Cases reported "Eye Abnormalities"

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1/35. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.

    anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.
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ranking = 1
keywords = strabismus
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2/35. Clinical features of congenital absence of the superior oblique muscle as demonstrated by orbital imaging.

    INTRODUCTION: Absence of an extraocular muscle was considered rare when demonstrable only by surgical exploration or necropsy. This study presents advances in orbital imaging to correlate clinical findings with absence of the superior oblique (SO) muscle. methods: We performed high-resolution coronal orbital imaging by magnetic resonance imaging (222 orbits) or computerized radiographic tomography (32 orbits) in 127 patients with strabismus. We reviewed the histories and ocular motility examinations in patients who had absence of 1 or both SO muscles. Findings were compared with patients who were clinically diagnosed with SO palsy but had demonstrable SO muscles on orbital imaging. RESULTS: SO muscles were absent in 6 patients. All had histories suggesting congenital strabismus. In patients old enough for quantitative testing who had unilateral SO muscle absence, visual acuity was a least 20/25 in all and stereopsis was better than 80 arc/s in one. Three patients were orthotropic in primary position. Five patients with unilateral SO muscle absence had clinical findings variably consistent with SO palsy, whereas a sixth patient with Duane syndrome had clinically unsuspected bilateral SO muscle absence. Versions and patterns of hypertropia in patients with SO muscle absence overlapped findings of 20 patients with SO palsy but demonstrable SO muscles. CONCLUSIONS: Imaging can frequently demonstrate absence of the SO muscle in patients with SO palsy. Such patients may have good vision and stereopsis and clinical findings indistinguishable from SO palsy without absence of the SO muscle. Orbital imaging should be considered in the evaluation of congenital SO palsy to facilitate planning of effective surgical correction.
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ranking = 2
keywords = strabismus
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3/35. Ophthalmic features of chromosome deletion 4p- (wolf-hirschhorn syndrome).

    By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.
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ranking = 1.0166429735971
keywords = exotropia
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4/35. Melnick-needles syndrome.

    A 10-year-old female with a generalized bone dysplasia was found to have a rare condition, Melnick-needles syndrome. Characteristic clinical features of this syndrome include exophthalmos, hypertelorism, micrognathia, malaligned teeth, and large ears in a person with multiple bone deformities. In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological findings other than exophthalmos and strabismus.
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ranking = 1
keywords = strabismus
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5/35. Congenital absence of lateral rectus muscle.

    A four-year-old female presented with a 60 PD left esotropia and Axenfeld's anomaly OU. Cosmetic strabismus surgery was undertaken, at which time it was discovered that the left lateral rectus was absent. The medial rectus was recessed, without change in the esotropia. At a second procedure six months later, the superior and inferior rectus muscles were transposed to the area of the missing lateral rectus. Follow-up examination revealed an 8 PD left esotropia with full ductions.
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ranking = 1
keywords = strabismus
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6/35. Unilateral glaucoma in sotos syndrome (cerebral gigantism).

    PURPOSE: To report a patient with unilateral glaucoma associated with sotos syndrome. sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. methods: Case report. A 50 year-old man with the clinical features of sotos syndrome presented with complaints of decreased vision in the left eye. RESULTS: Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. intraocular pressure was lowered, and visual field loss was stabilized with topical medications. CONCLUSION: sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.
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ranking = 1
keywords = strabismus
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7/35. Congenitally anomalous tented eyebrows.

    PURPOSE: An uncommon congenital anomaly of the eyebrows is described. methods: Case report and review of the literature. RESULTS: Two articles in the English literature were found describing patients similar to ours. CONCLUSIONS: Congenital upward tenting of the midportion of the eyebrows, resembling the eyebrow line of an owl, is uncommon. This anomaly is thought to be transmitted in an autosomal dominant fashion and may be accompanied by myopia and strabismus, but has not been associated with systemic disease.
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ranking = 1
keywords = strabismus
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8/35. Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report.

    A newborn male presented with complete external third nerve palsy of his right eye immediately at birth. Pediatric examination and MRI of the skull revealed no abnormalities. At the age of six weeks, strabismus surgery was performed to facilitate amblyopia treatment. The muscles appeared small and fibrotic. At the age of ten weeks, a brow suspension of the upper lid and a second strabismus surgery were performed. The amblyopia treatment and patching, applied for half of the waking hours over a period of six weeks, were unsuccessful. At the age of six months, a relative pallor of the right optic nerve head became evident. At the age of three years, at a new examination because of growth deficiency, a second MRI revealed defects involving the pituitary region. We concluded that extraocular muscle abnormality or oculomotor nerve palsy was present together with optic nerve dysplasia and pituitary gland malformation.
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ranking = 2
keywords = strabismus
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9/35. Bilateral inferior insertion of lateral rectus muscles associated with schizencephaly.

    A 5-year-old boy with a large V-pattern exotropia is described. He has a background of congenital left hemiparesis associated with schizencephaly. At the time of surgery the lateral recti were found to be abnormally inferiorly positioned. Accordingly, both lateral rectus muscles were recessed 6.5 mm and supraplaced. A V-pattern exotropia persisted postoperatively with clinical overaction of the inferior obliques. To our knowledge this is the first known case of extraocular muscle abnormalities associated with schizencephaly.
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ranking = 2.0332859471943
keywords = exotropia
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10/35. Anomalous medial rectus muscle insertion in a child with craniosynostosis.

    INTRODUCTION: Oblique and vertical rectus muscle anomalies have been commonly reported in patients with craniofacial syndromes, while horizontal rectus muscle anomalies have been uncommonly reported. methods: Case report of a child with Crouzon's Syndrome who was found to have an anomalous medial rectus muscle insertion at surgery. RESULTS: A bifid left medial rectus muscle insertion was found at surgery, requiring a small modification of the planned surgical procedure. CONCLUSION: Anomalies of extraocular muscles may be present in patients with craniofacial syndromes and strabismus surgeons should be prepared to modify their surgical plan when anomalous extraocular muscles are found.
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ranking = 1
keywords = strabismus
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