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Haystack sign (pneumomediastinum)

The haystack sign on chest radiographs in pediatric patients is indicative of pneumomediastinum. The pediatric heart is surrounded above and below with gas, giving it an appearance of a haystack from Monet's paintings.

Head ultrasound

Head ultrasound (HUS), also called cranial ultrasound (CUS), is obtained for the diagnosis and follow-up of premature and sick neonates. Advantages Head ultrasound has the advantages of: accessibility mobility, i.e. bedside scanning at the NICU and neonatal ward requiring no sedation enabl...

Heavy charged particle therapy

Heavy charged particle therapy (also known as heavy ion radiotherapy) is a type of particle therapy that uses ionized atoms (e.g. neon, argon, silicon, carbon etc.). Currently carbon ions are most commonly employed, termed carbon ion radiotherapy (CIRT). It is a technically-demanding technique ...

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

Hemiconvulsion-hemiplegia epilepsy syndrome

Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy. It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...

Hemihyperplasia

Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...

Hemimegalencephaly

Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth of all or part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2. Epidemiology Hemimegalencephaly is a cryptoge...

Hemimelia

Hemimelia is the term used to describe a partial or complete congenital absence of the distal half of a limb. It comprises of: fibular hemimelia tibial hemimelia ulna hemimelia radial hemimelia

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...

Hepatic teratoma

Hepatic teratomas are extremely rare and represent either intraperitoneal or retroperitoneal teratomas that have invaded the liver. Hepatic teratomas comprise <1% of all teratomas. Epidemiology These are extremely rare with only a few case reports have been described in the literature. The ma...

Hepatoblastoma

Hepatoblastoma is the most common primary malignant liver tumor in children under four years of age who usually present with painless abdominal mass and raised AFP. It is tumor of embryonic origin. Epidemiology Most cases are seen during the first 18 months of life and diagnosis in adulthood i...

Hepatoblastoma histological classification

Although hepatoblastomas can be histologically classified into a variety of subtypes, it is important to remember that with the possible exception of small cell undifferentiated subtype, prognosis is independent of histology when adjusted for stage gender and age 1. major categories epithelial...

Hepatoblastoma (staging)

As expected there are a number of different staging systems for hepatoblastoma. Staging PRETEXT grouping system of pediatric liver tumors not specific to hepatoblastoma; used in all pediatric liver tumors Intergroup staging system specific for hepatoblastoma (see below) Intergroup staging ...

Hepatosplenomegaly

Hepatosplenomegaly is simply the simultaneous presence of a pathologically-enlarged liver (hepatomegaly) and spleen (splenomegaly). Pathology Etiology Infection Many, many infections can produce a mild concurrent enlargement of the liver and spleen. This list is by no means exhaustive! vira...

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...

Hereditary connective tissue disease

Hereditary connective tissue diseases are an enlarging group of connective tissue diseases that have a degree of inheritance risk. They include: Marfan syndrome: genetic disease causing abnormal fibrillin Ehlers-Danlos syndrome: progressive deterioration of collagen and affects joints, heart ...

Hereditary hyperphosphatasia

Hereditary hyperphosphatasia, also known as juvenile Paget disease, is an autosomal recessive osteopathy due to osteoprotegerin deficiency which has a similar clinicoradiological presentation to adult Paget disease of bone. Terminology The term "hyperphosphatasia" has been used to describe a h...

Hereditary multiple exostoses

Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomp...

Hereditary spherocytosis

Hereditary spherocytosis (HS) (also known as Minkowski-Chauffard disease 1) is a group of hemolytic anemias due to a genetic abnormality of the erythrocyte cell membrane resulting in spherocytes. The clinical spectrum is broad, from a subclinical state to severe transfusion-dependent anemia. Ep...

Hernia (general)

Hernias (or herniae) are a common pathological entity, in which an anatomical structure passes into an abnormal location via an opening. The opening may be a normal physiological aperture (e.g. hiatus hernia: stomach passes through the diaphragmatic esophageal hiatus) or pathological. Iatrogeni...

