Search results for “ophthalmology”
18 results found
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
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...
Article
Microphthalmia
Microphthalmia essentially means small eyes. It is characterized 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...
Article
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...
Article
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...
Article
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 ...
Article
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 ...
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
Cyclopia
Cyclopia refers to a rare fetal malformation characterized 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...
Article
Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown etiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies.
Epidemiology
The...
Article
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...
Article
Perinatal lethal hypophosphatasia
Perinatal lethal hypophosphatasia (PLH) is the most severe form of hypophosphatasia. If untreated, it is lethal in all cases.
Epidemiology
The estimated incidence is at ~1:100,000 live births.
Pathology
Genetics
As with all hypophosphatasia cases, this is due to a mutation in chromosome 1q3...
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
Anencephaly
Anencephaly is the most severe form of cranial neural tube defect and is characterized by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as an absence of the cranial vault. The morphological spectrum within anencephaly ranges from holocrania...
Article
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...
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
Roberts syndrome
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
Clinical presentation
general
intrauterine growth restriction
postnatal growth and developmental delay
failure to thrive
t...
Article
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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