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1,153 results found

Biliary atresia

Biliary atresia (BA) is a congenital biliary disorder, which is characterized by an absence or severe deficiency of the extrahepatic biliary tree. It is one of the most common causes of neonatal cholestasis, often causing cirrhosis immediately and leading to death and accounts for over half of c...

Biotin deficiency

Biotin deficiency is very rare. Biotin is a vitamin which acts as an enzymatic cofactor with a key role in energy production and the synthesis of fats. Biotin is present in a diverse range of cereals, nuts, seeds and eggs. Hence, true deficiency is unusual. It has been observed in the following ...

Biotinidase deficiency

Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of biotin (vitamin B7), resulting in low levels of bioavailable biotin, and clinical biotin deficiency. Epidemiology Profound deficiency (<10% of normal level) is estima...

Birth defects linked to antithyroid drug treatment in pregnancy

Birth defects linked to antithyroid drug treatment in pregnancy have for a long time been known to exist. A recent Danish register-based cohort study has assessed the degree of association of antithyroid drugs (ATD), such as methimazole (MMI) / carbimazole (CMZ) and propylthiouracil (PTU), and t...

Birth fracture of the clavicle

Birth fractures of the clavicle occur in 0.5-1% of vaginal deliveries and are the most frequent birth-related fracture. They are most commonly seen following normal, uncomplicated births but there is recognized increased incidence with high birth weight babies, forceps delivery and shoulder dyst...

Birth trauma

Birth trauma relates to those conditions caused by both physical/mechanical and hypoxic injuries. Epidemiology Birth trauma occurs in ~5 per 1000 births 2. Risk factors asphyxia breech presentation shoulder dystocia instrument delivery macrosomia obstructed labor Pathology Etiology T...

Blalock-Taussig shunt

Blalock-Taussig shunt, also known as Blalock-Thomas-Taussig shunt, is a palliative procedure designed to increase pulmonary arterial blood flow in patients with right ventricular outflow tract obstruction (e.g. tetralogy of Fallot) or during initial staged repair of hypoplastic left heart syndro...

Blepharophimosis

Blepharophimosis is dysplasia of the eyelids, where there is horizontal shortening of palpebral fissure. It is often associated with ptosis. Blepharophimosis is a feature of Dubowitz syndrome and Smith Lemli Opitz syndrome. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is c...

Block vertebra

Block vertebra is a type of vertebral anomaly where there is a failure of separation of two or more adjacent vertebral bodies. It is an anatomic variant. Pathology In a block vertebra, there is partial or complete fusion of adjacent vertebral bodies. Associations hemivertebrae/absent vertebr...

Blood pressure

The blood pressure (BP) is defined as the force exerted by the circulating blood on the walls of the blood vessels. Fundamentally the blood pressure depends upon the interaction of: blood volume cardiac contractility compliance of the arterial walls Blood pressure is traditionally measured i...

Blount disease

Blount disease refers to a local disturbance of growth of the medial aspect of the proximal tibial metaphysis and/or epiphysis that results in tibia vara. The condition is commonly bilateral. Epidemiology There is no recognized inheritance pattern. Clinical presentation Clinically, the chi...

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...

Bochdalek hernia

A Bochdalek hernia (plural: hernias or herniae) is a form of congenital diaphragmatic hernia. They occur posteriorly and are due to a defect in the posterior attachment of the diaphragm when there is a failure of pleuroperitoneal membrane closure in utero. Retroperitoneal structures may prolapse...

Bochdalek hernia features (mnemonic)

A helpful mnemonic for remembering the features of a Bochdalek hernia is: 5 Bs Mnemonic B: Bochdalek B: big B: back and lateral, usually on the left side B: baby B: bad (associated with pulmonary hypoplasia) To remember the side in which a Bochdalek hernia more commonly occurs (and to co...

Body imaging

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

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 ...

