Articles
Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.
785 results found
Article
Clinodactyly
Clinodactyly is a descriptive term that refers to a radial angulation at an interphalangeal joint in the radio-ulnar or palmar planes. It typically affects the fifth finger.
Epidemiology
The estimated incidence is highly variable dependent on sampling and has been reported to range between 1-...
Article
Placental lake
Placental (venous) lakes refer to a phenomenon of formation of hypoechoic cystic spaces centrally within the placenta. Finding placental lakes during a second trimester ultrasound scan is not associated with any uteroplacental complication or with an adverse pregnancy outcome. They can, however,...
Article
Bilobed placenta
A bilobed placenta also referred to as bipartite placenta, is a variation in placental morphology and refers to a placenta separated into two near equal-sized lobes. If more than two lobes are present, it is termed a trilobed, four-lobed, and so on. If the second lobe is smaller than the main lo...
Article
Fryns syndrome
Fryns syndrome (FS) is a rare congenital disorder which can have significant phenotypic variability but is primarily characterized by cranio-facial anomalies, diarphagmatic defects and distal limb anomalies.
Epidemiology
Incidence is estimated at 1:15,000 live births.
Clinical presentation
T...
Article
Congenital rubella syndrome
Congenital rubella syndrome is a spectrum of congenital abnormalities that result from primary maternal infection with the rubella virus. It falls under the TORCH group of infections.
It is important to note that reinfection/reactivation of maternal infection has a significantly lower risk of f...
Article
Fetal warfarin syndrome
Fetal warfarin syndrome (FWS) is a rare condition which can occur as a result of fetal exposure to maternal ingestion of warfarin during pregnancy.
Clinical presentation
Reported clinical features include:
facial anomalies
nasal bone hypoplasia
nasal bridge depression
skeletal anomalies
s...
Article
Meconium pseudocyst
Meconium pseudocyst formation is a complication that can occur with meconium peritonitis.
Pathology
It occurs when the extruded meconium becomes walled off within the peritoneal space.
Radiographic features
Plain radiograph
May be seen as a rim calcified mass within the abdomen.
Antenatal ...
Article
Fetal pericardial effusion
Fetal pericardial effusions occur when there is an accumulation of pericardial fluid in utero. In order to be considered abnormal, it is generally accepted that the pericardial fluid thickness should be >2 mm ref.
Epidemiology
The estimated incidence is at ~ 2% of pregnancies 8.
Pathology
As...
Article
Fetal intrahepatic calcification
Fetal intrahepatic calcification can be a relatively common finding. Calcifications in the liver can be single or multiple and in most cases in which isolated hepatic calcific deposits are detected, there is usually no underlying abnormality.
The presence of isolated intrahepatic calcification ...
Article
Fetal ventriculomegaly
Fetal ventriculomegaly refers to the presence of dilated cerebral ventricles in utero.
Important in itself, it is also associated with other CNS anomalies.
Epidemiology
Using the current sonographic cut-off criteria (see radiographic features below), the estimated prevalence may be at ~0.9% o...
Article
Sirenomelia
Sirenomelia (also known as the mermaid syndrome) is a rare congenital malformation characterized by the fusion of lower limb structures.
Epidemiology
The estimated incidence is at ~1 in 60,000-70,000 of pregnancies 9. There may be greater male predilection (somewhat paradoxical given the usage...
Article
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.
Epidemiology
There is recognized strong female predi...
Article
Fetal megacystis
Fetal megacystis refers to the presence of an unusually large urinary bladder in a fetus.
Epidemiology
The estimated incidence of antenatal imaging is at ~1:1500 pregnancies.
Associations
Associated anomalies are common 6 and include:
posterior urethral valves
chromosomal anomalies
on a ...
Article
Spina bifida
Spina bifida is a type of neural tube defect/spinal dysraphism which can occur to varying degrees of severity. It is often considered the most common congenital CNS malformation.
Terminology
Spina bifida in its strictest sense means defective fusion of the vertebral posterior elements, leading...
Article
Fetal ascites
Fetal ascites refers to the accumulation of free fluid in the fetal abdomen. It is often considered under the same spectrum of hydrops fetalis.
Pathology
Etiology
any condition that results in hydrops fetalis
additional causes include
idiopathic
bowel perforation (e.g. meconium peritonitis...
