Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

860 results found
Article

Omega sign of epiglottitis

The omega sign refers to the thickened aryepiglottic folds and epiglottis seen in epiglottitis, when the larynx is seen endoscopically or via laryngoscope, and not to the appearance on lateral plain films. CT would show the finding, but placing a child with epiglottitis supine to CT their neck i...
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Omphalocoele

Omphalocoeles, or exomphalos, are congenital midline abdominal wall defects at the base of the umbilical cord insertion with herniation of gut (or occasionally other content) out of the fetal abdomen. Epidemiology The estimated occurrence can be up to 1:4000 of live births 3.  Pathology It i...
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Opsomyoclonus

Opsomyoclonus (dancing eyes-dancing feet syndrome) is a clinical syndrome which has a strong association with neuroblastoma. Clinical presentation The “opso-“ refers to the presence of intermittent jerky eye movements (dancing eyes) and the “myoclonus” to myoclonic jerks and cerebellar ataxia ...
Article

Optic pathway glioma

Optic pathway gliomas are relatively uncommon tumours, with a variable clinical course and usually seen in the setting of neurofibromatosis type I (NF1). Histologically the majority are pilocytic astrocytomas.  They are characterised by imaging by an enlarged optic nerve seen either on CT or MR...
Article

Orthoroentgenogram

Orthoroentgenogram is a radiographic study used to evaluate anatomic leg length and calculate leg-length discrepancies. This study utilises a long ruler placed on the film, and three radiographs including bilateral hips, knees and ankles. Similar studies used to evaluate true leg length include...
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Osgood-Schlatter disease

Osgood-Schlatter disease (OSD) is a chronic fatigue injury due to repeated microtrauma at the patellar ligament insertion onto the tibial tuberosity, usually affecting boys between 10-15 years. Epidemiology Osgood-Schlatter disease is seen in active adolescents, especially those who jump and k...
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Ossification centres of the elbow

There are six ossification centres of the elbow that appear and develop in a relatively reproducible fashion, and are key to assessment of the paediatric elbow radiograph. Timing of their appearance varies in the literature but an approximation is given below. A useful mnemonic to remember the o...
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Ossification centres of the foot

Primary ossification centres present at birth Visible on x-ray from birth: calcaneus: 6 months in utero talus: 7 months in utero cuboid: 9 months in utero metatarsals: 9 weeks in utero phalanges: 3-10 months (proximal to distal) Primary ossification centres developing after birth Become ...
Article

Ossifying renal tumour of infancy

Ossifying renal tumour of infancy (ORTI) is a rare renal tumour. Epidemiology extremely rare, <<1% of paediatric renal neoplasms (17 cases reported) 6 days - 3 months male predominant Pathology Histology reveals spindle cells and osteoblastic cells in a calcified osteoid matrix. It is thou...
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Osteochondritis dissecans

Osteochondritis dissecans (OCD) is the end result of the aseptic separation of an osteochondral fragment with the gradual fragmentation of the articular surface. It is often associated with intraarticular loose bodies. Epidemiology Onset is between childhood and middle age, with the majority o...
Article

Osteofibrous dysplasia

Osteofibrous dysplasia is a benign fibro-osseous cortical lesion that almost exclusively occurs in the tibia and fibula. It is most commonly seen in the mid-diaphysis of the tibia. Some consider it synonymous with ossifying fibroma because of histological similarities, but it is generally consid...
Article

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.  The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well a...
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Osteogenesis imperfecta classification

The several forms of osteogenesis imperfecta (OI) have been classified, representing wide variation in appearance and severity, and clinical features vary widely not only between types but within types. Classification OI was initially classified by type according to a scheme developed by Dr Da...
Article

Osteoid osteoma

Osteoid osteomas are benign bone-forming tumours that typically occur in children (particularly adolescents). They have characteristic lucent nidus <2 cm and surrounding solid periosteal reaction and classically cause night pain that is relieved by the use of salicylate analgesia, e.g. aspirin. ...
Article

Osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder. Epidemiology OS-CS is extremel...
Article

Osteopetrosis

Osteopetrosis, or Albers-Schönberg disease, is an uncommon hereditary disorder that results from defective osteoclasts. Bones become sclerotic and thick, but their abnormal structure results in them being both weak and brittle. There are two separate subtypes of osteopetrosis: infantile autoso...
Article