Bone age (radiograph)

The bone age, hand and wrist PA is a commonly performed examination to determine the radiographic age of the patient via the assessment of growth centers Patient position patient is seated alongside the table the non-dominant hand is placed, palm down on the image receptor shoulder, elbow, a...

Bone within a bone appearance

Bone within a bone is a descriptive term applied to bones that appear to have another bone within them. There are numerous causes including: normal thoracic and lumbar vertebrae (neonates and infants) growth recovery lines (after infancy) cortical splitting and new periostitis sickle cell d...

Bone within a bone appearance (mnemonic)

A useful mnemonic to remember the possible etiologies of a bone within a bone appearance is: GHOST DRAGON Mnemonic G: growth arrest lines H: heavy metals, hypoparathyroidism, hypothyroidism O: osteopetrosis S: sickle cell anemia, scurvy, syphilis T: thalassemia, tuberculosis D: disease o...

Boot shaped heart

A 'boot-shaped' heart ("cœur en sabot" in French) is the description given to the appearance of the heart on plain film in some cases of Tetralogy of Fallot. It describes the appearances of an upturned cardiac apex due to right ventricular hypertrophy and a concave pulmonary arterial segment.

Borchardt's triad (gastric volvulus)

Borchardt's triad comprises of the classic three symptoms diagnostic of gastric volvulus 1: severe sudden epigastric pain intractable retching without vomiting inability to pass a nasogastric tube

Botryoid rhabdomyosarcoma

Botryoid rhabdomyosarcoma, also known as sarcoma botryoides, is a type of embryonal rhabdomyosarcoma and accounts for 5-10% of all rhabdomyosarcomas 6. Epidemiology It tends to occur in pediatric population, often between birth and 15 years of age 7. Pathology Rhabdomyosarcomas generally ha...

Bowing fracture

Bowing fractures are incomplete fractures of tubular long bones in pediatric patients (especially the radius and ulna) that often require no intervention and heal with remodelling. Epidemiology Bowing fractures are almost exclusively found in children. However, there have been several case rep...

Brachydactyly

Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx 2. Single or multiple b...

Brachydactyly type A1 (Farabee type)

Brachydactyly type A1, also known as Farabee type brachydactyly, is a subtype of brachydactyly. Clinical presentation The anomaly is characterized by hypoplasia or aplasia of middle phalanges of the second to fifth digits in hands and feet and proximal phalanges of the thumbs and great toes...

Bracket sign (pericallosal lipoma)

The bracket sign refers to a radiographic appearance seen with the tubulonodular variety of pericallosal lipoma. It reflects calcification seen at the periphery of the midline lipoma. It is best seen on coronal imaging and historically was identified on frontal radiographs. It should not be con...

Brainstem glioma

Brainstem gliomas consist of a heterogeneous group which vary greatly in histology and prognosis. Terminology It should be noted that if not otherwise specified the term brainstem glioma usually refers to the most common histology, the diffuse brainstem glioma, and in children is most likely a...

Brain tumors in infancy

Common brain tumors in infancy (i.e. under one year of age) are quite different from those of brain tumors in adulthood. Most are located in the supratentorial region (~65%) and they carry a poor prognosis. The frequency of these tumors varies according to studies, but the most common brain tum...

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses. Epidemiology More than 80 cases have been reported in the global literature since its f...

Branchio-otic syndrome

Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close name...

Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterized by: otic malformations can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment preauricular pits branchial fistulae and branchial cleft cysts renal malfo...

Brodie abscess

Brodie abscess is an intraosseous abscess related to a focus of subacute pyogenic osteomyelitis. Unfortunately, there is no reliable way radiographically to exclude a focus of osteomyelitis. It has a protean radiographic appearance and can occur at any location and in a patient of any age. It mi...

Bronchial atresia

Bronchial atresia is a developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus associated with hyperinflation of the distal lung. On imaging, it commonly presents as a proximal focal tubular shaped opacity radiating from the hilum associated with a dista...