Herpes simplex encephalitis

Herpes simplex (HSV) encephalitis is the most common cause of fatal sporadic fulminant necrotizing viral encephalitis and has characteristic imaging findings. Two subtypes are recognized which differ in demographics, virus, and pattern of involvement. They are 1: neonatal herpes encephalitis ...

Heterotaxy syndrome

Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left-right distribution of the thoracic and abdominal organs that does not entirely correspond to the complete mirror image (situs inversus). It occurs...

Hiccups

Hiccups (or hiccoughs), medical term singultus (rarely used), are an unpleasant phenomenon, experienced by everyone on occasion, and usually self-limiting. However the much rarer intractable chronic form can be extremely debilitating. Epidemiology Hiccups are a symptom that has probably been e...

Hilgenreiner line

The Hilgenreiner line is a line drawn horizontally through the inferior aspect of both triradiate cartilages. It should be horizontal but is mainly used as a reference for the Perkin line and measurement of the acetabular angle. This line with the other lines and angles are used in the diagnosi...

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...

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). ...

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.

Hip series

The hip series is comprised of an anteroposterior (AP) and lateral radiograph of the hip joint. The series is requested for a myriad of reasons from trauma to atraumatic hip pain. Indications Hip radiographs are performed for a variety of indications including 1-3: trauma hip pain abnormal...

Hip (Von Rosen view)

The Von Rosen view also known as the abduction-internal rotation view (AIR view) is a radiographic projection of the hip that demonstrates the relationship between the femoral head and the acetabulum. Indications The von Rosen view is used in the diagnosis of developmental dysplasia of the hip...

Hirschsprung disease

Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys. Epidemiology Hirschsprung disease affects approximately 1:5000-8000 live births. In short ...

Hoffa fat pad herniation

Hoffa fat pad herniation is defined as herniation of infrapatellar fat through a defect in the lateral retinaculum. It is an uncommon cause of an anterolateral knee mass often detected at the fully flexed knee 1. Clinical presentation Mainly occurs in preschool-aged and young children as a pai...

Holoprosencephaly

Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from incomplete separation of the two hemispheres. Classically three subtypes have been recognized, however additional entities are now included in the spectrum of the disease. The three main subtypes, in order of decreas...

Homocystinuria

Homocystinuria is a rare congenital disorder of metabolism. Clinical presentation The disease may affect one or more of the systems below 1,2: eye: ectopia lentis CNS: seizures, dystonia, developmental delay skeletal: scoliosis, pectus excavatum, long limbs vascular: thromboembolism Path...

Hopkins syndrome

Hopkins syndrome is a rare poliomyelitis-like neurological syndrome that occurs following an episode of acute asthma. Clinical presentation It usually manifests as flaccid paralysis of one or more limbs, several days or weeks following an episode of acute asthma. Pathology The pathogenesis i...

Humeral condyle fracture

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

Hunka classification of neonatal septic arthritis of the hip

Type I: Absent or minimal femoral head changes. Type II: A: deformity of the femoral head with intact physis. B: deformity of the femoral head with premature physeal closure. Type III: Pseudarthrosis of the femoral neck. Type IV: A:Complete destruction of the capital femoral epiphysis wit...

Hunter syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1. Epidemiology Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...

Hutchinson syndrome

Hutchinson syndrome is a seldom-used term to denote a syndromic presentation of children with skeletal metastases from neuroblastoma. Terminology Unfortunately, there is a lack of consensus in the definition with two descriptions most commonly encountered in the literature: limping and irrita...

Hybrid lesion (pediatric chest)

A hybrid lesion in pediatric chest radiology refers to a combination of a congenital pulmonary airways malformation (CPAM) and a pulmonary sequestration (most commonly extralobar). It falls under a type of bronchopulmonary foregut malformation. Due to more sophisticated imaging, they are increas...

Hydranencephaly

Hydranencephaly is a rare encephalopathy that occurs in-utero. It is characterized by destruction of the cerebral hemispheres which are transformed into a membranous sac containing cerebrospinal fluid and the remnants of cortex and white matter 1. Porencephaly is considered a less severe degree...

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...

