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1,376 results found

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 that 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 neona...

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: abnor...

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...

Kniest dysplasia

Kniest dysplasia is rare type of short limbed skeletal dysplasia. Pathology Genetics It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, which encodes for type II collagen (therefore clas...

Pulled elbow syndrome

Pulled elbow (also known as nursemaid's elbow) is a subluxation of the radial head into the annular ligament, which usually spontaneously or easily reduces and rarely demonstrates abnormal radiographic features. If the clinical presentation is atypical, pulled elbow should be distinguished from ...

Radial head dislocation

Radial head dislocation occurs when the radial head is displaced from its normal articulation with the ulna and the humerus. The dislocation may be acquired or congenital (see the separate article on congenital radial head dislocation). Additionally, radial head dislocation should be distinguis...

Sunset eye sign

The sunset eye sign (also known as the setting sun phenomenon) is a clinical phenomenon encountered in infants and young children with raised intracranial pressure (seen in up to 40% of children with obstructive hydrocephalus and 13% of children with shunt dysfunction 1). It consists of an up-...

Congenital granular cell myoblastoma

A congenital granular cell myoblastoma (also known as congenital epulis) is a very rare benign tumor which classically presents in the fetal-neonatal population. Epidemiology It occurs almost exclusively in females when it presents in the fetal-neonatal population although no such predilection...

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 ...

Branchio-oto-renal dysplasia

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. Pathology When ...

Barth syndrome

Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy. Epidemiology Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births. Clinical presentation It is characte...

Conotruncal cardiac anomalies

Conotruncal heart defects are a group of congenital cardiovascular anomalies involving the outflow tracts and great vessels. They are a leading cause of symptomatic cyanotic cardiac disease diagnosed in utero. Epidemiology They may account for up to a fifth of all congenital cardiac anomalies ...

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...

Bell clapper deformity

A bell clapper deformity is a predisposing factor in testicular torsion in which the tunica vaginalis has an abnormally high attachment to the spermatic cord, leaving the testis free to rotate. Bell clapper deformity predisposes to intravaginal torsion of the testis. It is best defined as the c...

Thalassemia

Thalassemia is an autosomal recessive hemoglobinopathy that originated in the Mediterranean region. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal hemoglobin molecules. The resultant microcytic anemia is the characteristic prese...

Thymic hyperplasia

Thymic hyperplasia is a disorder whereby there is hyperplasia of the thymus. Pathology Thymic hyperplasia can be subdivided into two forms: true thymic hyperplasia lymphoid thymic hyperplasia Both true thymic hyperplasia and lymphoid hyperplasia manifest as diffuse symmetric enlargement of...

Torsion of the appendix testis

Torsion of the appendix testis (occasionally called torsion of the hydatid of Morgagni) is the most common cause of an acute painful hemiscrotum in a child. The appendix testis is located at the upper pole of the testis (between the testis and the head of the epididymis). The normal appendix te...

Tight filum terminale syndrome

Tight filum terminale syndrome, or tight filum syndrome, is a subtype of the tethered cord syndrome that is attributed to a thick, short, and/or otherwise inelastic filum terminale rather than other tethering agents. Terminology The term "tight filum terminale syndrome" is synonymous with "tet...

Tracheal stenosis

Tracheal stenosis is usually acquired following intubation or tracheostomy. It can also arise as part of the spectrum of tracheobronchial stenosis. Pathology Inflammation and pressure necrosis of the tracheal mucosa most commonly occur at either the tracheostomy stoma or at the level of the tu...

Weaver syndrome

Weaver syndrome (WS) is a rare congenital disorder. Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long philtrum micrognathia large ears h...

Marshall-Smith syndrome

Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum. Clinical presentation general fetal macrosomia failure to thrive skelet...

Postaxial polydactyly

Postaxial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th (little) toe. Epidemiology Postaxial polydactyly is more common than preaxial polydactyly, with an estimated incidence of 1 in 3000 5. Associations Postaxial polyd...