Article
Fetal pyelectasis
Fetal pyelectasis refers to the prominence of the renal pelvis in utero that is a relatively common finding, which in the majority of cases resolves spontaneously.
Please refer to the article on fetal hydronephrosis for a continued discussion on this matter.
Terminology
Although there is a...
Article
Triploidy
Triploidy is a rare lethal chromosomal (aneuploidic) abnormality caused by the presence of an entire extra chromosomal set.
Epidemiology
It is considered the 3rd commonest fatal chromosomal anomaly 7. While it is thought to affect as much as 1-2% of conceptions, the vast majority are thought t...
Article
Chorioamniotic separation
Chorioamniotic separation is an intrauterine event that can occur in pregnancy and is characterized by separation of the placental (chorion) and fetal (amnion) membranes.
Epidemiology
Associations
increased rates of underlying fetal chromosomal and developmental abnormalities have been associ...
Article
Fraser syndrome
Fraser syndrome is an extremely rare congenital syndromic anomaly.
Epidemiology
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
Clinical spectrum
The syndromic spectrum can comprise of:
cryptophthalmos
syndactyly: often cutaneous
tracheal atre...
Article
Tracheal atresia
Tracheal atresia is an extremely rare anomaly and refers to a congenital absence of the trachea.
Epidemiology
There may be a greater male predilection 5.
Associations
Associated anomalies can be present in up to 90% of cases 5:
congenital high airways obstruction syndrome (CHAOS): some aut...
Article
Pulmonary hypoplasia
Pulmonary hypoplasia refers to deficient or incomplete development of parts of the lung. It can develop as a result of a number of other in utero anomalies.
Epidemiology
Pulmonary hypoplasia has been reported to affect 1.4% of all births 13 however the true prevalence is not well known. In cas...
Article
Fetal bradycardia
Fetal bradycardia refers to an abnormally low fetal heart rate, a potentially ominous finding. A sustained first trimester heart rate below 100 beats per minute (bpm) is generally considered bradycardic. The average fetal heart rate changes during pregnancy, however, and some consider the lower ...
Article
Mesoblastic nephroma
Mesoblastic nephroma, also sometimes known as a congenital mesoblastic nephroma (CMN), Boland's tumor or fetal renal hamartoma, is generally a benign renal tumor that typically occurs in utero or in infancy.
Epidemiology
It is the most common neonatal renal tumor. Diagnosis is usually made in ...
Article
Heterotopic pregnancy
Heterotopic pregnancy is a rare situation when there is an intra-uterine and extra-uterine (i.e. ectopic) pregnancy occurring simultaneously.
Epidemiology
The estimated incidence in the general population is estimated at 1:30,000 (for a naturally conceived pregnancy 7). The incidence among pat...
Article
Stenosis of the uterine cervix
Stenosis of the uterine cervix is the pathologic narrowing of the uterine cervix. The term cervical stenosis is clinically defined as cervical narrowing that prevents the insertion of a 2.5 mm wide dilator through the cervical os.
Epidemiology
One-fifth of patients have a history of exposure t...
Article
Cervical stenosis (disambiguation)
The term cervical stenosis can refer to:
stenosis of the uterine cervix
bony cervical canal stenosis (cervical spinal stenosis)
Article
Coffin-Lowry syndrome
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
Epidemiology
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
Clinical presentation
It is characterized by a numb...
Article
Antenatal screening
Antenatal screening and diagnosis are currently available for a few selected genetic conditions, including trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome) and neural tube defects.
For an overview of the conditions and their manifestations, please refer to t...
Article
Large for dates uterus
A large for date uterus is a clinical observation based on uterine fundal height, which may result in referral for ultrasound assessment, usually in mid to late pregnancy.
Pathology
Etiology
incorrect dates
constitutionally large fetus
multiple pregnancy
fetal macrosomia
polyhydramnios
u...
Article
Differential diagnosis for PV bleeding in pregnancy
Per vaginal (PV) bleeding during pregnancy is a common clinical presentation that often necessitates obstetric ultrasound for the assessment of the hemorrhage, and of fetal well being.
The potential causes vary with the stage of gestation.
Bleeding in the first trimester
miscarriage
threaten...
