Articles

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More than 200 results
Article

Congenital cervical teratoma

Congenital cervical teratoma refers to a teratoma arising in the cervical region. They are thought to account for ~3% of teratomas in childhood/infancy 3. Epidemiology The estimated occurrence in neonates is ~1:20,000-40,000 live births 8. Clinical presentation Most tumors are diagnosed at b...
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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...
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Monochorionic monoamniotic twin pregnancy

A monochorionic monoamniotic (MCMA) twin pregnancy is a subtype of monozygotic twin pregnancy. These fetuses share a single chorionic sac, a single amniotic sac, and, in general, a single yolk sac.  Epidemiology It accounts for the minority (~5%) of monozygotic twin pregnancies and ~1-2% of al...
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Fetal toxoplasmosis

Fetal toxoplasmosis is an in utero infection that results from transplacental transmission and subsequent infection with the organism Toxoplasma gondii. It falls in the TORCH group of infections. Please refer to congenital cerebral toxoplasmosis for a specific discussion on this condition.  Ep...
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Fetal cystic renal disease

Fetal cystic renal disease can be in included in three of the four types classified according the system by Osathanondh and Potter 1: Potter type I: infantile polycystic kidney disease Potter type II: multicystic dysplastic kidneys Potter type III: adult polycystic kidney disease Potter type...
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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...
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Acrocephalopolysyndactyly

Acrocephalopolysyndactyly (ACPS) syndrome is comprised of a rare group of disorders collectively characterized by: calvarial anomalies: e.g. craniosynostoses digital anomalies: syndactyly and polydactyly While there can be some overlap in features, they can be primarily classified into the fo...
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Umbilical cord knot

Umbilical cord knot is a term given to denote either true umbilical cord knot: often the term "umbilical cord knot" is used to describe this entity 1 or false umbilical cord knot: usually of no clinical significance See also umbilical cord entanglement
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Decidual cast

Decidual cast refers to the presence of an amount of relatively echogenic material in the uterine cavity in the context of an ectopic pregnancy. 
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Subchorionic cyst

Subchorionic cysts are often considered a subtype of placental surface cyst (commonest type). They are often multiple and may be present in ~5-7% of term placentas 2. Occasionally they can compress chorionic or amniotic vessels leading to adverse fetal outcome.
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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...
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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.
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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...
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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...
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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...
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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...
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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...
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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...
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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...
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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...

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