Oxycephaly

Oxycephaly (also known as turricephaly) is the most severe of the craniosynostoses and results from the premature closure of all sutures. Characterised by a tower-like skull which may be associated with: 8th cranial nerve lesion optic nerve compression mental deficiency syndactyly
Article

Paediatric cardiovascular procedures

A number of paediatric cardiovascular procedures are encountered when reporting paediatric imaging. They include: Blalock-Taussig (BT) shunt classic: end to side subclavian to ipsilateral pulmonary arterial anastomosis modified: graft anastomosis Waterston shunt Sano shunt: right ventricle ...
Article

Paediatric cervical lesions (differential)

The differential diagnosis of paediatric cervical lesions is commonly encountered in practice, unfortunately, the list is long.  Differential diagnosis Inflammatory Most lesions tend to be inflammatory 3: nontuberculous lymphadenitis scrofula sialodochitis abscess infected branchial cle...
Article

Paediatric clavicle abnormalities

The clavicle is a unique bone and as such it often displays unique pathology. The following is an attempt to summarise paediatric clavicle abnormalities. Paediatric bone tumours and tumour-like lesions of the clavicle majority of clavicular tumours are malignant Ewing sarcoma (most common) o...
Article

Paediatric curriculum

The paediatric curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core paediatric knowledge. Definition Topics pertaining to paediatric radiology, including paediatric neuroradiology and fetal radiology, although there will be some cross cov...
Article

Paediatric cystic renal diseases

The paediatric cystic renal diseases comprises a group of conditions that are all either autosomal recessive or non-hereditary: autosomal recessive polycystic kidney disease (ARPKD): hyperechoic and enlarged kidney multicystic dysplastic kidney (MCDK): absence of functional parenchyma, urete...
Article

Paediatric elbow radiograph (an approach)

Paediatric elbow radiographs are commonly encountered in the emergency department and, when approached in a systematic fashion, are not as difficult to interpret as most people think! Systematic review Ossification Check that the ossification centres are present and in the correct position. T...
Article

Paediatric kidney size

The paediatric kidneys follow a growth curve. The measurements below are of the longest maximal dimension. Measurements in parentheses are one standard deviation. 0 months 1:  female: 4.15 cm (0.35); male: 4.22 cm (0.32) 2 months: 5.28 cm (0.66) 6 months: 6.15 cm (0.67) 10 months: 6.23 cm (0...
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Paediatric liver tumour (PRETEXT grouping system)

The PRETEXT system proposed by the International Childhood Liver Tumours Strategy Group (previously called Société Internationale d’Oncologie Pédiatrique - Epithelial Liver Tumour Study Group - SIOPEL) aims for staging and risk stratification of liver tumours at diagnosis.  It is used to descri...
Article

Paediatric mediastinal masses

Paediatric mediastinal masses are the most common chest masses in children, with the anterior mediastinum being the most common site 1. As in adults, mediastinal masses are classified depending on anatomical sites: anterior mediastinal masses middle mediastinal masses posterior mediastinal m...
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Paediatric midface anomalies (classification)

This classification system based on the embryology and anatomy of the nasal cavity, nasofrontal region, and nasolacrimal apparatus as well as anomalies associated with craniofacial syndromes.2 Nasal cavity choanal atresia and stenosis pyriform aperture stenosis Nasofrontal region  conge...
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Paediatric nasal cavity masses

Paediatric nasal cavity masses can occur within the nose or the nasopharynx. These masses are often found incidentally on imaging but can be readily apparent clinically. Clinical presentation The clinical features of these lesions tend to mimic upper respiratory processes and may result in del...
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Paediatric posterior fossa tumours (mnemonic)

Tumours of the posterior fossa in children can be remembered using the mnemonic: BEAM Mnemonic The mnemonic is not in order of prevalence; pilocytic astrocytomas are most common. B: brainstem glioma E: ependymoma A: astrocytoma (pilocytic) (85%) M: medulloblastoma
Article

Paediatric radiology (curriculum)

This is a basic article for medical students and other non-radiologists Paediatric radiology curriculum for medical students covers the fundamental imaging modalities, conditions and presentations on children that require imaging. As expected and of more importance compared to adults, when con...
Article

Paediatric renal tumours and masses

Paediatric renal tumours and masses are another group of diseases (just like cystic renal diseases in both the adult and child) that are bewildering in their number, nomenclature and overlapping findings. Commoner lesions Wilms tumour: common in older children 1-8 years old mesoblastic nephro...
Article

