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Leptomeningeal cyst

Leptomeningeal cysts, also known as growing skull fractures, are an enlarging skull fracture that occurs near post-traumatic encephalomalacia. The term cyst is actually a misnomer, as it is not a cyst, but an extension of the encephalomalacia. Hence, it is usually seen a few months post-trauma. ...

Gallbladder ghost triad

Gallbladder ghost triad is a term used on ultrasound studies when there is a combination of three gallbladder features on biliary atresia: atretic gallbladder, length less than 19 mm irregular or lobular contour lack of smooth/complete echogenic mucosal lining with an indistinct wall The te...

Ectopic ureter

An ectopic ureter is a congenital renal anomaly that occurs as a result of abnormal caudal migration of the ureteral bud during its insertion to the urinary bladder. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. In females, the most common ...

Lumbar Scheuermann disease

Lumbar Scheuermann disease is a type of variant Scheuermann disease where there is no abnormal kyphosis. This has been reported in the lumbar spine and thoracolumbar junction of patients of all ages, and back pain may be present. On imaging, affected individuals can have vertebral endplate chan...

Tectal beaking (midbrain)

Tectal beaking refers to the fusion of the midbrain colliculi into a single beak pointing posteriorly and invaginating into the cerebellum. It is seen with a Chiari type II malformation. Terminology The term bird beak sign is used in a number of other contexts: see bird beak sign (disambiguati...

Hindfoot valgus

Hindfoot valgus refers to malalignment of the hindfoot in which the mid-calcaneal axis is deviated away from the midline of the body. On the DP view, this results in an increase in the angle between the mid-calcaneal axis and the mid-talar axis (talocalcaneal angle) 1. Despite abduction of th...

Weightbearing foot series (an approach)

Reporting a weightbearing foot series can be a daunting process if you are inexperienced and often results in the films being left for somebody else to report. This article attempts to demystify the whole process by providing a structured approach to their reporting. Technique The weightbearin...

Foot (weight-bearing lateral view)

The weight-bearing lateral foot radiograph is important in the assessment of foot alignment and the diagnosis of abnormalities that cause malalignment and foot pain. Nonweightbearing views (e.g. lateral foot) would be inadequate for the assessment of alignment as the bones of the feet are not in...

Accessory ossicles

Accessory ossicles are secondary ossification centers that remain separate from the adjacent bone. They are usually round or ovoid in shape, occur in typical locations and have well defined smooth cortical margins on all sides. In most cases, they are congenital in origin, although they may occ...

Blueberry muffin syndrome

Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis. The syndrome was originally described in congenital...

Pepper syndrome

Pepper syndrome is a term not readily used in day-to-day practice and usually refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). Cohen syndrome, a genetic disorder, is sometimes referred to a...

Interatrial septal aneurysm

Interatrial septal aneurysm or atrial septal aneurysm (ASA) is defined as an abnormal protrusion of the interatrial septum. The exact length of the protrusion that defines an interatrial septal aneurysm varies in the literature, ranging from >11 mm to >15 mm beyond normal excursion in adults 4,5...

Pediatric liver tumor staging (PRETEXT grouping system)

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

Hindfoot equinus

Hindfoot equinus describes abnormal plantarflexion (calcaneotibial angle >90°) of the foot that occurs in the hindfoot. It occurs in congenital talipes equinovarus and congenital vertical talus.

Umbilical cord

The umbilical cord is a fetal organ that connects the placenta to the developing fetus and is a vital passage for nutrients, oxygen and waste products to and from the fetus. Gross anatomy The umbilical cord inserts into the center of the placental bulk and into the fetus at the umbilicus. Vari...

Hindfoot varus

Hindfoot varus describes a relatively varus position of the calcaneus which is adducted and rotated under the talus. This is best appreciated on a weightbearing DP foot radiograph as a relative reduction in the angle formed between the mid-talar and mid-calcaneal axes (the talocalcaneal angle). ...

Cases in radiology (video tutorials)

The cases featured in these video lectures are specifically selected to teach important concepts in radiology over a broad range of topics. The tutorials vary in difficulty from basic to advanced. For maximum learning, try the cases for yourself in Radiopaedia quiz mode first. We love this ser...

Mauclaire disease

Mauclaire disease, also known as Dietrich disease, is a rare disease and refers to osteonecrosis of the metacarpal heads, which usually appears between ages of 13 and 18 years 1,2. This condition may lead to early closure of epiphyseal growth plate and growth disturbance of the involved finger. ...

