Synonymer & Information om | Engelska ordet MICROPHTHALMIA

Exempel på hur man kan använda MICROPHTHALMIA i en mening

• It consists of a proboscis separating narrow-set eyes with an absent nose and microphthalmia (abnormal smallness of one or both eyes).
• Patau syndrome (trisomy 13), a chromosomal abnormality that can cause a number of deformities, some of which include structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus coloboma, retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia.
• It has been postulated that microphthalmia arises as a result of interference with postnatal eye growth, in contrast to anophthalmia which originates much earlier during fetal development.
• A 2017 report by Jessica Fragola and Leandro Teixeira in Investigative Ophthalmology & Visual Science entitled "Microphthalmia with multiple ocular abnormalities in 11 horses: a novel syndrome" noted a novel ocular syndrome in horses characterized by bilateral microphthalmia and aphakia associated with multiple ocular abnormalities, and given the predominance of anterior segment lesions, a defect during the embryological development of the lens placode was suspected.
• These true malformations include, but are not limited to, cleft palate, heart defects, microphthalmia, microencephaly and hydrocephalus.
• Bosma arhinia microphthalmia, an extremely rare genetic disorder in which both arhinia and microphthalmia are present.
• Mutations in the RBP4 gene have recently been linked to a form of autosomal dominant microphthalmia, anophthalmia, and coloboma (MAC) disease.
• Apart from anophthalmia and microphthalmia, other abnormalities such as aplasia of the optic nerve, hypoplasia of the optic chiasm and dysplastic optic globes have also been observed.
• Mutations in the HCCS gene cause microphthalmia with linear skin defects (MLS) syndrome, also known as MIDAS syndrome, microphthalmia, syndromic 7 (MCOPS7), or microphthalmia, dermal aplasia, and sclerocornea.
• Additionally, the down-regulation of an ortholog of COX7B has suggested that there may be an association between COX7B dysfunction and microphthalmia with linear skin lesions (MLS), microcephaly, and mitochondrial disease.
• Another case study, a child from consanguineous patients, presented as significant hypotonia in infancy, poor feeding, and dysmorphic facial features, including narrowed, downslanting palpebral fissures, short convex nose with depressed nasal bridge, microphthalmia, cataracts, and adducted thumbs.
• PAX6 also coordinates the expression of other eye development genes, including the SOX2 and Orthodenticle homeobox 2 (OTX2) genes which are mutated in microphthalmia and anophthalmia.
• Cross syndrome (also known as "Cross–McKusick–Breen syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe intellectual disability and physical retardation.
• Clinical manifestations similar to all five described cases of Kapur–Toriello syndrome severe neurodevelopment delay, microphthalmia and/or coloboma, low set and malformed ears, bilateral cleft lip and palate, and constipation.
• After returning to the UK for further studies in medicine, obtained his DOMS degree in ophthalmology at Moorfields Eye Hospital in 1932, having trained under John Herbert Parsons and publishing three papers on exophthalmia and microphthalmia.
• Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with droopy eyelids (blepharoptosis), resulting in visual impairment or blindness.
• Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.
• 13q deletion syndrome gives a characteristic appearance to affected individuals, potentially including microphthalmia (small eyes), hypertelorism (wide-set eyes), thin forehead, high palate, underdeveloped midface, small mouth, small nose, broad, flat nasal bridge, short neck, low hairline, irregular or wrongly positioned teeth, low-set ears, micrognathia (small jaw), tooth enamel defects, short stature, microcephaly (small head), a prominent, long philtrum, and earlobes turned inwards.
• Affected individuals may have unusually small eyes (microphthalmia), swelling of the optic disk due to leakage of cerebrospinal fluid (papilledema), and farsightedness.
• The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia (no anus), and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).

Förberedelsen av sidan tog: 315,52 ms.