Article
Proboscis
Proboscis is a rare congenital anomaly where an anterior appendage-like structure is seen projecting from the midline fetal face/forehead. Depending on the exact location, this has further been classified into various subtypes (e.g. interorbital proboscis).
Pathology
Associations
The presence...
Article
Achondrogenesis
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
Epidemiology
The estimated incidence is 1:40,000, with no recognized gender predilection.
Pathology
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. The conditio...
Article
Maternal hydronephrosis in pregnancy
Maternal hydronephrosis in pregnancy often results as a physiological phenomenon due to the presence of the fetus.
Epidemiology
It is estimated that up to 90% of women have some degree of asymptomatic dilatation of the renal calyces, the renal pelves and the upper two-thirds of the ureters du...
Article
Perigestational hemorrhage
Perigestational hemorrhage refers to hemorrhage that occurs around the fetus during the gestational period. The spectrum of hemorrhage includes:
chorionic hemorrhage: caused by the separation of the chorion from the endometrium
subchorionic hemorrhage: most common type, occurs between the cho...
Article
Subchorionic hemorrhage
Subchorionic hemorrhage occurs when there is perigestational hemorrhage and blood collects between the uterine wall and the chorionic membrane in pregnancy. It is a frequent cause of first and second trimester bleeding.
Epidemiology
It typically occurs within the first 20 weeks of gestation. W...
Article
Cloacal exstrophy
Cloacal exstrophy (CE) is an extensive congenital abdominal wall defect which encompasses:
exstrophy of the bladder
omphalocele
lower abdominal wall defect
Epidemiology
The estimated prevalence is at around 1 in 50,000 to 200,000 live births. There is a recognized male predilection with a M...
Article
Fetal tachyarrhythmia
Fetal tachyarrhythmia refers to an irregular increase in fetal heart rate.
Epidemiology
Depending on its exact definition, the prevalence rate is thought to be around 0.5-1% of pregnancies.
Associations
associated congenital cardiac anomalies can occur but are relatively rare ( ~7% 7)
Cli...
Article
Fetal tachycardia
Fetal tachycardia is an abnormal increase in the fetal heart rate. It is variably defined as a heart rate above 160-180 beats per minute (bpm) and typically ranges between 170-220 bpm (higher rates can occur with tachyarrhythmias).
Epidemiology
The estimated prevalence is ~0.4-1% of pregnancie...
Article
Rocker bottom foot
A rocker bottom foot (also known as a congenital vertical talus) is a congenital anomaly of the foot. It is characterized by a prominent calcaneus/heel and a convexly rounded sole.
Pathology
It results from a dorsal and lateral dislocation of the talonavicular joint.
Associations
aneuploidic...
Article
Hypotelorism
Hypotelorism refers to an abnormal decrease in distance between any two organs although some authors use the term synonymously with orbital hypotelorism meaning an abnormal decrease in the distance between the two eyes (the eyes appear too close together). The article mainly focuses on the latte...
Article
Hypertelorism
Hypertelorism refers to an abnormal increase in distance between any two organs although some authors use the term synonymously with orbital hypertelorism meaning an abnormal increase in distance between the two eyes. The article mainly focuses on the latter. The abnormality is similar to teleca...
Article
Fetal goiter
A fetal goiter is an enlargement of the thyroid gland in utero. It can occur with either hyper- or hypothyroidism (and in isolated cases of euthyroidism 8).
Pathology
The mechanism depends on whether the underlying cause is hyper- or hypothyroidism.
Associations
maternal Graves disease with...
Article
Umbilical cord cyst
Umbilical cord cysts can refer to any cystic lesion associated with the umbilical cord. They can be single (more common) or multiple.
Epidemiology
They may be seen in ~3% of pregnancies in the first trimester 8.
Associations
There are associations (especially when there are additional sonogr...
Article
Carpenter syndrome
Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder.
Clinical spectrum
It is characterized by a number of features which include:
craniofacial malformations
craniosynostoses
kleeblattschädel (cloverlea...
Article
Sandal gap deformity
A sandal gap deformity, also known as hallux varus, is an imaging observation in antenatal ultrasound (typically second trimester) where there is an expanded first interspace, i.e. the gap between the great toe of the foot from the rest of the toes (likened to the gap caused by a sandal).