Hydrocele of the canal of Nuck

Hydrocele of the canal of Nuck is a rare condition in female children caused by a failure of complete obliteration of the canal of Nuck 1. The canal of Nuck is an abnormal patent pouch of peritoneum extending anterior to the round ligament of the uterus into the labia majora 2. Incomplete oblite...

Hydronephrosis (grading)

Grading systems of hydronephrosis have been devised to communicate the degree of upper collecting system dilatation. The most common system used (Society of Fetal Urology, SFU) was originally designed for grading neonatal and infant hydronephrosis: grade 0 no dilatation, calyceal walls are app...

Hypermobile lateral meniscus

The hypermobile lateral meniscus (HLM) is one of the causes of lateral knee pain and a locking sensation. In children the cause tends to be due to congenital absence of posterior capsular attachments, whilst in adults it is more likely traumatic. Epidemiology There is a bimodal age distributi...

Hyperpyrexia

Hyperpyrexia is a term reserved for very high fevers and is usually only deemed to be present when the core body temperature is >41.5°C 1,2. Clinical presentation Very high fevers appear to be markedly deleterious for cognitive wellbeing, patients often being delirious and mentally impaired wi...

Hypertrophic pyloric stenosis (ultrasound measurements mnemonic)

Hypertrophic pyloric stenosis can be characterized on ultrasound by the measurements of the hypertrophic muscle. Although the criteria can vary from publication to publication, an easy way to keep in mind the values is using a mnemonic which relies upon remembering the first digits of the number...

Hyperuricemia

Hyperuricemia is defined as elevated levels of uric acid (≥7 mg/dL) in the blood and may be caused by either urate overproduction or underexcretion. Clinical presentation Patients with hyperuricemia may be asymptomatic or have symptoms and signs relating to one of the complications of hyperuri...

Hypervitaminosis A

Hypervitaminosis A results from an excess of vitamin A. It usually manifests in children, and one recognized cause is administration from 13-cis retinoic acid for treatment of cancers such as neuroblastoma. Clinical presentation Manifestations can differ depending on whether it is an acute or ...

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare neurodegenerative hypomyelinating disease of infancy and childhood. Epidemiology Due to the small number of reported cases, detailed epidemiological data is unavailable. The age of onset is usually within the f...

Hypophosphatasia

Hypophosphatasia refers to a rare metabolic disorder characterized by deficient serum alkaline phosphatase activity. The effects of hypophosphatasia are primarily seen in the skeletal system. The condition has marked variation in clinical expression (see subtypes). Epidemiology The true incide...

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...

Hypoplastic right heart syndrome

Hypoplastic right heart syndrome is a congenital cardiac anomaly. It is characterized by an underdeveloped right side of the heart, including the right ventricle, tricuspid valve, pulmonary valve, and pulmonary arteries. Epidemiology It may be present in around 1.1% of stillbirths and is rarer...

Hypospadias

Hypospadias refers to a type of congenital malformation affecting the male external genitalia. Epidemiology The estimated prevalence is ~2 (range 0.2-4.1) per 1000 live births. Pathology The urethral meatus is abnormally positioned proximally and ventrally to its normal position. It is thou...

Hypovitaminosis A

Hypovitaminosis A results from inadequate intake of vitamin A, fat malabsorption, or liver disorders and produces a variety of epithelial alterations. Epidemiology The World Health Organization currently estimates that 45-122 countries have a vitamin A deficiency of public health significance ...

Hypovitaminosis C (scurvy)

Scurvy is a condition caused by a dietary lack of vitamin C (ascorbic acid), hence is also called hypovitaminosis C, and is characterized by an increased bleeding tendency and impaired collagen synthesis resulting in osteoporosis and impaired wound healing. Epidemiology Scurvy in adults is rar...

Hypovitaminosis E

Hypovitaminosis E is well-recognized but rare. It is usually due to the malabsorption of vitamin E, e.g. cystic fibrosis or pancreatic failure. It manifests as dysfunction of the CNS, characteristically presenting with a tremor and ataxia. Tendon reflexes are often absent. Clinically and radiol...

