Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomies of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.
 ...
PMID:Deletions of the long arm of chromosome 6: two new cases and review of the literature. 388 54

Charts of all infantile esotropes who received their primary surgical procedure at the North Carolina Memorial Hospital, between February 1978 and June 1984 were reviewed. Neurologic problems (general and ocular) were identified in 29 of the 47 patients (61.7%) followed a minimum three months (mean = 25.0 +/- 2.9 mos). Frequent general neurologic problems were prematurity, hydrocephalus, mental retardation, cerebral palsy, meningomyelocele, intraventricular hemorrhage, and seizures (neonatal and/or postnatal). Abducens nerve palsy was the most common ocular neurologic impairment. Neurologic impaired esotropes were older (mean = 31.9 +/- 3.8 mos) than the "normal" group (mean = 17.0 +/- 3.3 mos) at the time of surgery. Recession/resection procedures were performed on 13 (44.8%) of the neurologically impaired and nine (50.0%) of the normal esotropes. Bimedial recessions were employed on 12 (41.4%) of the patients with neurologic problems and seven (38.8%) of the normal esotropes. Unilateral medial recessions and/or inferior oblique recessions were performed on six patients. At last follow-up, orthophoria (+/- 10 delta) was present in 16 (55.2%) neurologically impaired patients and 15 (83.3%) normal esotropes (p less than 0.05 by the normal deviate (z) test). Seven (24.1%) neurologically impaired patients had residual esotropia, while consecutive exotropia was present in six (20.7%) patients. Among normal esotropes, residual esotropia was found in one patient and consecutive exotropia in two (11.1%) patients. DVD's occurred in nine patients while four subjects developed a postoperative accommodative component.
J Pediatr Ophthalmol Strabismus
PMID:Infantile esotropia: results in the neurologic impaired and "normal" child at NCMH (six years). 395 Aug 44

Neurological examinations were made of 67 children and adults with congenital iodine-deficiency disorder (endemic cretinism) in four rural villages in highland Ecuador. There was a distinct and readily identifiable pattern of neurological deficits. These included, to varying degrees: deaf-mutism or lesser degrees of bilateral hearing-loss or dysarthria; spasticity, particularly involving the proximal lower extremities; mental deficiency of a characteristic type; and rigidity and bradykinesia. Not all of these elements were found in all cases. Less common features were strabismus, kyphoscoliosis and frontal-lobe signs. There were exceptional cases with hypotonia. In contrast, cerebellar function was largely spared, as were functions of emotion and attention, vegetative and autonomic functions, social interaction, and probably memory, except in the most severely involved.
 ...
PMID:Neurological signs in congenital iodine-deficiency disorder (endemic cretinism). 401 26

A new case of 9 p trisomy is reported in a 7-month-girl having typical morphological abnormalities and a mental retardation. During the examination, unusual ocular abnormalities were observed: pigmented linear dots of the mid peripheral retinal. Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed.
 ...
PMID:[Unusual ocular anomaly in 9 p trisomy: retinal depigmentation]. 403 67

The development of human clinical cytogenetics has been comparatively recent. The authors made an analytical study of chromosomes in patients presenting ocular coloboma with mental deficiency, strabismus with malformation, and other disorders in order to define the genetic aspect of these diseases. They obtained in these patients chromosomal alterations, including translocation, aneuploidies, suggesting the importance of cytogenetic analysis in eye affections even if these are considered of monogenic character.
 ...
PMID:Cytogenetics in ophthalmology. 406 94

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.
 ...
PMID:An oculocerebrofacial syndrome. 500 10

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
 ...
PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

In a study of congenital cataract in northern India, 76 patients (146 eyes) were evaluated for morphological patterns and etiology. Partial cataracts were found to be three times more common than total cataracts, the lamellar types being the most common among the partial cataracts. Hereditary cataracts had a 19.7% incidence. The majority (46.05%) of cases of congenital cataract were of idiopathic origin. A few cases were associated with metabolic disorders (Marfan's and Marchand's). Strabismus and nystagmus were the most common associated ocular abnormalities (28.94% and 15.79%), and mental retardation was the most commonly associated systemic abnormality. Rubella cataract was seen far less frequently than expected.
J Pediatr Ophthalmol Strabismus
PMID:Congenital cataract: etiology and morphology. 641 11

The records of 469 institutionalised mentally retarded subjects were examined. Keratoconus and blindness were present in 8 per cent and 4 per cent of the ninety-one subjects with Down syndrome. Only one case of keratoconus was found among the 378 subjects with mental deficiency of other aetiology. The incidence of strabismus, nystagmus and cataract was also increased in subjects with Down syndrome, especially in females. Cases of acute keratoconus associated with Down syndrome reported in the world literature are summarised. A total of about forty cases has ben reported between the ages of nine and fifty-three years. Sight has been preserved equally well after both conservative management and keratoplasty in eyes with and without cataracts.
 ...
PMID:Keratoconus and blindness in 469 institutionalised subjects with Down syndrome and other causes of mental retardation. 646 Jan 9

The visual outcome in cases of congenital cataract, managed both surgically and conservatively, is outlined. Final vision was better in cases with partial cataract, about 40% of whom attained 6/24 or better vision. With total cataracts, none could achieve this level of vision, with the majority (84%) attaining only 6/60 or less acuity. Visual results were also better in patients without nystagmus, 34% of whom attained 6/24 or better vision, while in cases with nystagmus, only 15% could come up to this level. Cataracts necessitating early surgery had a worse prognosis than cataracts necessitating late surgery. Visual results were best in cases with bilateral cataracts, partial cataracts, absence of associated ocular anomalies, the absence of nystagmus and in patients requiring later surgery. The important causes of nonimprovement of vision were amblyopia and after-cataract. Retinal detachment, retinopathy, and degenerative myopia were some of the less frequent causes of poor vision, while mental retardation was another important factor. Full cooperation from the parents is absolutely essential in the proper visual rehabilitation of the handicapped child.
J Pediatr Ophthalmol Strabismus
PMID:Congenital cataract: management and results. 664 86


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>