Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The long-term effects of intrauterine transfusion (IUT) are still being assessed since the procedure was first reported in 1963. Therefore, we undertook a follow-up study on the survivors of 57 infants who received IUT's between 1966 and 1975. Forty-two infants were born alive, but 15 died in the neonatal period. Overall survival was 27/57 (48%). An extensive follow-up examination was carried out at age 22 months to 10 years in 21/27 survivors. Height was below the third percentile in one child and head circumference above the mean and 2 SD in another. Of 21 children, 19 had normal vision, one was slightly myopic, and one had hyperopia. One child had unilateral high-frequency hearing loss. All had normal EEG's and none have mental retardation but 2/21 have "major" and 6/21 have "minor" neurologic signs. No evidence of passive antibody transfer was found, but minor disturbances of immunoglobulin levels were present.
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PMID:Follow-up of intrauterine transfused surviving children. 43 82

Fragile X syndrome (fra X) is one of the most significant discoveries in the area of mental retardation in the past 2 decades. Although hundreds of articles and two text-books have been written on the subject, only two studies have been published in the ophthalmic literature. This paper provides a brief review of the syndrome and reports on the ocular findings of 30 subjects with this genetic abnormality. We found that 30% of the subjects exhibited strabismus. Of those with strabismus, 70% were esotropes. Fifty-nine percent of the eyes evaluated (N = 58) showed hyperopia of +1.00 D or greater, 17% myopia of -1.00 D or greater, and 22% had at least 1.00 D of astigmatism. Major ocular health abnormalities were not identified in any of our subjects. The optometrist, as the primary eye care provider, should diagnose and treat these oculo-visual dysfunctions.
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PMID:Optometric findings in the fragile X syndrome. 192 41

A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.
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PMID:Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome. 892 50

Cockayne's syndrome is a very rare autosomal recessive affection. Ocular involvement is an essential element for positive diagnosis; the retina shows a typical salt and pepper retinitis with optical atrophy. We report a family with four brothers who had Cockayne's syndrome with unusual retinal involvement. The patients' parents were first cousins. Ophthalmologic examination of the mother showed unilateral left pigmentary retinopathy localized in the peripapillary region. The father's ophthalmological examination was normal. The four brothers presented disharmonious dwarfism, cutaneous hyperpigmentation of skin areas exposed to sun with old-appearance of the skin, sensorineural deafness, kyphoscoliosis, a cerebellar syndrome and mental retardation. The ophthalmological examination showed hypermetropia in all four brothers and bilateral maculopathy with no papillary or vascular abnormalities. The electroretinogram was in favor of cone dystrophy. Computed tomography showed one case of calcifications of the basal ganglia and cerebral atrophy. The karyotypes of the four brothers and the mother were normal. We discuss the ocular symptoms and the etiopathogenesis of this syndrome.
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PMID:[Cockayne's syndrome with unusual retinal involvement (report of one family)]. 1066 Jun 49

We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion.
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PMID:Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. 1653 64

Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental retardation, mildly dysmorphic facial features, obesity, hypermetropia and additional hair anomalies (low dorsal hair line on the neck, lumbosacral hypertrichosis). Karyotype and array comparative genomic hybridization analysis at 1 Mb resolution were normal.
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PMID:Anterior cervical hypertrichosis and mental retardation. 1676 Jul 44

Down's syndrome is the commonest cause of mental retardation worldwide. In Nigeria, persons with Down's syndrome remain largely stigmatised and neglected. There is a dearth of literature on the ocular health status of Nigerian subjects with Down's syndrome. To determine the ocular health status of Nigerian subjects with Down's syndrome in 4 special schools in Benin City, Nigeria, one hundred and forty four subjects with Down's syndrome had external ocular examination, visual acuity testing and Ophthalmoscopy in a school setting. Majority of the subjects had poor visual acuity of 6/18 or worse (59.0%), in at least one eye. There was a high incidence of refractive errors. Hyperopia was present in 29.2% of subjects; Astigmatism 22.2%; Myopia 6.3%; Strabismus 18.1%; Nystagmus 4.2% and cataracts in 2.8%. Liberal early use of corrective lenses is advocated in persons with Down's syndrome. Community based enlightenment programmes to encourage parents of children with Down's syndrome to bring their children for ocular examination early, preferably in infancy, and to enrol the children in a continuous ocular screening programme need be put in place. This will go a long way in improving their intellectual abilities, quality of life and life expectancy.
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PMID:Ocular health status of subjects with Down's syndrome in Benin City, Nigeria. 1731 46

Mental retardation also known as 'mentally handicap' means a delay or insufficient development of mental capacities. The prevalence of mental retardation in Nepal is 4.1%. Vision being the best sense for their education and daily activities, a cross-sectional and descriptive study was conducted to find out the refractive error among the students in the schools for mentally retarded people. A total of 134 clinically diagnosed cases of mentally retarded students from three different schools of Kathmandu Valley were examined. Distance visual acuity was taken with the help of Cat Ford Vision Drum, SG chart and Kay Picture Test method but first preference was given to SG chart. Cyclo-retinoscopy and fundus examination under mydriasis were done in all the cases. Examination revealed that more than half of the examined had one or more ocular disorders with refractive error being the most common type of ocular morbidity followed by ocular motility disorders. Refractive errors were found in 34.4% in which the most common type of refractive error was simple hypermetropia. In conclusion refractive error was seen commonly among mentally retarded people of Kathmandu Valley.
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PMID:Prevalence of refractive error in mentally retarded students of Kathmandu Valley. 1829 17

We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.
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PMID:A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. 2202 66

Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy.
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PMID:Retinal involvement in two unrelated patients with Myhre syndrome. 2268 61


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