Paediatric skeletal metasases (differential)

There is a wide range of primary malignancies that results in paediatric skeletal metastases 1: neuroblastoma leukaemia: although not truly metastases lymphoma clear cell sarcoma: Wilms’ variant rhabdomyosarcoma retinoblastoma Ewing’s sarcoma: lung metastases much more common osteosarcom...
Article

Paediatric urinary tract infection

Paediatric urinary tract infections are common and are a source of significant imaging in young children. Epidemiology Paediatric urinary tract infections affect up to 2.8% of all children every year, with approximately 2% of boys and 8% or more of girls developing a urinary tract infection at...
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Paediatric urinary tract infection (NICE guideline)

The British National Institute for Health and Care Excellence (NICE) published the “Urinary tract infection in under 16s: diagnosis and management” in 2007 as a guideline for paediatric urinary tract infection (UTI) management, including imaging, prophylaxis and follow-up 1.  This article inten...
Article

Pallister-Hall syndrome

Pallister-Hall syndrome is characterised by: hypothalamic hamartomas anal atresia renal anomalies, e.g horseshoe kidney limb malformations polydactyly cutaneous syndactyly bifid epiglottis
Article

Pancreatoblastoma

Pancreatoblastomas are rare paediatric tumours of the pancreas. However, they are the most common pancreatic neoplasm of childhood and are often associated with a raised alpha-fetoprotein. Epidemiology There is slight male predilection. Usually occurs in the first decade of life with a mean ag...
Article

Panner disease

Panner disease is an osteochondrosis of the capitellum. It should be distinguished from osteochondritis dissecans of the elbow which also affects the capitellum.  Epidemiology Panner disease is typically seen in children (5-10 years of age), although it is also seen in throwers due to repeated...
Article

Parachute mitral valve

A parachute mitral valve is a valvular congenital abnormality usually identified in infants or young children though is can present later in adulthood. Pathology Parachute mitral valves occur when all the chordae tendineae are attached to a single papillary muscle origin. Unlike the normal sit...
Article

Parapagus

Parapagus twins are conjoined twins that lie side-by-side with ventrolateral fusion.  This type of conjoined twins usually shares the umbilicus, abdomen, and pelvis. The conjoined pelvis may have a single symphysis pubis and one or two sacra.  The lower gastrointestinal tract (single colon and...
Article

Parotid infantile haemangioma

Parotid infantile haemangiomas are the most common parotid tumour of childhood. They usually run a characteristically benign course. Epidemiology The median age at diagnosis is 4 months 1. There is female preponderance with a male:female ratio of 1:3. Clinical presentation Presents as en enl...
Article

Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. This along with Down syndrome (T21) and Edward syndrome (T18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.  Epidemiology The es...
Article

Patellar sleeve fractures

Patellar sleeve fractures represent chondral or osteochondral avulsion injury at the inferior pole of the patella. Epidemiology Patellar sleeve fractures occur in the paediatric population, typically between 8 and 12 years of age. Clinical presentation Unlike Sinding-Larsen-Johannson disease...
Article

Patent ductus arteriosus

Patent ductus arteriosus or arteriosum (PDA) is a congenital cardiac anomaly where there is persistent patency of the ductus arteriosus, a normal connection of the fetal circulation between the aorta and the pulmonary arterial system that develops from the 6th aortic arch. Epidemiology PDAs oc...
Article

Patent urachus

A patent urachus is one of the spectrum of congenital urachal anomalies. It has occasionally been termed "urachal fistula". Clinical presentation A patent urachus is often diagnosed in neonates when urine is noted leaking from the umbilicus. The umbilicus may also have an abnormal appearance o...
Article

Patterns of neonatal hypoxic–ischaemic brain injury

Neonatal hypoxic ischaemic brain injuries can manifest in different patterns of involvement depending on the severity and timing of the insult. When considering the perinatal maturation process of the brain and the severity of an insult, it is possible to understand the various manifestations. ...
Article

PECARN traumatic brain injury algorithm

The PECARN (Paediatric Emergency Care Applied Research Network) traumatic brain injury algorithm is a clinical decision rule that aims to identify children at very low risk of clinically important traumatic brain injury (ci-TBI) 1. This validated paediatric algorithm predicts likelihood of the a...
Article