Whil...
Article
Antenatal soft markers on ultrasound
Antenatal soft ultrasound markers are fetal sonographic findings that are generally not abnormalities as such but are indicative of an increased age-adjusted risk of an underlying fetal aneuploidic or certain non-chromosomal abnormalities.
Most of the described features do not constitute a stru...
Article
Fetal clenched hands
Fetal clenched hands are an antenatal ultrasound observation where the fetal hands are in a constant (permanently) clenched position as if being unable to extend.
Epidemiology
Associations
Several syndromic conditions are associated with this observation including:
aneuploidic
Edwards syndr...
Article
Theca lutein cyst
Theca lutein cysts, also known as hyperreactio luteinalis, are a type of functional ovarian cyst. They are typically multiple and seen bilaterally.
Epidemiology
Associations
They have a very high association with gestational trophoblastic disease.
Other reported associations include:
multif...
Article
Placental site trophoblastic tumor
Placental site trophoblastic tumors (PSTT) are rare and one of the least common (~0.2% 7) forms of gestational trophoblastic disease.
Epidemiology
Placental site trophoblastic tumors typically occur in women of reproductive age with an average age of ~30 years. They may occur after a normal pr...
Article
Placenta accreta
Placenta accreta is both the general term applied to abnormal placental adherence and also the condition seen at the milder end of the spectrum of abnormal placental adherence (placenta accreta spectrum disorders). This article focuses on the second, more specific definition.
In a placenta accr...
Article
Invasive mole
Invasive mole is a tumorous growth associated with gestation and falls under the spectrum of gestational trophoblastic disease. Due to their aggressive growth characteristics, invasive moles are considered locally invasive non-metastasizing neoplasms.
Epidemiology
An invasive mole develops in ...
Article
Molar pregnancy
Molar pregnancies, also called hydatidiform moles, are one of the most common forms of gestational trophoblastic disease.
Epidemiology
Molar pregnancies are one of the common complications of gestation, estimated to occur in one of every 1000-2000 pregnancies 3. These moles can occur in a pre...
Article
Variation in placental morphology
There can be several variations in placental morphology. These include:
single lobed discoid placenta (single disc): most common scenario
bilobed placenta: two near equal size lobes
succenturiate lobe(s): one or more smaller accessory lobes
circumvallate placenta: rolled placental edges with...
Article
Succenturiate lobe
A succenturiate lobe is a variation in placental morphology and refers to a smaller accessory placental lobe that is separate to the main disc of the placenta. There can be more than one succenturiate lobe.
Epidemiology
The estimated incidence is ~2 per 1000 pregnancies.
Risk factors
Some au...
Article
Vasa previa
Vasa previa refers to a situation where there are aberrant fetal vessels crossing over or in close proximity to the internal cervical os, ahead of the fetal presenting part. These vessels are within the amniotic membranes, without the support of the placenta. Vasa previa is a rare but potentiall...
Article
Physiological gut herniation
Physiological gut herniation is a natural phenomenon that occurs in early pregnancy. It usually occurs from around 6-8 weeks until 12-13 weeks in utero, after which the bowel returns to the abdominal cavity.
Physiology
It occurs as a result of the bowel (particularly ileum) growing faster tha...
Article
Choriocarcinoma
Choriocarcinoma is an aggressive, highly vascular tumor. When it is associated with gestation, it is often considered part of the spectrum of gestational trophoblastic disease; it is then termed gestational choriocarcinoma. When it occurs in the absence of preceding gestation, it is termed non-g...
Article
Obstetric curriculum
The obstetric curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core obstetric knowledge.
Definition
Topics pertaining to the normal and abnormal pregnancy, the gravid uterus and fetal environment, placenta, normal fetal development and fet...
Article
Fanconi anemia
Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). Bone marrow failure usually results in decreased production of all blood cells. It is considered the commonest ...
Article
Arthrogryposis
Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body regions.
Epidemiology
Arthrogryposis has been mostly reported in individuals of Asian, African and European descent with equal inciden...