Thiemann disease

Thiemann disease (also called familial osteoarthropathy of the fingers or osteonecrosis of the base of phalanx) is a non-inflammatory disorder of unknown etiology and refers to osteonecrosis of the epiphyses of the phalanges which leads to deformity of the fingers. Epidemiology Thiemann diseas...

Thumb sign (epiglottitis)

The thumb sign in epiglottitis is a manifestation of an edematous and enlarged epiglottis which is seen on lateral soft-tissue radiograph of the neck, and it suggests a diagnosis of acute infectious epiglottitis. This is the radiographic corollary of the omega sign 1-3. See also Thumb sign is ...

Mineralizing microangiopathy

Mineralizing microangiopathy is a condition characterized by parenchymal cerebral calcifications and is usually seen in children as a complication of cranial radiotherapy and chemotherapy 1,2. Radiographic features Mineralizing microangiopathy can affect the brain widely, with typical sites in...

Oxycephaly

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

Bone age assessment

Bone age assessment is used to radiologically assess the biological and structural maturity of immature patients from their hand and wrist x-ray appearances. It forms an important part of the diagnostic and management pathway in children with growth and endocrine disorders. It is helpful in the ...

Cystic lung lesions (pediatric)

Cystic lesions in pediatric patients are usually congenital lesions and, as such, can be seen antenatally and following delivery. Pathology Etiology Congenital These congenital lesions are predominantly covered by the overarching diagnosis of bronchopulmonary foregut malformation. This is a ...

Radiocapitellar line

The radiocapitellar line is one of the key lines used to assess alignment on the elbow radiograph. It is particularly useful in the pediatric setting. Measurement A line drawn down the neck of the radius should intersect the capitellum. It is important to ensure that you draw the line down the...

Anterior humeral line

The anterior humeral line is key to demonstrating normal elbow alignment and should be used whenever reading a pediatric elbow radiograph to exclude a subtle supracondylar fracture. Measurement A line drawn down the anterior surface of the humerus should intersect the middle third of the capit...

Ossification centers of the elbow

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

Lateral humeral condyle fracture

Lateral humeral condyle fractures also referred to simply as lateral condyle fractures (in the appropriate context), are relatively common elbow fractures that predominantly occur in children. They may be subtle but are hugely important to diagnose in a timely manner because if they are missed, ...

Humeral condyle fracture

Humeral condyle fractures represent fractures through the medial or lateral distal humeral condyles.

Epicondyle fracture (elbow)

Epicondyle fractures are common injuries in children. They represent 10% of all elbow fractures in children and usually occur in boys after a fall on an outstretched arm. Medial epicondyle fractures comprise most of these injuries. They can usually be treated with splinting and early physiother...

Incomplete fracture

Incomplete fractures are a heterogeneous group of fractures that predominantly occur in the long bones of pediatric patients. Rang 1 describes a continuum of fractures that occur with increasing longitudinal force applied along the length of the bone. At the point where force exceeds the structu...

Mushroom sign (pyloric stenosis)

The mushroom sign (also called umbrella sign) is a radiological sign described in pyloric stenosis on barium examination. This sign refers to the impression made by the hypertrophic pylorus on the duodenal cap. See also shoulder sign double track sign caterpillar sign string sign beak sign

Double track sign (pyloric stenosis)

The double track sign is a radiological sign described in pyloric stenosis on various imaging modalities. Barium study Double streaks of barium passing through the narrow pylorus 1. Ultrasound On fluid aided real-time examination, the pyloric fluid is compressed into smaller tracks as it is...

Nasal encephalocele

Nasal encephaloceles are in most cases a form of neural tube defect particularly common in Southeast Asia. There is herniation of cranial content through a bony defect in the anterior skull base into the nasal area. The term is variably used but generally encompasses both frontoethmoidal enceph...

Neuhauser sign (distal ileum)

Neuhauser sign refers to a soap bubble appearance seen in the distal ileum in cases of meconium ileus, related to the air mixed with meconium. It may be seen with barium enema if contrast passes beyond the ileocecal valve or with small-bowel follow-through. Although classically described with m...

Heiner syndrome

The Heiner syndrome is a rare form of primary pulmonary hemosiderosis associated with an allergy to cow's milk. The syndrome includes: rectal blood loss with hypochromic microcytic anemia pulmonary infiltrates (often recurrent) hypoproteinemia See also pulmonary hemosiderosis

Ischiopubic synchondrosis asymmetry

Ischiopubic synchondrosis asymmetry (also known as van Neck-Odelberg disease) is characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding. However, some ...

