Search results for “holoprosencephaly”

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110 results
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...
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Medical abbreviations and acronyms (H)

This article contains a list of commonly used medical abbreviations and acronyms that start with the letter H and may be encountered in medicine and radiology (please keep both the main list and any sublists in alphabetic order). A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q...
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Prosencephalon

Prosencephalon (plural: prosencephala or prosencephalons) or forebrain is one of the primary divisions of neural tube.  Later the forebrain further separates into the telencephalon (cerebrum) and diencephalon (thalamus and related structures). At about 8 weeks of intrauterine life, the prosenc...
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

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterised 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...
Article

Solitary median maxillary central incisor

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation (variant) of holoprosencephaly (HPE). Epidemiology It is estimated to occur in 1:50,000 live births. Pathology It is a complex disorder consisting of multiple, mainly...
Article

Absent septum pellucidum

An absent septum pellucidum may rarely be an isolated finding, or more commonly be seen in association with a variety of conditions. Epidemiology The septum pellucidum is partly or entirely absent in 2 or 3 individuals per 100,000 in the general population.  Pathology An absent septum pelluc...
Article

Pyriform aperture stenosis

Pyriform aperture stenosis refers to narrowing of the pyriform aperture and results from early fusion and hypertrophy of the medial nasal processes. Epidemiology Pyriform aperture stenosis is a rare cause of airway obstruction, and its prevalence is unknown. Pathology Associations alobar an...
Article

Midfacial hypoplasia

Midfacial hypoplasia is a type of congenital facial anomaly. Pathology Midfacial hypoplasia can be a feature of a number of congenital syndromic anomalies: Antley-Bixler syndrome chromosome 1p36 deletion syndrome 2 chromosome 18q deletion syndrome Crouzon syndrome fetal alcohol syndrome ...
Article

Fetal hydrocephalus

Fetal hydrocephalus often refers to an extension of fetal ventriculomegaly where the ventricular dilatation is more severe. It is usually defined when the fetal lateral ventricular diameter is greater than 15 mm 1. Epidemiology The estimated incidence is 0.5-3 cases per 1000 live births. There...
Article

Arachnoid cyst (fetal presentation)

A fetal arachnoid cyst is term given when an arachnoid cyst is diagnosed in utero. For a general discussion of arachnoid cysts refer to the parent article. Pathology They can be classified as being primary or secondary 2. primary (congenital) arachnoid cysts: result from a benign accumulation...
Article

Microphthalmia

Microphthalmia essentially means small eyes. It is characterised by a small eye within a small orbit. It can be unilateral or bilateral. It is sometimes defined as a globe with a total axial length that is at least two standard deviations below the mean for age. Pathology Microphthalmia can ha...
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Butterfly sign (choroid plexus)

The butterfly sign refers to the normal appearance of the choroid plexuses on axial imaging of the fetal brain, commonly observed on the antenatal ultrasound. Its absence may suggest holoprosencephaly 1. In the CNS, the term should not be confused with a butterfly glioma, which is a glioblastom...
Article

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...
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Cyclopia

Cyclopia refers to a rare fetal malformation characterised by a single palpebral fissure and a single midline orbit. This orbit may contain either a single globe or two separate globe. Epidemiology The condition is thought to affect approximately 1 in 40,000 to 95,000 births (inclusive of stil...
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Porencephaly

Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. The term is used variably among radiologists with its broadest definition being a cleft or cystic cavity within the brain 9, its more narrow definition be...
Article

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...
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

Paediatric curriculum

The paediatric curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core paediatric knowledge. Definition Topics pertaining to paediatric radiology, including paediatric neuroradiology and fetal radiology, although there will be some cross cov...
Article

Microcephaly

Microcephaly (plural: microcephalies) is a descriptive term meaning a small head associated with numerous disorders of diverse aetiology. It is usually associated with microencephaly (plural: microencephalies) (small brain). For the purpose of this article, the two terms will be used interchange...

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