Article
Lambda sign (disambiguation)
There are two described lambda signs:
lambda sign (twin pregnancy)
lambda sign (sarcoidosis)
Article
Fetal alcohol syndrome
Fetal alcohol syndrome (FAS) is a potential syndromic complication that can occur with maternal pre-natal alcohol exposure. It is also broadly categorized as fetal alcohol spectrum disorders (FASD) due to the fact that the fetus may not show all the features and the broad spectrum of effects on ...
Article
Absent nasal bone
In a fetal sonographic assessment, an absent nasal bone is a feature that can sometimes be used as a surrogate marker for fetal aneuploidy.
Radiographic assessment
Antenatal ultrasound
It is assessed on a midline sagittal view. In this section, the nasal bone is often seen as a bright echogen...
Article
Posterior urethral valves
Posterior urethral valves (PUVs), also referred as congenital obstructing posterior urethral membranes (COPUM), are the most common congenital obstructive lesion of the urethra and a common cause of obstructive uropathy in infancy.
Epidemiology
Posterior urethral valves are congenital and only...
Article
Fetal heart rate in the first and second trimester
A normal fetal heart rate (FHR) usually ranges from 120 to 160 beats per minute (bpm) in the in utero period. It is measurable sonographically from around 6 weeks and the normal range varies during gestation, increasing to around 170 bpm at 10 weeks and decreasing from then to around 130 bpm at ...
Article
OEIS complex
The OEIS complex refers to the combined occurrence of:
an omphalocele
bladder exstrophy / cloacal exstrophy
an imperforate anus
and spinal anomalies: e.g
kyphoscoliosis
hemivertebrae
Epidemiology
The estimated occurrence is at around 1-200,000 to 400,000 live births 1,8.
Pathology
Pos...
Article
Gastroschisis
Gastroschisis refers to an extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions of the stomach and or liver) into the amniotic cavity through a para-umbilical anterior abdominal wall defect.
Epidemiology
The estimated incidence is around 1-6 per...
Article
Fetal biophysical profile
Fetal biophysical profile score (BPS or BPP) refers to assessment of four discrete biophysical variables by ultrasound. It is a standard tool in antepartum fetal assessment. It is usually assessed after 28 weeks of gestation.
Radiographic features
Antenatal ultrasound
The ultrasound variables...
Article
Ovarian vein thrombosis
Ovarian vein thrombosis (actually most often thrombophlebitis) occurs most commonly in postpartum patients and can result in pulmonary emboli. A presentation is usually with acute pelvic pain in the postpartum period, then termed puerperal ovarian vein thrombosis or postpartum ovarian vein throm...
Article
Ectopia cordis
Ectopia cordis is an extremely rare congenital malformation where the heart is located partially or totally outside the thoracic cavity. The four main ectopic positions are:
adjacent to the thorax: ~60%
abdominal: 15-30%
thoracoabdominal: 7-18%
cervical: ~3%
Epidemiology
The incidence is ...
Article
Brachydactyly
Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx 2. Single or multiple bo...
Article
Bladder exstrophy
Bladder exstrophy (also known as ectopia vesicae) refers to a herniation of the urinary bladder through an anterior abdominal wall defect. The severity of these defects is widely variable.
Epidemiology
The estimated incidence of bladder exstrophy is 1:10,000-50,000 live births 3,5. There is a ...
Article
Uterine rupture
Uterine rupture is a rare but nevertheless potentially catastrophic complication that can occur in pregnancy.
Epidemiology
The incidence rate in pregnancy is 0.05% 6.
Clinical presentation
Uterine rupture is usually an acute presentation with hemodynamic instability and abdominal discomfo...
Article
Congenital cytomegalovirus infection
Congenital cytomegalovirus infections result from intrauterine fetal infection by cytomegalovirus (CMV).
Epidemiology
Cytomegalovirus is the most common cause of intrauterine infection and the most common cause of congenital infective and brain damage, occurring in 0.2-2.4% of live births.
An...
Article
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...
Article
Conjoined twins
Conjoined twin pregnancy is a rare occurrence resulting from the failure of a zygote to separate completely after 13 days 11. This results in the twins being physically joined.
Epidemiology
The prevalence of conjoined twins ranges from 1:50,000 to 1:200,000. They are more common in parts of So...
Article
Acute fatty liver of pregnancy
Acute fatty liver of pregnancy (AFLP) is a rare pregnancy-associated condition that tends to manifest in the 3rd trimester of pregnancy or early postpartum period.