IgA vasculitis

IgA vasculitis (formerly known as Henoch-Schonlein purpura (HSP)) is a type of non-thrombocytopenic immune-mediated small vessel acute leukocytoclastic vasculitis. In order to differentiate from other types of vasculitides, the four commonly adopted diagnostic criteria by the American College o...

Ileal atresia

Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities. This article will focus on ileal atresia alone but bear in mind that some cases correspond to jej...

Imperforate hymen

Imperforate hymen is a congenital condition in which the hymen lacks a normal opening. Epidemiology It happens in 0.1% of the female population, usually an isolated finding. Clinical presentation Primary amenorrhea with cyclic lower abdominal pain during menarche age. An imperforate hymen c...

Incarcerated

Incarcerated (also referred to as irreducible) is used to describe herniae, in which their contents are unable to pass back through the hernial opening to their anatomical site of origin. Incarceration is a risk factor for bowel obstruction and strangulation, and therefore usually necessitates...

Inclusion body fibromatosis

Inclusion body fibromatosis is a superficial benign myofibroblastic tumor characterized by eosinophilic intracytoplasmatic inclusions, which is typically seen in infancy and features a propensity for local recurrence. Terminology Acceptable alternative terms include infantile digital fibroma o...

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...

Incomplete hippocampal inversion

Incomplete hippocampal inversion describes the situation where the normal inversion of the hippocampus fails to happen during development. Terminology Incomplete hippocampal inversion is the most correct description of this finding. Hippocampal malrotation is a term used by some authors 1 alth...

Increased bone age

A generalized acceleration in bone maturation can result from a number of etiological factors. They include: endocrine disorders idiopathic isosexual precocious puberty hypothalamic or parathalamic lesion with sexual precocity: e.g. craniopharyngioma astrocytoma hypothalamic hamartoma hyp...

Infantile cervical ligament edema

Infantile cervical ligament edema can typically be seen when infants have suffered accidental or abusive head and neck trauma. The finding is best seen on sagittal STIR images. Terminology The posterior ligamentous complex refers to the ligamentum flavum and interspinous ligaments. The anterio...

Infantile fibrosarcoma

Infantile fibrosarcomas are locally aggressive rarely metastasizing fibroblastic tumors found in the pediatric population. Terminology Other acceptable terms include congenital fibrosarcoma, infantile fibrosarcoma-like tumor, cellular congenital mesoblastic nephroma 1. Epidemiology Infantile...

Infantile fibrosarcoma of the lung

Infantile fibrosarcoma of the lung, also known as primary bronchopulmonary fibrosarcoma, is a very rare spindle-cell tumor. Epidemiology More than 80% of cases are reported to occur within the 1st year of life. There is a slight predominance in male infants 1,2. Clinical presentation Patient...

Infantile hemangioma

Infantile hemangiomas are benign vascular neoplasms that are the most common head and neck tumors of infancy. They can occur virtually anywhere, but the majority are found in the head and neck regions. This article aims to be a generic discussion of the condition, for detailed and more specific...

Infantile hepatic hemangioma

Infantile hepatic hemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid hemangioendothelioma, which occurs in older patients. Terminology These benign tumors were previously referred t...

Infectious mononucleosis

Infectious mononucleosis (also known as glandular fever) is the term for infection with Epstein-Barr virus (EBV). The infection classically occurs in teenagers and young adults, hence its other name kissing disease. It is usually a clinical diagnosis, with confirmation by serum testing, but may ...

Ingested foreign bodies in children

Ingested foreign bodies in children are common as the world is a curious place to young children, who will put anything and everything into their mouth, and will often inadvertently swallow. The usual practice is for plain films of the chest and/or abdomen to identify a foreign body. Epidemio...

Inguinal lymph nodes

The inguinal lymph nodes (often shortened to the inguinal nodes) are a major group of lymph nodes in the lymphatic system. They are the major drainage pathway of the lower limbs, genitals, dorsal perineum and the inferior most aspect of the anterior abdominal wall. Inguinal lymph nodes larger th...

