Bent bone dysplasias are a class of dysplasia included in a 2010 classification of genetic skeletal disorders 1.
kyphomelic dysplasias, a diverse class, including
congenital bowing of the long bones
cartilage-hair hypoplasia (CHH; metaphyseal d...
Bernese periacetabular osteotomy, also known as Ganz osteotomy, is an orthopedic procedure involving osteotomy surrounding the acetabulum and subsequent angulation to improve coverage of the femoral head by the acetabulum. It is performed in the context of hip dysplasia. There is an osteotomy th...
The beta angle is a measurement used in the ultrasonographic assessment of developmental dysplasia of the hip (DDH).
It is defined as the angle formed between the vertical cortex of the ilium and the triangular labral fibrocartilage (echogenic triangle) and thus reflects the femoral head cartil...
Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic condition consisting of extensive bilateral perisylvian polymicrogyria.
As is the case with many areas of medicine transitioning from phenotypical to molecular/genetic definitions, it has been postulated what bilateral frontopari...
Bilateral thalamic gliomas are rare but characteristic low-grade astrocytomas that occur in both children and young adults.
Presentation may vary with age. Young children with bilateral thalamic glioma often have signs of increased intracranial pressure and movement disor...
Bile plug syndrome, also known as inspissated bile syndrome, is an uncommon cause of jaundice in neonates. Refers to a rare extrahepatic mechanical obstruction of the major bile duct in the perinatal period caused by viscous bile (sludge) within its lumen 3.
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 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 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.
Profound deficiency (<10% of normal level) is estima...
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 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 (a.k.a. birth injury) relates to those conditions caused by both physical/mechanical and hypoxic injuries.
Birth trauma occurs in ~5 per 1000 births 2.
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 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 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.
In a block vertebra, there is partial or complete fusion of adjacent vertebral bodies.
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:
compliance of the arterial walls
Blood pressure is traditionally measured i...
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.
There is no recognized inheritance pattern.
Clinically, the chi...
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 hernias , also known as pleuroperitoneal hernias, (alternative plural: herniae) are the commonest type 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 cl...
A helpful mnemonic for remembering the features of a Bochdalek hernia is:
B: back and lateral, usually on the left side
B: bad (associated with pulmonary hypoplasia)
To remember the side in which a Bochdalek hernia more commonly occurs (and to co...
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 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 ...
The bone age radiograph of the hand and wrist is a commonly performed examination to determine the radiographic age of the patient via the assessment of growth centers.
Bone age radiographs may be indicated for both clinical and non-clinical purposes 6,7:
for the investigation of
Bone within a bone is a descriptive term applied to bones that appear to have another bone within them. There are numerous causes including:
thoracic and lumbar vertebrae (neonates and infants)
growth recovery lines (after infancy)
cortical splitting and new periostitis
sickle cell d...
A useful mnemonic to remember the possible etiologies of a bone within a bone appearance is:
G: growth arrest lines
H: heavy metals, hypoparathyroidism, hypothyroidism
S: sickle cell anemia, scurvy, syphilis
T: thalassemia, tuberculosis
D: disease o...
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 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, also known as sarcoma botryoides, is a type of embryonal rhabdomyosarcoma and accounts for 5-10% of all rhabdomyosarcomas 6.
It tends to occur in pediatric population, often between birth and 15 years of age 7.
Rhabdomyosarcomas generally ha...
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 remodeling.
Bowing fractures are almost exclusively found in children. However, there have been several case repo...
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 bo...
Brachydactyly type A1, also known as Farabee type brachydactyly, is a subtype of brachydactyly.
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...
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 gliomas consist of a heterogeneous group which vary greatly in histology and prognosis.
Unless otherwise specified the term brainstem glioma usually refers to the most common histology, the diffuse brainstem glioma, and in children this is most likely a diffuse midline gl...
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 (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses.
More than 80 cases have been reported in the global literature since its f...
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 (BOR) dysplasia, syndrome, or spectrum disorder is a rare syndromic disorder characterized by cervical branchial apparatus anomalies, ear malformations, and renal anomalies. If there are no renal anomalies, then it is more likely to be branchiootic dysplasia.
Brodie abscess is an intraosseous abscess related to a focus of subacute or chronic pyogenic osteomyelitis. Unfortunately, there is no reliable way to radiographically exclude a focus of osteomyelitis. It has a protean radiographic appearance and can occur at any location and in a patient of any...
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 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.
Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation.
BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premat...
Bronchopulmonary foregut malformation (BPFM) is a term that encompases:
congenital pulmonary airways malformation (CPAM)
foregut duplication cysts
They result from anomalous budding of the ...