Transient intussusception

Transient (non-obstructing) intussusception without a lead point is known to occur in both adults and children and occurs more frequently than was previously reported. Most commonly, transient intussusception in adults is idiopathic, incidental, and of no clinical consequence 4. Uncommonly, tra...

Thalidomide embryopathy

Thalidomide embryopathy refers to a syndrome resulting from in utero exposure to thalidomide, and is characterized by multiple fetal anomalies. Fetal exposure to thalidomide occurred primarily from 1957 to 1961, when it was used as a treatment for nausea in pregnant women. Epidemiology Expos...

Platyspondyly

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

Frontal bossing

Frontal bossing is a calvarial radiographic feature where the front of the skull appears protruding anteriorly. It is best appreciated on a sagittal or lateral image. Pathology This feature can be seen in many conditions (in alphabetical order): 18q syndrome acromegaly achondroplasia ß-tha...

Tc-99m pertechnetate

Tc-99m pertechnetate (Na+ 99mTc O4-) is one of the technetium radiopharmaceuticals used in imaging of thyroid, colon, bladder and stomach. Technetium (99mTc) has eight oxidation states 6, from -1 to +7; specifically, the oxidation state of technetium in the pertechnetate anion (99mTcO4-) is +7....

Congenital hypothyroidism

Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular etiology. Clinical presentation Most children are asymptomatic at birth and are diagnosed after screening. In untreated congeni...

Abdominoschisis

Abdominoschisis (plural: abdominoschises) refers to a split or defect in the abdominal wall. Some authors use the term synonymously with a gastroschisis. When the defect continues into the thoracic region it is termed a thoracoabdominoschisis. A large abdominoschisis is considered part of the li...

Diabetic embryopathy

Diabetic embryopathy refers to a spectrum of fetal anomalies that precipitate when the mother has background type I diabetes mellitus. The fetus may develop many of the fetal conditions associated with maternal diabetes although strictly speaking the anomalies should only include those that star...

Femur sparing intrauterine growth restriction

Femur sparing intrauterine growth restriction is considered by some authors as a particular type of intrauterine growth restriction (IUGR) 1. In this type, the femoral length is the only standard fetal biometric parameter unaffected while all others are reduced.

Transient abnormal myelopoiesis

Transient abnormal myelopoiesis (TAM) is a phenomenon that can happen in the fetuses or neonates with trisomy 21. The condition can mimic leukemia. Epidemiology The estimated incidence is at ~10% of newborns with trisomy 21 3. Radiographic features Antenatal ultrasound In the context of kno...

Juvenile granulosa cell tumor (ovary)

Juvenile granulosa cell tumors of the ovary (JGCT) are a less common subtype of granulosa cell tumor of the ovary (~5% of cases). They are classified as ovarian sex cord / stromal tumors. Epidemiology It typically occurs in premenarchal girls and young women. The mean age of presentation is 13...

True hermaphroditism

True hermaphroditism is a form of disorder of gender development. Pathology Patients with true hermaphroditism have mosaicism of 46XX and 46XY. They therefore have both ovarian and testicular tissues. Subtypes There are three forms of true hermaphroditism: unilateral true hermaphroditism ...

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system. Epidemiology Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...

SADDAN syndrome

SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies. Pathology Genetics The syndrome results from a mutation in ...

Transverse vaginal septum

Transverse vaginal (transvaginal) septum (TVS) is a type of rare congenital uterovaginal anomaly (class II under the Rock and Adam classification). Epidemiology It is rare with a frequency of 1 in 70,000 females. Clinical presentation In the case of a complete septum, patients commonly prese...

Dubowitz syndrome

Dubowitz syndrome (DS) is a rare genetic disorder with a wide clinical spectrum which includes: intrauterine growth restriction (IUGR) postnatal growth restriction microcephaly moderate intellectual disability characteristic facial anomalies telecanthus epicanthic folds blepharophimos...

Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, usually without an obstructing lesion (but not always). It is usually with associated bronchiectasis. Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lad...

Vaginal stenosis

Vaginal stenosis refers to a narrowing of the vagina, it can be congenital or acquired. Clinical presentation dyspareunia painful pelvic examination Complications retrograde menstruation Pathology Causes Acquired causes include: iatrogenic scarring from prior pelvic irradiation - brach...

Mesomelia

Mesomelia refers to a shortening of the middle (intermediate) portion of a limb. Pathology Associations mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses1 Ellis van-Creveld syndrome 2 Robinow syndrome See also rhizomelia

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...

Duane-radial ray syndrome

Duane-radial ray syndrome, also known as the Okihiro syndrome, is a rare an autosomal dominant condition characterized by radial ray defects and Duane syndrome (a form of strabismus with partial horizontal gaze palsy). Pathology Duane-radial ray syndrome is caused by a pathogenic mutation to S...

Van der Woude syndrome

Van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae/pits with cleft lip and/or palate. It is one of the most common clefting syndromes in humans 1 and affected individuals have a high prevalence of hypodontia. Pathology Genetics It carries an aut...

Greig cephalopolysyndactyly syndrome

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare pleiotropic, multiple congenital anomaly syndrome. It is primarily characterized by: polydactyly-polysyndactyly: preaxial polydactyly (most common 2) or mixed pre- and postaxial polydactyly true ocular hypertelorism macrocephaly fro...

Pallister Killian syndrome

Pallister-Killian syndrome (PKS) is an extremely rare chromosomal anomaly. Epidemiology It may be more prevalent in births from women of advanced age 4. Clinical presentation Phenotypic expression can significantly vary from multiple anomalies resulting in perinatal death to the more charact...

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. Epidemiology Associations congenital cardiac anomalies: may be present in up to ~50% of cases Clinical spectrum Clinica...

Chondrodysplasia punctata

Chondrodysplasia punctata 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 Chondrodysplasia punctate can be broadly divided into rhizomelic and non-rhizomelic for...

Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterized by the association of the following: growth retardation microcephaly cleft lip and palate minor vertebral and rib anomalies 4 horseshoe kidneys 4 thumb anomal...

Loeys-Dietz syndrome

Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder which has many features similar to Marfan syndrome. The disease is characterized by skeletal manifestations and vasculopathies. Although Loeys-Dietz syndrome shares many similarities with Marfan syndrome, the course is oft...

Occipital horn syndrome

Occipital horn syndrome, also known as X-linked cutis laxa or Ehlers Danlos type IX, is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. Menkes disease is the severe form of this disease, with patients rarely surviving past 3 years of age. Occipital hor...

Klinefelter syndrome

Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births. Clinical presentation the testes are normal prior to puberty and small in post pubertal te...

Spinal dysraphism

Spinal dysraphisms refer to a broad group of malformations affecting the spine and/or surrounding structures in the dorsum of the embryo. They are a form of neural tube defect. Pathology The neural tube is formed by the lengthwise closure of the neural plate, in the dorsum of the embryo. The ...

Gonadal dysgenesis

Gonadal dysgenesis refers to a spectrum of anomalies with abnormal development of the gonads. It falls under the even broader group of disorders of gender development. Pathology In many cases, the gonads are replaced by fibrous tissue. Subtypes complete gonadal dysgenesis (CGD) / Swyer syndr...

Atresia

Atresia (plural: atresias) refers to a situation where there is absence, underdevelopment or abnormal closure, of a normal anatomical tubular structure or opening. Contrast this with agenesis which refers to the complete absence of any anatomical structure including its primordial precursors. ...

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...

Lowe syndrome

Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys. Epidemiology It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...

Atelosteogenesis

Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine. Pathology Subtypes atelosteogenesis type I (boomerang dysplasia) atelosteogenesis type II atelosteogenesis type III 4

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