Bronchogenic cyst

Bronchogenic cysts are congenital malformations of the bronchial tree (a type of bronchopulmonary foregut malformation). They can present as a mediastinal mass that may enlarge and cause local compression. It is also considered the commonest of foregut duplication cysts. Epidemiology Bronchoge...

Bronchopulmonary dysplasia

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premat...

Bronchopulmonary foregut malformation

Bronchopulmonary foregut malformation (BPFM) is a term that encompases: congenital pulmonary airways malformation (CPAM) pulmonary sequestration hybrid lesion foregut duplication cysts bronchogenic cyst neurenteric cyst enteric cyst Embryology They result from anomalous budding of the ...

Bucket handle fracture (disambiguation)

Bucket handle fracture may refer to: bucket handle fracture - non-accidental injury bucket handle fracture of the pelvis

Burkitt lymphoma

Burkitt lymphoma is an aggressive B-cell lymphoma predominantly affecting children. Epidemiology Burkitt lymphoma is the most common (40%) type of non-Hodgkin lymphoma in childhood. Median age is eight years with a male predominance (M:F = 4:1) 1. It is less common in adults, accounting for 1-...

Butterfly vertebra

Butterfly vertebra is a type of vertebral anomaly that results from the failure of fusion of the lateral halves of the vertebral body because of persistent notochordal tissue between them. Pathology Associations an anterior spina bifida, with or without an anterior meningocele can be part of...

Café au lait spots

Café au lait spots are a type of pigmented skin lesions which are classically described as being light brown in color. Conditions associated with them include: neurofibromatosis type 1 (NF1) Jaffe-Campanacci syndrome McCune-Albright syndrome: typically irregular which has been likened to t...

Caffey disease

Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...

Calcaneal apophysitis

Calcaneal apophysitis, also known as Sever disease, is the painful inflammation of the apophysis of the calcaneus. Epidemiology It typically presents in active young children and adolescents, especially those who enjoy jumping and running sports. Associations High plantar foot pressures are...

Callen MS-ADEM criteria

The Callen MS-ADEM criteria can be useful in differentiating between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) in children, as the first attack of immune-mediated demyelination is a frequent diagnostic challenge. Given the diagnostic challenge, several diagnostic c...

Calvarial thinning

Calvarial thinning can result from many causes. They include: osteogenesis imperfecta hypophosphatasia achondrogenesis Menkes syndrome craniofacial syndromes 1 Apert syndrome Crouzon syndrome Saethre-Chotzen syndrome Pfeiffer syndrome See also focal calvarial thinning calvarial thick...

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...

Canal of Nuck

The canal of Nuck is an abnormal patent pouch of parietal peritoneum extending anteriorly from the round ligament of the uterus into the labia majora through the inguinal ring into the inguinal canal. Incomplete obliteration of this canal is known as a patent processus vaginalis and can result i...

Canal of Nuck hernia

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

Canavan disease

Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterized by megalencephaly, severe mental and neurological deficits, and blindness. Epidemiology Canavan...

Capillary hemangioma of the orbit

Capillary hemangiomas of the orbit, also known as strawberry hemangiomas, on account of its coloring, or orbital infantile hemangiomas, are the most common orbital tumors of infancy, and unlike orbital cavernous hemangiomas, they are neoplasms rather than vascular malformations. Clinical presen...

Caput succedaneum

Caput succedaneum is a manifestation of birth trauma, and it consists of a subcutaneous serosanguineous fluid collection external to the galea aponeurosis in the newborn's scalp. The fluid collection is extra-periosteal. It may be imaged with ultrasound, CT, or MRI. Caput succedaneum results fr...

Cardiac rhabdomyoma

Cardiac rhabdomyomas are a type of benign myocardial tumor and are considered the most common fetal cardiac tumor. They have a strong association with tuberous sclerosis. Epidemiology Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumors in the pediatric populat...

Cardiovascular shunts

Cardiovascular (cardiac) shunts are abnormal connections between the pulmonary and systemic circulations. Most commonly they are the result of congenital heart disease. Pathology Blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. 'left-to-right shunt') or ...

