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Placental fusion

Placental fusion is a phenomenon that can occur in a twin pregnancy. This can occur to varying degrees. Determination of chorionicity on ultrasound can sometimes be difficult if there has been a placental fusion. In a DCDA pregnancy, there are no vascular anastomoses between the twin placentae...

Rupture of fetal membranes

A rupture of membranes (ROM) or amniorrhexis is a term used during pregnancy to describe a rupture of the amniotic sac. This can occur as part of normal birth (or "spontaneously") if it occurs at full term at the onset of, or during, labor. It is also colloquially known as "breaking water." S...

Renal dysgenesis

Renal dysgenesis is a very broad term which can include any form underdevelopment of the kidneys. The spectrum includes: renal agenesis: complete lack of formation renal hypoplasia: partial lack of formation Some authors also classify any form of renal maldevelopment affecting size, shape of ...

Fetal premature ventricular contractions

Fetal premature ventricular contractions (FPVC) are a type ectopic ventricular contractions detected in utero. They are a type of extrasystoles. Premature ventricular contractions are often followed by a compensatory pause due to the refractory state of the conduction system; the next conducted...

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...

Fetal hepatosplenomegaly

Fetal hepatosplenomegaly refers to the combined enlargement of both the fetal liver and the fetal spleen. Pathology This can occur from a number of pathologies, including: transient abnormal myelopoiesis (TAM) 1,2 associated with trisomy 21 in association with fetal hydrops in utero infect...

Fetal choledochal cyst

Fetal choledochal cysts are choledochal cysts diagnosed in utero. Epidemiology The estimated incidence rate of choledochal cysts is ~1 in 2 million live births 2. There is a recognsed female predilection and a greater occurrence in Asian populations. Radiographic features Antenatal ultraso...

Microgenia

Microgenia is a term meaning a small chin. It is somewhat related to but distinct from the term micrognathia which means a small mandible. Pathology Associations Microgenia can be isolated or be associated with a number of anomalies which include campomelic dysplasia 1 hydrolethalus Noonan...

Mono nostril

A mono nostril falls under the midline facial defects which arise from cleavage anomalies. It can occur as part of many underlying conditions such as holoprosencephaly: particularly alobar holoprosencephaly trisomy 13 Pathology Associations Several other facial anomalies can be associated ...

Feto-maternal rhesus incompatibility

Feto-maternal rhesus (Rh) incompatibility is a situation when the maternal blood is Rh-negative blood and the fetal blood is Rh-positive (from paternal inheritance). It is a type fetomaternal blood group incompatibility and can, in turn, lead to several complications which classically includes t...

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 ...

Uterine enlargement (differential)

Uterine enlargement can occur in a number of situations from both diffuse and focal processes. These include: gestation related events normal intrauterine pregnancy molar pregnancy - gestational trophoblastic disease postpartum uterus - still larger than usual hormonal ...

Umbilical cord pseudocyst

Umbilical cord pseudocysts are a type of cystic lesion occurring in relation to the umbilical cord. Epidemiology Although the true incidence is not accurately known, they are comparatively much more common than true umbilical cord cysts. Pathology The pseudocyst basically comprises of mucoid...

Live ectopic pregnancy

A live ectopic pregnancy is an ectopic pregnancy where a live extrauterine fetus can be demonstrated.

Gestational choriocarcinoma

Gestational choriocarcinoma (GC) is a type of choriocarcinoma that follows a gestational event. Similar to choriocarcinomas in general, it lies at the malignant end of the spectrum of gestational trophoblastic disease. Pathology Approximately 50% of gestational choriocarcinomas arise from a pr...

Congenital utero-vaginal anomalies

There are many classification systems for congenital utero-vaginal anomalies. These include: Buttram and Gibbons classification 2 American Fertility Society (AFS) classification Modified Rock and Adam - AFS classification Modified Rock and Adam - AFS classification This classification divid...

Noack syndrome

The Noack syndrome is a type of acrocephalopolysyndactyly. It is now considered a variant of the Pfeiffer syndrome 2.

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...

Scar endometriosis

Scar endometriosis is a term given to endometriosis occurring in a cesarian section scar. It can be located in the skin, subcutaneous tissue, rectus muscle/sheath, intraperitoneally, or in the uterine myometrium (within uterine scar). Epidemiology The reported incidence of abdominal scar endom...