Pectus carinatum

Pectus carinatum, otherwise known as a pigeon chest, refers to a chest wall deformity in which the sternum protrudes anteriorly. It is less common than pectus excavatum. Clinical presentation Patients may present with dyspnoea and exercise intolerance. Pathology Associations scoliosis (comm...
Article

Pectus excavatum

Pectus excavatum (or funnel chest) is a congenital chest wall deformity characterised by concave depression of the sternum, resulting in cosmetic and radiographic alterations. Epidemiology It is the most common chest wall deformity, accounting for approximately 90% of cases, and occurs in up t...
Article

Pelvic osteotomy

Pelvic osteotomy relates to an orthopaedic treatment for developmental acetabular dysplasia of the hip. The main purpose of pelvic osteotomy is the prevention of early degenerative changes by stabilisation of the hip and redistribution of joint loading. It is obtained by surgical reshaping/remo...
Article

PELVIS syndrome

PELVIS or LUMBAR syndrome is the combination of pelvic haemangiomas with other extracutaneous abnormalities. The syndrome may be incomplete.   Pathology PELVIS perineal haemangiomas external genital malformations lipomyelomeningocele vesicorenal anomalies imperforate anus skin tag LUMBA...
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Pelviureteric junction obstruction

Pelviureteric junction (PUJ) obstruction/stenosis, also known as ureteropelvic junction (UPJ) obstruction/stenosis, can be one of the causes of an obstructive uropathy. It can be congenital or acquired with a congenital PUJ obstruction being one of the commonest causes of antenatal hydronephrosi...
Article

Pentalogy of Cantrell

The pentalogy of Cantrell is an extremely rare phenomenon with an incidence estimated at around 6 per million live births 3.  It encompasses the following 5 main features 1. omphalocoele ectopia cordis (abnormal location of heart) diaphragmatic defect pericardial defect or sternal cleft ca...
Article

Pentalogy of Fallot

The pentalogy of Fallot is a variant of the more common tetralogy of Fallot, comprising the classical four features with the addition of an atrial septal defect or patent ductus arteriosus The five features therefore are: ventricular septal defect (VSD)  right ventricular outlfow tract narro...
Article

Pepper syndrome

Pepper syndrome is of interest only (the term is not readily used in day-to-day practice), and refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). 
Article

Pericallosal lipoma

Pericallosal lipomas are fat-containing lesions occurring in the interhemispheric fissure closely related to the corpus callosum, which is often abnormal. It is the most common location for an intracranial lipoma. On imaging, they can be identified in two different morphologies: tubulonodular, ...
Article

Perinatal lethal hypophosphatasia

Perinatal lethal hypophosphatasia (PLH) is the most severe form of hypophosphatasia. If untreated, it is lethal in all cases. Epidemiology The estimated incidence is at ~1:100,000 live births. Pathology Genetics As with all hypophosphatasia cases, this is due to a mutation in chromosome 1q3...
Article

Periosteal new bone formation in children

Periosteal reaction in the paediatric population, also known as periostitis in children, is relatively common occurrence and can result from many causes. Differential diagnosis The differential diagnosis for multiple bone periostitis include but not limited to the following: physiological per...
Article

Peripheral primitive neuroectodermal tumour

Peripheral primitive neuroectodermal tumours (pPNET) tend to be large and aggressive retroperitoneal tumours.  The imaging characteristics of peripheral PNETs are nonspecific. However, they should be considered in the differential diagnosis of a large, aggressive retroperitoneal mass. See also...
Article

Periventricular leukomalacia

Periventricular leukomalacia (PVL) or white matter injury of prematurity affecting the periventricular zones, and typically results in cavitation and periventricular cyst formation.  It is important to note that both periventricular and subcortical leukomalacia correspond to a continuous diseas...
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Periventricular leukomalacia classification

One of the methods used for grading of periventricular leukomalacia based on sonographic appearances is as: grade 1: areas of increased periventricular echogenicity without any cyst formation persisting for more than 7 days grade 2: the echogenicity has resolved into small periventricular cyst...
Article

Perkin line

Perkin line is a line drawn perpendicular to Hilgenreiner line, intersecting the lateral most aspect of the acetabular roof.  The upper femoral epiphysis should be seen in the inferomedial quadrant: it should lie below Hilgenreiner line, and medial to Perkin line. If the nucleus of the femoral ...
Article