Rhabdomyosarcomas (biliary tract)

Rhabdomyosarcomas of the biliary tract are rare tumors, usually identified in children, with a very poor prognosis. They are usually grouped under botryoid rhabdomyosarcomas. For a general discussion of this type of tumor, please refer to the article on rhabdomyosarcomas. Epidemiology Rhabdom...

Triangular cord sign (biliary atresia)

The triangular cord sign is a triangular or tubular echogenic cord of fibrous tissue, representing the ductal remnant of the extrahepatic bile duct, seen in the porta hepatis at ultrasonography, and is relatively specific for the diagnosis of biliary atresia 1,2. This sign is useful in the eval...

Situs solitus

Situs solitus (rare plural: sitūs soliti) refers to the normal position of the thoracic and abdominal organs. This will include a left-sided heart, also known as levocardia. Radiographic features Plain radiograph On plain radiograph, careful attention should be directed at the location of the...

Fishtail deformity (elbow)

Fishtail deformity of the elbow is characterized by a contour abnormality of the distal humerus, which develops when the lateral trochlear ossification centers fail to develop or resorbs 1,2. Pathology It is a rare complication that can develop following a distal humeral fracture (e.g. suprac...

Dacryocystocele

Dacryocystoceles are caused by obstruction of both the proximal and distal ends of the nasolacrimal duct. An imperforate Hasner valve causes the distal blockage, but the cause of proximal obstruction is less clearly understood but the Rosenmuller valve has been implicated. Epidemiology Dacryo...

Pediatric 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...

Midface anomalies in children

Midface anomalies (craniofacial syndromes ) in children include Apert syndrome Crouzon syndrome Pfeiffer syndrome Treacher Collins syndrome Roberts syndrome Coffin-Lowry syndrome Saethre-Chotzen syndrome Noack syndrome Jackson-Weiss syndrome Carpenter syndrome Lowr...

Wimberger ring sign

Wimberger ring sign, often simply just called Wimberger ring, refers to a circular calcification surrounding the osteoporotic epiphyseal center of ossification in scurvy, which may result from bleeding. It must not be confused with Wimberger sign, pathognomonic for congenital syphilis. History...

Wimberger sign

The Wimberger sign, also called Wimberger corner sign, refers to localized bilateral metaphyseal destruction of the medial proximal tibias. It is a pathognomonic sign of congenital syphilis. The term must not be mistaken for the Wimberger ring sign seen in scurvy, as both entities are often con...

Glutaric aciduria type 1

Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. It has a highly variable clinical presentation, and laboratory investigations are not always diagnostic. Imaging, therefore, has an important role to play as the MRI features can be characteristic. ...

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a rare organic aciduria but has characteristic MRI findings especially in the early stages 1. This can allow for early diagnosis, often prior to biochemical investigations. Epidemiology As it is inherited in an autosomal recessive fashion, consanguineous marriag...

Sprengel deformity

Sprengel deformity, or congenital elevation of the scapula, is a complex deformity of the shoulder and is the most common congenital shoulder abnormality. An initial diagnosis can often be made on radiographs, but CT or MRI is often necessary to evaluate the details of the abnormality. Epidemio...

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease, refers to a rare inherited autosomal recessive disease characterized by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration. Epidemiology The age at symptoms m...

Lytic skull lesion

Lytic skull lesions have a relatively wide differential that can be narrowed, by considering if there are more than one lesion and whether the mandible is involved. Pathology Causes lytic skeletal metastases multiple myeloma epidermoid - scalloped border with a sclerotic rim eosinophilic g...

Gastric duplication cyst

Gastric duplication cysts are rare congenital foregut duplication cysts affecting the stomach. Gastrointestinal tract duplication cysts (GTDCs) most commonly affect the ileum, followed by the esophagus, large bowel, and jejunum; gastric location accounts for less than 10% of all gastrointestinal...

Nephrotic syndrome

Nephrotic syndrome results from loss of plasma proteins in the urine and characterized by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and edema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. Clinical presentation Patients present with marked...

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...

Neurofibroma

Neurofibromas are benign (WHO grade 1) peripheral nerve sheath tumors usually solitary and sporadic. There is, however, a strong association with neurofibromatosis type 1 (NF1), particularly for the plexiform subtype. These tumors present as a well-defined hypodense mass with minimal or no con...

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...

Midaortic syndrome

Midaortic syndrome is an uncommon entity affecting children and young adults. It is characterized by progressive narrowing of the abdominal aorta and its major branches. Clinical presentation The onset of symptoms is usually during childhood or young adulthood 2: hypertension (most common) i...