Demise of a twin

Demise of a twin is a complication that can occur in a twin pregnancy (particularly monochorionic pregnancies) and may be due to a wide range of conditions. Once the twin dies, most of the dead twin tends to be absorbed leaving behind a small flattened remnant known as the fetus papyraceus. Epi...

Finnish type congenital nephrotic syndrome

The Finnish type congenital nephrotic syndrome is a sub type of congenital nephrotic syndrome. A large placenta and proteinuria from birth are considered hallmarks of the disease 2. The proteinuria is often of intra-uterine onset. Although it is named the Finnish type, it can occur outside Finla...

Subamniotic hemorrhage

Subamniotic hemorrhage is considered a type of perigestational hemorrhage. Pathology Subamniotic hematomas are classical placental pathological lesions resulting from the rupture of chorionic vessels (allanto-chorionic vessels) close to the cord insertion. A subamniotic hemorrhage is contain...

Retroplacental hemorrhage

Retroplacental hemorrhage occurs when there is perigestational hemorrhage that is confined to the retroplacental space. Pathology This type of hemorrhage occurs behind the placenta. The hematoma, therefore, separates the placenta from the uterine wall. The source of bleeding is probably from s...

Pregnancy of unknown location

The term pregnancy of unknown location (PUL) is assigned when neither an intrauterine pregnancy (IUP) or an ectopic pregnancy is identified on transvaginal ultrasound in the context of a positive pregnancy test. Clinical presentation pelvic pain vaginal bleeding positive pregnancy test Path...

Placental tumors

There are many tumors that can involve the placenta. These can be of very different pathology and can include placental chorioangioma (considered the most common primary tumor of the placenta 1) placental chorioangiomatosis placental teratoma placental metastases placental site trophobla...

Placental teratoma

A placental teratoma is a very rare placental tumor. Pathology A placental teratoma is benign and almost never associated with congenital deformities in the fetus. Radiographic features Antenatal ultrasound May show a heterogeneous mass at the placental margin. Hyperechoic foci consistent w...

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

Shortening of the cervical canal

Shortening of the uterine cervical canal as the name implies refers to an abnormal shortening of the uterine cervical length. It is considered a sign of cervical incompetence during pregnancy and can lead to premature delivery. Pathology Etiology primary (i.e. congenital/idiopathic) secondar...

Binocular distance

The binocular distance (BOD) is a measurement between the two lateral (outer) canthi of each eye. It is sometimes used as a accessory fetal biometric parameter where it is often documented on both 2nd trimester anatomy scans on axial brain scans. The largest diameter of the orbit should be used ...

Interocular distance

The interocular distance (IOD) is a measurement between the two medial canthi of each eye. It is often measured as an accessory biometric parameter on routine antenatal ultrasound scans on the axial images. As a rule of thumb, the interorbital distance should be roughly equal to the ocular diame...

Dystocia

The term dystocia in obstetrics means a "difficult birth". There can be many types of dystocia which include: shoulder dystocia cervical dystocia pelvic dystocia

Cordocentesis

Cordocentesis is a method of fetal blood sampling which is usually carried out under ultrasound guidance. Indications It may be performed for various reasons which include: establish the degree of a fetal anemia further investigation of an underlying chromosomal anomaly further investigatio...

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features. Clinical presentation It is characterized by many features which include: poikiloderma: characteristic rash, typically develops in infancy sparse hair, eyelashes, and/or ey...

In utero bowel perforation

In utero bowel perforation results in a chemical peritonitis (meconium peritonitis) from peritoneal leakage of sterile meconium. It can result from many causes which include: intestinal atresias: jejuno-ileal atresia ileal atresia anal atresia in utero intestinal ischemia underlying gastr...

Anophthalmia

Anophthalmia refers to a complete absence of ocular development. It is often considered to represent the most severe form of microphthalmia. Pathology Anophthalmia can occur in three situations: primary anophthalmia: complete absence of eye tissue due to a failure of the part of the brain tha...

Placental chorioangiomatosis

Placental chorioangiomatosis is an extremely rare condition where numerous placental chorioangiomas involve the placenta. The individual chorioangiomas can be of varying size. Complications Recognized complications include precipitation of fetal hydrops 2 fetal anemia fetal cerebral emboli 1

Non-gestational choriocarcinoma

Non-gestational choriocarcinoma is choriocarcinoma occurring in the absence of a preceding gestation. As opposed to gestational choriocarcinoma, this is a much rarer situation. Pathology In women, they often tend to occur in the ovary. Most ovarian non-gestational choriocarcinomas occur in mix...