Persistent hyperplastic primary vitreous

Persistent hyperplastic primary vitreous (PHPV), also known as the persistent fetal vasculature, refers to a rare congenital developmental malformation of the eye. Clinical presentation Clinically, this condition usually manifests as unilateral or bilateral leucocoria. Patients may also have p...
Article

Perthes disease

Perthes disease (also referred to as Legg-Calvé-Perthes disease) refers to idiopathic osteonecrosis of the femoral epiphysis seen in children. It should not be confused with Perthes lesion of the shoulder. It is a diagnosis of exclusion and other causes of osteonecrosis (including sickle cell d...
Article

Perthes disease (summary)

This is a basic article for medical students and other non-radiologists Perthes disease is the name given to idiopathic AVN (avascular necrosis) of the femoral epiphysis in children. It most often occurs in children around the age of 5-6 years and is one of the common considerations when childr...
Article

PHACE syndrome

PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: P: posterior fossa malformations (e.g. Dandy-Walker malformation) H: haemangiomas A: arterial anomalies C: coarctation of the aorta and ...
Article

Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism resulting from abnormal metabolism of phenylalanine. If untreated, patients can develop central nervous system impairment.  Epidemiology PKU is inherited as an autosomal recessive disorder with an incidence of 1 in 10,000. It is more commo...
Article

Physeal bar

Physeal bars are interruptions of the normal growth plate cartilage, due to the formation of a bony or fibrous bridge between the epiphysis and metaphysis. Left untreated, physeal bars can cause abnormal bone angulation or limb length discrepancies. Clinical presentation  Physeal bars are not ...
Article

Physeal fracture

Physeal fractures (also called Salter-Harris fractures) are important childhood fractures that involve the physeal plate. They are relatively common and important to differentiate from other injuries because the involvement of the physis (growth plate) may cause premature closure resulting in li...
Article

Pilocytic astrocytoma

Pilocytic astrocytomas, also known as juvenile pilocytic astrocytomas, are low-grade, relatively well-defined astrocytomas that tend to occur in young patients. They are considered WHO grade I tumours in the current (2016) WHO classification of CNS tumours and correspondingly have a relatively g...
Article

Ping pong skull fracture

Ping pong skull fracture or pond skull fracture refers to a depressed skull fracture of the infant skull caused by inner buckling of the calvarium. It is seen in newborns because of the soft and resilient nature of their bones (like greenstick fractures of long bones) and the fracture line is no...
Article

Pink tetralogy of Fallot

Pink tetralogy of Fallot refers to a tetralogy of Fallot in which the degree of right ventricular outflow obstruction is minimal, resulting no significant right to left shunt, and therefore no cyanosis. Symptoms are mild and presentation may be delayed, even into adulthood. See also tetralogy ...
Article

Plagiocephaly

Plagiocephaly refers to a type of craniosynostosis in which there is asymmetric premature closure of the coronal and/or lambdoid sutures. It can either involve single or asymmetric multiple sutures. Premature coronal suture closure is associated with the Harlequin eye deformity. History and ety...
Article

Platyspondyly

Platyspondyly is a radiographic feature and refers to flattened vertebral bodies throughout the axial skeleton. Pathology Associations Platyspondyly can be feature of many conditions which include: severe Gaucher disease 1 metatrophic dysplasia Morquio syndrome osteogenesis imperfecta Ro...
Article

Pleuropulmonary blastoma

Pleuropulmonary blastomas (PPB) are a rare, variably aggressive, childhood primary intrathoracic malignancy. In up to 25% of cases, the mass can be extrapulmonary with attachment to the parietal pleura.  Epidemiology PPB is encountered in childhood, mostly in the first years of life (90% in th...
Article

Pneumatosis coli

Pneumatosis coli is a descriptive sign presenting radiographically as intramural gas limited to the colonic wall.  Terminology There are different terminologies in the medical literature, such as pneumatosis intestinalis, pneumatosis coli, and pneumatosis cystoides intestinalis. Pneumatosis in...
Article

Porencephaly

Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. The term is used variably among radiologists with its broadest definition being a cleft or cystic cavity within the brain 9, and its more narrow definitio...
Article

Positional plagiocephaly

Positional plagiocephaly, also known as deformational plagiocephaly, refers to a calvarial deformation that results from external pressure after birth when an infant is consistently placed in the same position for rest and sleep. It can be marked in very premature infants, whose heads become fla...
Article