Bucket handle fracture may refer to:
bucket handle fracture - non-accidental injury
bucket handle fracture of the pelvis
Burkitt lymphoma is an aggressive B-cell lymphoma predominantly affecting children.
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-...
Abdominal manifestations of Burkitt lymphoma occur in the non-pandemic variant of Burkitt lymphoma. For a general discussion of Burkitt lymphoma, and for links to other system specific manifestations, please refer to Burkitt lymphoma.
Whenever Burkitt lymphoma presents, it is predominantly an e...
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.
anterior spina bifida +/- anterior meningocele
can be part of the Alagille syndr...
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)
McCune-Albright syndrome: typically irregular which has been likened to t...
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, also known as Sever disease, is the painful inflammation of the apophysis of the calcaneus.
It typically presents in active young children and adolescents, especially those who enjoy jumping and running sports.
High plantar foot pressures are...
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 can result from many causes. They include:
craniofacial syndromes 1
focal calvarial thinning
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
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 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, 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.
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.
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 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.
Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumors in the pediatric populat...
Cardiovascular (cardiac) shunts are abnormal connections between the pulmonary and systemic circulations. Most commonly they are the result of congenital heart disease.
Blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. 'left-to-right shunt') or ...
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...
CASK related disorders are caused by mutations of the CASK gene and have a wide phenotypic spectrum, with a typically more disabling phenotype in females.
In males there may be mental retardation and congenital nystagmus. In females there may be only mental retardation, ...
Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
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...
The Catterall classification of Perthes disease is based on radiographic appearances of the epiphysis and metaphysis visible in osteonecrosis of the femoral head:
bone absorption changes visible in the anterior aspect of the epiphysis of femoral head
changes are visible best in frog l...
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.
Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10.
The vast m...
The caudothalamic groove is an important landmark when performing neonatal cranial ultrasound.
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 level...
Celery stalk appearance can refer to the following:
celery stalk anterior cruciate ligament
celery stalk metaphysis
Cenani-Lenz syndactyly (CLS) is a very syndrome primarily characterized by:
syndactyly/oligodactly: syndactyly is often complete and gives a spoon hand type appearance
It carries an autosomal recessive inheritance.
It was first described...
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...
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.
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 gastrointest...
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 clefts are rare congenital abnormalities of the posterior fossa, where cerebellar grey matter extends from the surface into the parenchyma, in some cases even reaching the fourth ventricle.
Language and speech disorders, cognitive impairment, truncal ataxia, o...
Cerebellar hypoplasia is a type of congenital morphological cerebellar abnormality in which the cerebellum has reduced volume, but a normal shape, and is stable over time 1,4. The pattern of volume loss may be regional (affecting only part of the cerebellum) or global.
Cerebellar mutism syndrome, also known as post-operative pediatric cerebellar mutism syndrome (pCMS), usually develops after resection of midline cerebellar or intraventricular tumors in the posterior cranial fossa. Typical features of this condition are transient mutism, ataxia, hypotonia and i...
Cerebral hypoventilation syndrome refers to a congenital condition characterized by hypoventilation during sleep with no other abnormalities of the cardiorespiratory system. There is a decrease in the depth of breathing.
It is also known as central sleep apnea, congenital central hypoventilatio...
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.
Cervical adenitis refers to the inflammation of lymph nodes in the neck.
Most common cause of a pediatric neck mass following non-specific infectious/inflammatory insults.
In the pediatric population, a child will present with a painful cervical mass.
The cervical thymus (plural: cervical thymi) refers to an ectopic location of the thymus in the neck above the level of the brachiocephalic veins.
A cervical thymus usually presents before adolescence as a painless unilateral midline or lateral neck mass.
The cervix sign of pyloric stenosis describes the indentation of the pylorus into the fluid-filled antrum, seen in pyloric stenosis on ultrasound examination.
antral nipple sign (pyloric stenosis)
target sign (pyloric stenosis)
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 is an acronym that classically describes a combination of head and neck, cardiac, CNS and genitourinary disorders:
H: heart defects (congenital heart disease)
A: atresia (choanal)
R: retardation of growth and development
G: genital and/or urinary abnormalities
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 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 o...
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 (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
Choanal atresia refers to a lack of formation of the choanal openings. It can be unilateral or bilateral.
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 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...
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 (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.
It can be broadly divided into rhizomelic and non-rhizomelic forms:
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 features include:
narrowing of thorax with short ribs
small and flared ilia
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...
Chondromesenchymal hamartomas are rare, benign, tumor-like nasal masses in children that have been associated with DICER1 mutations.
The entity is rare: a systematic review of the literature in 2015 identified fewer than 50 reported cases 2. The mean age of presentation is 10 year...