Long philtrum

A long philtrum is a clinical or imaging observation where the philtrum (middle part of the upper lip) is longer than normal. Pathology Associations It can be associated with a number of anomalies which include Aarskog syndrome Cornelia de Lange syndrome DiGeorge syndrome femoral hypopl...

Umbilical venous dilatation

Umbilical venous dilatation is a rare entity and often tends to occur as an isolated finding 4. Dilatation of the umbilical vein can arise from a number of pathologies: umbilical venous varix (UVV): particularly if focal fetal hydrops: a focal dilatation due to an umbilical venous varix with...

In utero varicella zoster virus infection

An in utero varicella zoster virus infection is an infrequent type of in utero infection. The clinical features can be diverse and variable depending on the stage of gestation. Epidemiology Fetal infection with varicella is unusual in the current age due to most women of childbearing age being...

Small placenta

A small placenta if observed on antenatal ultrasound can arise from a number of situations. They include: variation in placental morphology: where only part of the placenta is seen bilobed placenta: with only one lobe seen succenturiate lobe: with either main lobe or succenturiate lobe not se...

Empty amnion sign

The empty amnion sign is a sonographic observation where there is the visualization of an amniotic sac without concomitant visualization of an embryo. It is an indicator of pregnancy failure regardless of the mean sac diameter and is considered to have a sufficiently high positive predictive val...

Amnion

Amnion refers to a membranous structure which covers and protects the embryo. It forms inside the chorion. The amnion usually fuses with the outer chorion by around 14 weeks of gestation. Radiographic features Ultrasound The amnion can be visualized in most pregnancies before the 12th week of...

Twin growth disparity

A twin growth disparity is a closely related term to twin growth discordance. In a twin growth disparity, there may be a significant size or weight difference between the two fetuses but estimated fetal weight of smaller twin does not fall below the 10th centile. ( In contrast to twin growth dis...

Ruptured omphalocele

Ruptured omphalocele occurs when there is rupture of the outer membrane of an omphalocele. When this happens the eviscerated fetal bowel looks free floating and distinction from gastroschisis becomes difficult. However, with a ruptured omphalocele, the abdominal defect generally tends to be larg...

Chorion

The chorion is one of the embryonic membranous structures that encloses the fetus and the amnion. The chorion begins to form chorionic villi towards its outer surface, which initially serves to provide nutrition to the developing embryo. Part of the chorionic villi arborize more extensively an...

Fetal splenomegaly

Fetal splenomegaly (or simply an enlarged fetal spleen) can arise from a number of situations. It can occur with or without fetal hepatomegaly. These include in utero infection in utero parvovirus B19 infection in utero cytomegalovirus infection 1 inborn errors of metabolism Gaucher diseas...

Fetal hepatomegaly

Fetal hepatomegaly (or more simply an enlarged fetal liver) can occur in number of situations. It can occur with or without fetal splenomegaly. Pathology Etiology in utero infections: the commonest cause fetal cytomegalovirus infection (CMV) 3 fetal parvovirus B19 infection in utero syph...

In utero herpes simplex infection

In utero herpes simplex infection usually occurs from transplacental transmission of the herpes simplex virus. Transplacental intrauterine infection with herpes simplex virus is an extremely rare complication of primary herpes simplex in pregnancy. Epidemiology Fetal HSV infection much less co...

Fetal urinary ascites

Fetal urinary ascites is one of the causes of fetal ascites and can arise from a number of pathologies: in utero bladder perforation fetal megacystis transudation from the fetal bladder persistent urogenital sinus Radiographic features Ultrasound The presence of fetal ascites without fe...

Fallopian tubal rupture

Fallopian tube rupture is most often a complication of a tubal ectopic pregnancy where the pregnancy breaks open due to progressive growth. It can potentially lead to shock. Pathology Risk factors Factors that raise the risk for a tubal rupture in a given tubal ectopic pregnancy include 2-4: ...

Fimbrial ectopic pregnancy

A fimbrial ectopic pregnancy is a subtype of tubal ectopic pregnancy. This subtype accounts for ~ 5 -11% 1,3 of all tubal ectopic pregnancies. In a fimbrial ectopic, the implantation is at the fimbria of the fallopian tube which is closest to the ovary. The chance of a tubal rupture is comparati...