Posterior fossa astrocytoma

Posterior fossa astrocytomas, those arising either from the cerebellum or from the brainstem are most frequently seen in children. Approximately 60% of all paediatric astrocytomas are found in the posterior fossa (20% brainstem, 40% cerebellum). Many types of astrocytoma are found in the poster...
Article

Posterior urethral valves

Posterior urethral valves (PUVs), also referred as congenital obstructing posterior urethral membranes (COPUM), are the most common congenital obstructive lesion of the urethra and a common cause of obstructive uropathy in infancy. Epidemiology Posterior urethral valves are congenital and only...
Article

Potter sequence

The Potter sequence is a constellation of findings demonstrated postnatally as a consequence of severe, prolonged oligohydramnios in utero. Clinical presentation It consists of: pulmonary hypoplasia: often severe and incompatible with life growth restriction (IUGR) abnormal facies (Potter f...
Article

Potter syndrome (mnemonic)

A helpful mnemonic to remember the common clinical features of Potter syndrome: POTTER P: pulmonary hypoplasia O: oligohydramnios T: twisted skin (wrinkly skin) T: twisted face (Potter facies: low set ears, retrognathia, hypertelorism) E: extremity deformities (limb deformities: club hands...
Article

Pott puffy tumour

Pott puffy tumour refers to a non-neoplastic complication of acute sinusitis. It is characterised by a primarily subgaleal collection, subperiosteal abscess, and osteomyelitis. It is usually related to the frontal sinus but is sometimes secondary to mastoid pathology. Rarer aetiologies include ...
Article

Pott shunt

A Pott shunt is a form of palliative surgery performed in patients with tetralogy of Fallot prior to the ability to repair the defect. It consists of a shunt formed between the descending thoracic aorta and the left pulmonary artery. This does not relieve the right ventricular outflow obstructi...
Article

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic disorder. It is the most common cause of obesity caused by a genetic syndrome and is primarily characterised by: neonatal hypotonia sexual infancy: hypogonadism obesity there usually morbid obesity resulting from hyperphagia is amplified by decre...
Article

Preauricular sinus

Preauricular sinuses 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 most common in East Asian populations with an incidence of...
Article

Pre-axial polydactyly

Pre-axial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially). Epidemiology Pre-axial polydactyly is less common than post-axial polydactyly, with an estimated incidence of 1 in 7000. Pathology Associations Pre...
Article

Premature closure of a growth plate (differential)

Premature closure of a growth plate subsequently results in a shortened bone, which can occur in a number of situations.  Pathology Common aetiologies local hyperaemia infection: osteomyelitis juvenile chronic arthritis juvenile rheumatoid arthritis haemophilia arteriovenous malformation...
Article

Prenatal onset infantile cortical hyperostosis

Prenatal onset infantile cortical hyperostosis is a rare variant of infantile cortical hyperostosis; however, it is a more severe and lethal form and newborns die early postnatally. Pathology Both sporadic and autosomal recessive inheritance have been suggested. A missense mutation in gene (C...
Article

Primary ciliary dyskinesia

Primary ciliary dyskinesia, also known as immotile cilia syndrome, is the result of a congenital defect in the ultrastructure of cilia that renders them incapable of normal movement. It is associated with a number of anatomic and functional abnormalities. Epidemiology Primary ciliary dyskinesi...
Article

Primitive neuroectodermal tumour of the CNS

Primitive neuroectodermal tumours (or CNS PNET) were considered aggressive neoplasms of the brain, most frequently encountered in the paediatric population. Importantly, the term no longer appears in the current WHO classification of CNS tumours 11-12.  Please refer to embryonal tumours with mu...
Article

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterised by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. It is suspected to be a genetic condition, but a particular ...
Article

Proximal focal femoral deficiency

Proximal femoral focal deficiency (PFFD) is a congenital partial absence of the proximal end of the femur with shortening of the entire lower limb. The diagnosis and classification have been based mainly on plain radiograph findings. This method does not permit definite classification during the...
Article

Proximal radio-ulnar synostosis

A proximal radio-ulnar synostosis is an upper limb skeletal malformation characterised by bony fusion at the proximal aspect of the radius and ulna. Of the radio-ulnar synostoses, the proximal third is considered the most common site.  Pathology It is often congenital but can rarely result fol...

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