Epidemiology
The estimated incidence is at around 1:7000-20,000 births.
Clinical presentation
Patients may present with nausea,...
Article
HELLP syndrome
HELLP syndrome is a pregnancy-related condition and is an abbreviation for:
haemolysis
elevated liver enzymes and
low platelets
It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.
Epidemiology
The estimated inciden...
Article
Retained products of conception
Retained products of conception (RPOC) refer to the persistence of placental and/or fetal tissue in the uterus following delivery, termination of pregnancy or a miscarriage.
Epidemiology
RPOC complicates ~2.5% (range 1-5%) of all routine vaginal deliveries 12.
According to one prospective st...
Article
Gartner duct cyst
Gartner duct cysts develop from embryologic remnants of the Wolffian (mesonephric) duct. They are often noticed incidentally on ultrasound or MRI.
Epidemiology
Associations
Gartner duct cysts most often are isolated findings, but can also be associated with abnormalities of the metanephric ur...
Article
Encephalocele
Encephalocele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocele where brain tissue and overlying meninges herniate out through a defect in the cranium.
Terminology
It should be distinguished from cranial meningocele in which the lesion contains onl...
Article
Placental abruption
Placental abruption (or abruptio placentae) refers to a premature separation of the normally implanted placenta after the 20th week of gestation and before the 3rd stage of labor. It is a potentially fatal complication of pregnancy and is a significant cause of third-trimester bleeding/antepartu...
Article
Placenta previa
Placenta previa refers to an abnormally low lying placenta such that it lies close to, or covers the internal cervical os. It is a common cause of antepartum hemorrhage.
Placenta previa is a potentially life-threatening condition for both mother and infant. As such, antenatal diagnosis is essen...
Article
Seckel syndrome
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
Epidemiology
The estimated incidence is ~1:10,000. There is no recognized gender predilection.
Clinical presentation
It is clinically characterized by many features including:
intrauterine growth restriction
postnatal ...
Article
Pena-Shokeir syndrome
The Pena-Shokeir syndrome (PSS) is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. The condition is most often lethal.
Epidemiology
The estimated incidence is at ~1 in 12,000 births.
Clinical presentation
Features include 2,4:...
Article
Ovarian ectopic pregnancy
Ovarian ectopic pregnancies are rare when compared to other types of ectopic pregnancy such as tubal ectopic.
Epidemiology
The ovary is the anatomic site of less than 3% of ectopic pregnancies 5.
Clinical presentation
Patients present with abdominopelvic pain during the first trimester (usu...
Article
Goldenhar syndrome
Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae.
Epidemiology
The estimated incidence is at 1 in 3000-5000...
Article
Neu-Laxova syndrome
Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.
Clinical presentation
The clinical spectrum can be quite wide and includes:
dermal / cutaneous
severe skin restriction
ichthyosis
decreased fetal movement
marked intrauterine...
Article
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency, is an inborn error of cholesterol synthesis.
Epidemiology
The estimated incidence is at 1:20,000-40,000 live births. Prevalence may be greater in Nordic countries.
Associations
Hirschsprung disease
C...
Article
Micrognathia
The term micrognathia describes a small mandible.
Epidemiology
Associations
Micrognathia is associated with a vast array of other congenital anomalies which include:
aneuploidic syndromic
trisomy 9 4
trisomy 13
trisomy 18
non-aneuploidic syndromic
arterial tortuosity syndrome
Fryns sy...
Article
Ectrodactyly
Ectrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands (although the feet can also be affected). The condition has a highly variable severity.
Epidemiology
The estimated incidence is at ~ 1 in 9...
Article
Braxton Hicks contractions
Braxton Hicks contractions are physiological contractions of myometrium that occur in pregnancy. They are often sporadic and start by ~6 weeks.
Radiographic features
Antenatal ultrasound
It may be seen as a transient change myometrial thickness 2.
History and etymology
Named after John Brax...
Article
Uterine artery embolization
Uterine artery embolization (UAE) is an interventional radiological technique to occlude the arterial supply to the uterus and is performed for various reasons.
History
Uterine artery embolization has been practised for more than 20 years for controlling hemorrhage following delivery/abortion,...