Fetal thrombocytopenia

Fetal thrombocytopenia refers to an abnormally low platelet count in the fetus. The acceptable normal range for a fetal platelet count is similar to adults and do not vary significantly with gestation age. The lower limit for cut off is therefore usually taken as: 150,000/uL for thrombocytopeni...

Hemorrhagic corpus luteal cyst

Hemorrhagic corpus luteal cysts result from bleeding into corpus luteal cysts. Radiographic features Ultrasound Commonly described findings include: complex adnexal mass adnexal thick-walled cystic lesion with lace-like strands adnexal thick-walled cystic lesion with low-level echoes withi...

Prolonged rupture of membranes

Prolonged rupture of membranes refers to a rupture of membranes lasting longer than 18-24 hours (i.e. between time of rupture and time of delivery) 1-2. This situation can occur in either the term or pre-term newborns where in the latter case it is also termed prolonged preterm rupture of membra...

Antepartum hemorrhage

Antepartum hemorrhage (APH) refers to vaginal bleeding during the second half of pregnancy (>20 weeks gestation). Antepartum hemorrhage may occur in varying degrees from mild to severe, with concomitant risk to the mother and fetus and potentially result in severe maternal/fetal compromise, incl...

Breus mole

A Breus mole is a term that was given to a very large subchorionic hemorrhage, an unfortunate misnomer because this entity bears no relationship to the molar pregnancy. Pathology The lesions are a mass of fibrin formed secondary to thrombosis. They dissect and form a subchorionic thrombohemato...

Fetal biometric parameters

Fetal biometric parameters are antenatal ultrasound measurements that are used to indirectly assess the growth and well being of the fetus. Standard parameters Assessed and reported on a routine 2nd-trimester scan or when growth reassessment is required in the second or third trimester. bipar...

Variation in fetal presentation

There can be many variations in the fetal presentation which is determined by which part of the fetus is projecting towards the internal cervical os. This includes: cephalic presentation: fetal head presenting towards the internal cervical os, considered normal and occurs in the vast majority o...

Blocked premature atrial contractions

Blocked premature atrial contractions (BPACs) are considered a type cardiac bradyarrhythmia and if occurring in utero is classified under a fetal bradyarrhythmia. Pathology It is seen when a premature atrial contraction occurs very early on and consequently, it is not conducted into the ventri...

Fetal urachal cyst

A fetal urachal cyst refers to a urachal cyst occuring in utero. It may or may not communicate with the vertex of the fetal bladder. It may also arise within the umbilical cord. Umbilical cord urachal cysts originate from an extra-abdominal urachal system. See also fetal intra-abdominal cysts...

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical...

Polysyndactyly

Polysyndactyly refers to the combined presence of polydactyly as well as syndactyly involving either the hands or feet. Polysyndactyly can be associated with a number of syndromes which includes: acrocephalopolysyndactylies (GCPS) type I: Noack syndrome type II: Carpenter syndrome...

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...

Fetal polycythemia

Fetal polycythemia is manifested by an abnormally increased central venous hematocrit (Hct) level in utero. One of the key concerns with polycythemia is related to hyperviscosity and its associated complications. Pathology Associations twin to twin transfusion syndrome: in recipient twin ges...

Mirror syndrome

Mirror syndrome or triple edema or Ballantyne syndrome is a rare disorder affecting pregnant women. It refers to the unusual association of fetal and placental hydrops with maternal pre-eclampsia and edema. History and etymology It was first described in 1892 by John William Ballantyne.

Fetal hypoxia

Fetal hypoxia (FH) (also known as intrauterine hypoxia (IH)) occurs when the fetus is deprived of an adequate supply of oxygen. Pathology Fetal hypoxia can occur from a number of reasons: umbilical cord prolapse cord occlusion or cord thrombosis placental infarction maternal smoking intra...

Fetal bowel dilatation

Fetal bowel dilatation can occur from many causes, which include: intestinal atresias: mainly distal anal atresia apple-peel intestinal atresia ileal atresia jejunal atresia jejuno-ileal atresia Hirschsprung disease megacystis microcolon hyperperistalsis syndrome 4 congenital chloride d...

Intertwin membrane folding

Intertwin membrane folding is an observation where the intertwin membrane in a twin pregnancy appears as being folded. It is sometimes used as a predictor for the development of twin to twin transfusion syndrome. It occurs as a result of amniotic fluid discordance. Some reports suggest that fol...