Innominate artery compression syndrome

Innominate artery compression syndrome, also known as brachiocephalic artery compression syndrome, is a rare cause of tracheal stenosis that occurs in the pediatric population. Radiographic features The brachiocephalic artery usually takes its origin to the left of the trachea. The artery subs...

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...

Interrupted aortic arch

Interrupted aortic arch (IAA) is an uncommon congenital cardiovascular anomaly where there is a separation between the ascending and descending aorta. It can either be complete or connected by a remnant fibrous band. An accompanying large ventricular septal defect (VSD) and/or patent ductus arte...

Intestinal failure

Intestinal failure is when a patient's native bowel is unable to digest and absorb the food, electrolytes, and fluids needed for normal growth and development. Clinical presentation This often includes intractable diarrhea, weight loss, dehydration, electrolyte imbalance, and malnutrition. P...

Intestinal malrotation

Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. Although some individuals live their entire life with malrotated bowel without symptoms, the abnormality does predispose to mid...

Intestinal nonrotation

Intestinal nonrotation is a congenital anomaly of the intestines that results in the small bowel occupying the right side of the peritoneal cavity and the colon predominantly on the left. It is sometimes thought of as a subtype of intestinal malrotation. Epidemiology Nonrotation is estimated ...

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 ...

Intracranial cystic lesions in the perinatal period

Intracranial cystic lesions in the perinatal period can carry a relatively wide differential which includes: Supratentorial cystic lesions cysts arachnoid cyst choroid plexus cyst connatal cyst holoprosencephaly multicystic encephalomalacia periventricular leukomalacia porencephalic cys...

Intracranial teratoma

Intracranial teratomas are uncommon intracranial neoplasms, which can have a bewildering variety of components and thus a wide range of appearances. They can be divided into two broad categories, intra- and extra-axial, which differ in epidemiology and clinical presentation. Another method of cl...

Intramembranous ossification

Intramembranous ossification describes the process of ossification from mesenchymal cells (stem cells) without a cartilaginous template and is involved in the healing process of fractures. The stages of intramembranous ossification osteogenesis are as follows: mesenchymal cells differentiate in...

Intraventricular hemorrhage of the newborn

Intraventricular hemorrhage of the newborn is a distinct entity and considered separately from intraventricular hemorrhage (IVH) in adults. In neonates, IVH is the result of germinal matrix hemorrhage, which ruptures through the ependymal lining and into the lateral ventricles. Other causes of...

Intussusception

Intussusception occurs when one segment of bowel is pulled into itself or a neighboring loop of the bowel by peristalsis. It is an important cause of an acute abdomen in children and merits timely ultrasound examination and reduction to preclude significant sequelae including bowel necrosis. Whe...

Intussusception reduction

Intussusception reduction is a procedure performed in pediatric patients who have an ileocolic intussusception. There are several ways that reduction can be achieved radiologically: air-reduction under fluoroscopic guidance hydrostatic-reduction under fluoroscopic guidance physical reduction...

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 ...

Isolated greater trochanteric fracture

Greater trochanteric fractures generally result from forceful muscle contraction of a fixed limb, which usually occurs in those who are young and physically active. It can also be caused by direct trauma. Epidemiology Generally, isolated trochanteric fractures are seen more so in young, active...

Isolated inferior vermian hypoplasia

Isolated inferior vermian hypoplasia (IIVH), also referred as part of Dandy-Walker variant (DWV), is a congenital malformation characterized by partial absence of the inferior portion of the cerebellar vermis. Terminology The term Dandy-Walker variant was created to include those malformations...

Isomerism

Isomerism is a term which in general means 'mirror-image' and refers to finding normally-asymmetric bilateral structures to be similar. It is used in the context of heterotaxy and is of two types: left isomerism right isomerism Left isomerism Mirror image of the structures on the left side o...

Jacobsen syndrome

Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...

Jarcho-Levin syndrome

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...

Jejunal atresia

Jejunal atresia is a congenital anomaly characterized by obliteration of the lumen of the jejunum. The site of the atresia can be anywhere from the ligament of Treitz to the jejunoileal junction. There can be more than one atretic segment. This article will focus on jejunal atresia alone but be...

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