Spinal neurenteric cyst

Spinal neurenteric cysts are a rare type of foregut duplication cyst, accounting for ~1% of all spinal cord tumors. They are usually classified as spinal or intracranial and are associated with vertebral or CNS abnormalities respectively. Pathology Neurenteric cysts result from incomplete res...

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. Clinical presentation Affected patients usually appear nor...

Pulmonary aplasia

Pulmonary aplasia is a rare congenital pathology in which there is unilateral or bilateral absence of lung tissue. It is different from pulmonary agenesis, which although similar, the main difference is a short-blind ending bronchus in aplasia 3. It is usually unilateral, as bilateral pulmonary...

F P Weber syndrome

F P Weber syndrome (FPWS) is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classification of CVMs. In his original...

Hydrocele

Hydroceles are acquired or congenital serous fluid collections between the layers of the tunica vaginalis surrounding a testis or spermatic cord. They are the most common form of "testicular" enlargement and present with painless enlargement of the scrotum. On all modalities, hydroceles appear a...

Lateral epicondyle fracture (elbow)

Lateral epicondyle fractures of the elbow are rare epicondylar fractures. They are much rarer than medial epicondyle fractures and represent avulsion of the lateral epicondyle. They are usually seen in the setting of other injuries 1-3. Terminology These fractures are avulsion fractions of th...

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a very rare metabolic disorder. It is an inborn error of amino acid metabolism, which classically affects the brain tissue resulting in impairment or death if untreated. Epidemiology MSUD occurs in 1 in 185,000 births 9. Clinical presentation It usually ma...

Frykman classification of distal radial fractures

The Frykman classification of distal radial fractures is based on the AP appearance and encompasses the eponymous entities of Colles fracture, Smith fracture, Barton fracture, chauffeur fracture. It assesses the pattern of fractures, involvement of the radioulnar joint and presence of a distal u...

Parachute mitral valve

A parachute mitral valve is a valvular congenital abnormality usually identified in infants or young children, though it 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 s...

Mesenchymal hamartoma of the chest wall

A mesenchymal hamartoma of the chest wall is a very rare benign chest wall tumor. It is sometimes classified as a non-neoplastic developmental anomaly rather than a tumor. Epidemiology They typically present in neonates or infants 1-3. Clinical presentation Many present with a chest wall mas...

Hepatic mesenchymal hamartoma

Hepatic mesenchymal hamartomas are uncommon benign hepatic lesions which are mostly seen in children under the age of 2. Some authors consider them to be developmental anomalies rather than cystic neoplasia 9,12. Epidemiology Hepatic mesenchymal hamartomas typically occur in children and neon...

Rasmussen encephalitis

Rasmussen encephalitis, also known as chronic focal encephalitis, is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere. It is not to be confused with a Rasmussen aneurysm. Epidemiology Most cases (85% cases) occur in children under the age of 10 years 1....

Sotos syndrome

Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth. Epidemiology There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...

Sakati-Nyhan syndrome

The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly. Its main features include: craniofacial defects congenital limb abnormalities congenital heart defects History and etymology It w...

Ectrodactyly-ectrodermal dysplasia-clefting syndrome

Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of ectrodactyly +/- syndactyly 1 +/- polydactyly 5 ectrodermal dysplasia facial clefts: cleft lip and/or palate Pathology Genetics ...

Meckel diverticulum

Meckel diverticulum is a congenital intestinal diverticulum due to fibrous degeneration of the umbilical end of the omphalomesenteric (vitelline) duct that occurs around the distal ileum. It is considered the most common structural congenital anomaly of the gastrointestinal tract. Epidemiology ...

Malignant liver tumors (pediatric)

Pediatric malignant liver tumors are rare, some of which occur only in children but that are similar to those that occur in adults. Epidemiology Malignant liver tumors account for ~1% of pediatric malignancies 2. Pathology Broadly, any malignant liver mass can be defined as a metastasis or p...

Pediatric benign liver tumors

Pediatric benign liver tumors are a relatively rare, but important group of conditions. Importantly, the commonest cause of a benign liver tumor is specific to the pediatric population. The list in descending order of frequency is: infantile hepatic hemangioma (previously hemangioendothelioma) ...

Liver lesions (pediatric)

Pediatric liver lesions are a heterogeneous group that includes infiltrative lesions and those that demonstrate mass-effect. Moreover, they may be solitary or multiple, benign or malignant: benign liver tumors malignant liver tumors Epidemiology There are differing frequencies of both benign...