Low set ears

Low set ears is a descriptive term used to given a depressed or abnormally low positioning of the pinna by two or more standard deviations below the population average. Pathology Associations Low set ears can be associated with a number of anomalies which include: aneuploidic / chromosomal s...

Fetal arteriovenous malformations

A fetal arteriovenous malformation (FAVM) is essentially an arteriovenous malformation that presenting in utero. They tend to be very different in location to those that commonly occur in children and adults. They include fetal intracranial arteriovenous malformations vein of Galen malformati...

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...

Abnormally thickened endometrium (differential)

Abnormally thickened endometrium on imaging may occur for a number of reasons which may be categorized based on whether or not they are related to pregnancy. Etiologies may also be classified based on whether the patient is premenopausal or postmenopausal. Differential diagnosis Pregnancy-rela...

Amyoplasia congenita

Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue. Epidemiology The estimated incidence is at 1: 10000 live births. There may be a higher prevalence with twin preg...

Failed pregnancy

Failed pregnancy is a pregnancy that will not carry through to term. It is termed a miscarriage or failed early pregnancy when fetal demise occurs before 20 weeks gestational age and fetal death in utero (FDIU) when it occurs after 20 weeks gestation. Practical points The term "non-viable" pr...

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...

Fetal akinesia

Fetal akinesia essentially means a complete lack of fetal movement (cf. fetal hypokinesia where fetal movement is less than expected). The significance of detecting fetal akinesia in a live fetus is that it can be associated with a fetal akinesia deformation sequence.

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...

Intrauterine blood clot

Intrauterine blood clot can result from a number of situations in gravid, non-gravid and postpartum states. It can mimic many other pathologies. Pathology Any condition that predisposes to an intrauterine hemorrhage can potentially result in an intrauterine blood clot. Radiographic features ...

Agenesis of the diaphragm

Agenesis of the diaphragm is a congenital diaphragmatic developmental anomaly where all or part of diaphragm fails to form. It can sometimes be thought of as an extreme form congenital diaphragmatic herniation 1. Pathology The agenesis can either be unilateral or bilateral. Herniation of abdom...

Uterine perforation

Uterine perforation represents a serious complication that can occur as a result of any type of intrauterine procedure or implantation. Some authors use the term uterine rupture synonymously with the term uterine perforation. Pathology Causes IUCD insertion: IUCD related uterine perforation ...

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...

Fetal cardiothoracic circumference ratio

Fetal cardiothoracic (C/T) circumference ratio is a parameter that can be used in the assessment of fetal cardiac and thoracic/chest wall anomalies. It is the ratio of the cardiac circumference to the thoracic circumference and may be easily measured on fetal ultrasound/echocardiography. Radio...

Fetal cardiomegaly

Fetal cardiomegaly (FC) refers to an enlarged fetal heart. It is variably defined with some sources stating the cut-off as a fetal cardio-thoracic circumference above two standard deviations 7. Pathology It can arise from a number of situations: congenital cardiac anomalies: particularly tr...

IUCD-related uterine perforation

IUCD-related uterine perforations are one of the causes of uterine perforation. It is a rare, but serious complication of an intrauterine contraceptive device (IUCD), and is often clinically silent. Epidemiology The incidence rate is reported at ~2 in 1000 2. Risk factors postpartum period ...

Trisomy 22

Trisomy 22 is an aneuploidic chromosomal anomaly which is usually fatal unless in mosaic forms. Pathology Variants Duplication of the short arm (p) and a small section of the long arm (q) of chromosome 22 can give result to the cat-eye syndrome - Schmidt-Fraccaro syndrome. Radiographic featu...

Cervical length

In obstetric and gynecological imaging, the cervical length is defined as the distance between the internal cervical os and the external cervical os. Radiographic assessment Ultrasound the cervical length is most accurately assessed on a transvaginal scan with an empty bladder in a normal gr...

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 ...

Uterine duplication anomalies

Uterine duplication anomalies are a group of Müllerian duct anomalies where fusion of the Müllerian duct associated structures fail to some degree: uterus didelphys: class III bicornuate uterus: class IV (second commonest duplication anomaly) septate uterus: class V (commonest du...

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...

Fetal intracranial cystic lesions

Fetal intracranial cystic lesions can arise from a number of pathologies, including: Non-tumourous fetal arachnoid cyst fetal choroid plexus cyst fetal connatal cyst fetal porencephalic cyst fetal interhemispheric cyst fetal subependymal cyst dorsal cyst of holoprosencephaly Blake pouc...

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...

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