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...

Caterpillar sign

The caterpillar sign is a radiological sign described in pyloric stenosis. It refers to the appearance of the stomach on an upper gastrointestinal radiographic series or plain abdominal radiograph 1,2. On these imaging modalities in a patient with pyloric stenosis, the stomach appears distended...

Catterall classification of Perthes disease

The Catterall classification of Perthes disease is based on radiographic appearances of the epiphysis and metaphysis visible in osteonecrosis of the femoral head: stage I bone absorption changes visible in the anterior aspect of the epiphysis of femoral head changes are visible best in frog l...

Caudal regression syndrome

Caudal regression syndrome represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The vast m...

Caudothalamic groove

The caudothalamic groove is an important landmark when performing neonatal cranial ultrasound. Gross anatomy As the name suggests, it is located between the caudate nucleus and thalamus, and is a shallow groove projecting from the floor of the lateral ventricle. It is approximately at the leve...

Celery stalk (disambiguation)

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

Cenani-Lenz syndactyly

Cenani-Lenz syndactyly (CLS) is a very syndrome primarily characterized by: syndactyly/oligodactly: syndactyly is often complete and gives a spoon hand type appearance radio-ulnar synostoses Pathology Genetics It carries an autosomal recessive inheritance. Etymology It was first described...

Central nervous system germinoma

Intracranial germinomas, also known as dysgerminomas or extra-gonadal seminomas, are a type of germ cell tumor and are predominantly seen in pediatric populations. They tend to occur in the midline, either at the pineal region (majority) or along the floor of the third ventricle/suprasellar regi...

Cephalohematoma

Cephalohematomas are traumatic subperiosteal hematomas of the skull that are usually caused by birth injury. They are bound between the periosteum and cranium, and therefore cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal hematoma, which can cross sutures. E...

Cephalopagus

Cephalopagus twins are a rare type of conjoined twins. They are fused from the vertex to the umbilicus. They share a common cranium with either one composite face or two faces on opposite sides of the conjoined head. The thoraces are fused with fusion of liver, heart and the upper gastrointesti...

Cerebellar agenesis

Cerebellar agenesis is a rare congenital abnormality which can result from failure to develop normal cerebellar tissue or destruction of normally developed tissue. For a more general overview of cerebellar malformations, please refer to the article on classification systems for malformations of...

Cerebellar hypoplasia

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

Cerebellar mutism syndrome

Cerebellar mutism syndrome usually develops after resection of midline cerebellar or intraventricular tumors in the posterior fossa. Typical features of this condition are transient mutism, ataxia, hypotonia and irritability. Terminology The nomenclature of this syndrome has considerable confu...

Cerebral hypoventilation syndrome

Cerebral hypoventilation syndrome refers to a congenital condition characterized by hypoventilation during sleep with no other abnormalities of cardio-respiratory system. There is a decrease in the depth of breathing . It is also known as Congenital central hypoventilation syndrome (CCHS) or On...

Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis. This leads to early cataract formation, atherosclerosis, hypercholesterolemia, and tendinous xanthomas. Clinical presentation Clinically ce...

Cervical adenitis

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

Cervical thymus

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

Cervix sign of pyloric stenosis

The cervix sign of pyloric stenosis describes indentation of the pylorus into the fluid-filled antrum, seen in pyloric stenosis on ultrasound examination. See also antral nipple sign target sign of pyloric stenosis

CHALICE rule

The Children’s Head injury ALgorithm for prediction of Clinically Important Events (CHALICE) clinical decision rule was developed to predict clinically important brain injuries in children with head trauma. This rule identifies high-risk criteria and divides them into history, examination and me...

CHARGE syndrome

CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders: C: coloboma H: heart defects (congenital heart disease) A: atresia (choanal) R: retardation of growth and development G: genital and/or urinary abnormalities E: e...

