamine-induced bone dysplasia refers to abnormal bone development that may be present in patients undergoing iron-chelation therapy with deferoxamine. Deferoxamine is often used in patients with β thalassaemia major for the prevention and treatment of transfusion-related secondary haemochr...

Parastremmatic dysplasia

Parastremmatic dysplasia is a rare skeletal dysplasia that is characterised by shortening of the trunk, joint contractures, limb deformities, a short stiff neck, malformation of the pelvis, kyphosis of thoracic spine and urinary incontinence. Pathology Parastremmatic dysplasia belongs to a gro...

Neonatal aortic thrombosis

Neonatal aortic thrombosis is a rare life-threatening condition that can affect neonates admitted to the neonatal intensive care unit (NICU). Epidemiology The incidence of neonatal aortic thrombosis is 0.2% of neonates admitted to the NICU. Risk factors umbilical arterial catheters (UAC): ~8...

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