Intra-abdominal calcification (neonatal)

Intra-abdominal calcification in a neonate can be caused by a number of pathologies that cause calcification within the peritoneal space or within organs. Pathology Etiology Meconium peritonitis The commonest cause is meconium peritonitis which is the result of aseptic peritonitis secondary ...

Neonatal bilious vomiting

Neonatal bilious vomiting has a relatively narrow differential - those conditions that cause intestinal obstruction but do so distal to the ampulla of Vater. As such, the list includes: malrotation with midgut volvulus duodenal atresia jejunoileal atresia meconium ileus necrotizing enteroc...

Coxa vara

Coxa vara describes a deformity of the hip where the femoral neck-shaft angle is decreased, usually defined as less than 120 degrees. Pathology It can be congenital or acquired. The common mechanism in congenital cases is a failure of medial growth of the physeal plate 3. Classification On...

Metaphyseal dysplasia

Metaphyseal dysplasia (also known as Pyle disease, metaphyseal chondrodysplasia, metaphyseal dysostosis) is a rare autosomal recessive disorder characterized by flaring of the ends of long bones with relative constriction and sclerosis of the diaphysis and mild cranial sclerosis. It is one of th...

Neonatal chest radiograph in the exam setting

The neonatal chest radiograph in the exam setting may strike fear into the heart of many radiology registrars, but it need not! There are only a limited number of diagnoses that will be presented on such films and they are often highlighted by the history. Gestation First of all, have a look ...

Ectodermal dysplasia

Ectodermal dysplasia (ED) refers to a heterogeneous group of genetic disorders that cause abnormal ectoderm development. The effect is a non-progressive defect in the development of two or more tissues derived from embryonic ectoderm. Epidemiology Ectodermal dysplasia is rare with an estimate...

Coxa valga

Coxa valga describes a deformity of the hip where there is an increased angle between the femoral neck and femoral shaft. Pathology Coxa valga is often associated with shallow acetabular angles and femoral head subluxation. Etiology bilateral neuromuscular disorders, e.g. cerebral palsy ...

SHORT syndrome

SHORT syndrome refers to an acronym which primarily comprises of the following features: S: short stature H: hyperextensibility of joints and/or inguinal hernia O: ocular depression R: Rieger anomaly T: teething delay In addition to these there can be numerous associated minor features whi...

Camptodactyly arthropathy coxa vara pericarditis syndrome

Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy coxa vara deformity or other dysplasia associated with progressive hip disease pericardit...

Lissencephaly type I - subcortical band heterotopia spectrum

Lissencephaly type I, also known as classic lissencephaly, is a heterogeneous group of disorders of cortical formation characterized by a smooth brain, with absent or hypoplastic sulci and is strongly associated with subcortical band heterotopia (see classification system for cortical malformati...

Lissencephaly type II

Lissencephaly type II is characterized by reduction in normal sulcation, associated with a bumpy or pebbly cortical surface (thus the term cobblestone lissencephaly), absent in lissencephaly type I. Unlike type I lissencephaly which is the result of neuronal undermigration, type II is due to ove...

Trampoline fracture

Trampoline fractures are transverse fractures of the proximal tibial metaphysis that occur in children while jumping on a trampoline (or inflatable castle). The fracture is thought to occur when a second, usually heavier individual causes the jumping surface to recoil upwards as the unsuspectin...

Classification system for midline abnormalities of the brain and skull

Classification systems for midline abnormalities of the brain and skull are varied and constantly changing as the underlying embryology and genetics are uncovered. A relatively simple and robust classification system is based on the location of abnormalities, always remembering that midline abno...

Classification system for malformations of the cerebellum

Classification systems for malformations of the cerebellum are varied and are constantly being revised as greater understanding of the underlying genetics and embryology of the disorders is uncovered. A classification proposed by Barkovich et al. in 2009 1 divides cerebellar malformations in two...

Classification system for malformations of cortical development

The classification system for malformations of cortical development organizes myriad conditions into one of three major underlying groups according to the main underlying mechanism: group I: abnormal cell proliferation or apoptosis group II: abnormal neuronal migration group III: abnormal cor...

Adams-Oliver syndrome

The Adams-Oliver syndrome (AOS) is a rare disorder characterized by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects. It may be accompanied by orofacial and cardiac malformations 6. Associations polymicrogyria: may be associated with a...

Type II collagenopathy

Type II collagenopathies are a group of conditions collectively characterized by abnormalities in synthesis of collagen type II. This usually occurs due to a mutation in the COL2A1 gene. Entities that fall under this group include: achondrogenesis type II platyspondylic lethal skeletal dyspla...

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