Chest radiograph (pediatric)

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

Chiari I malformation

Chiari I malformation is the most common variant of the Chiari malformations, and is characterized by a caudal descent of the cerebellar tonsils (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modality ...

Childhood malignancies

Unfortunately the pediatric population is susceptible to malignancies. The most common entities, in overall order of frequency, are 1-4: leukemia/lymphoma: ~35% * acute lymphoblastic leukemia: 23% Hodgkin disease: 5% acute myelogenous leukemia: 4% central nervous system malignancies: ~20% ...

CHILD syndrome

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome comprises: Ch: congenital hemidysplasia I: ichthyosiform erythroderma develops at or shortly after birth unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk 2 hair ...

Choanal atresia

Choanal atresia refers to a lack of formation of the choanal openings. It can be unilateral or bilateral. Epidemiology It frequently presents in neonates where it is one of the commonest causes of nasal obstruction in this age group. There is a recognized female predilection. The incidence is ...

Cholera

Cholera is an acute infective diarrheal illness caused by Vibrio cholerae. Severe cholera causes large volume liquid stools, which may rapidly lead to hypovolemic shock and death, unless intensive rehydration therapy is instituted. Prevention of cholera depends upon access to clean water and eff...

Chondroblastoma

Chondroblastomas, also referred as Codman tumors, are rare benign cartilaginous neoplasms that characteristically arise in the epiphysis or apophysis of a long bone in young patients. Despite being rare, they are one of the most frequently encountered benign epiphyseal neoplasms in skeletally im...

Chondrodysplasia punctata

Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature. Pathology Subtypes It can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic c...

Chondroectodermal dysplasia

Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5. Clinical spectrum Clinical features include: narrowing of thorax with short ribs small and flared ilia triradiate aceta...

Chondrolysis

Chondrolysis, also known as acute cartilage necrosis, represents acute cartilage destruction of the femoral head. It is one of the complications that are specifically associated with slipped capital femoral epiphysis (SCFE). It may also be associated with infection, specifically septic arthritis...

Choroid plexus papilloma

Choroid plexus papillomas are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumor which can occur in both the pediatric (more common) and adult population. On imaging, these tumors are usually identified in the fourth ventricle in adults and in the lateral ventricles in th...

Chrispin-Norman scoring system for cystic fibrosis

The Chrispin-Norman score is used to provide a summative assessment of structural lung changes in patients with cystic fibrosis on plain chest radiographs. It is useful to monitor disease progression or treatment response and can be used to compare between different patients in research studies...

Chromosomal anomalies

There are a large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies. They can cause a variable degree of disability with outcomes ranging from no effect (in some balanced tra...

Chronic hereditary lymphedema

Chronic hereditary lymphedema (also known as Milroy disease) is a condition characterized by lower limb lymphedema. Patients typically present with pedal edema at or before birth or soon after. Occasionally, it develops later in life. Pathology Genetics Mutations in the FLT4 gene are thought ...

Chronic hip subluxation

Chronic hip subluxation most common occurs in pediatric patients with neuromuscular disorders (e.g. cerebral palsy). It is considered a form of developmental hip dysplasia. Epidemiology Chronic hip subluxation occurs in ~45% of cerebral palsy patients who are not walking by 5 years of age 3. ...

Chronic recurrent multifocal osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection and neoplasia has been ruled out. However, there are some cases in which lesion location and mo...

Chronic suppurative lung disease

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

Ciliopathies

Ciliopathies refer to diseases due to malfunctioning cilia (singular: cilium). Cilia are organelles that are external extensions of the cell membrane. Cilia fall into two main types: primary (or immotile) cilia and motile cilia. Clinical presentation Primary cilia are found in virtually every...

Classification of proximal focal femoral deficiency

Classification of proximal femoral deficiency (PFFD) can be complicated and numerous such classifications have been proposed. For a discussion of the condition refer to the article proximal focal femoral deficiency. One of the simplest and most widely used is that proposed by Aitken 1 which is ...

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...

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...

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