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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases with mental retardation, kyphosis, microcephalus, typical facial features, and eye anomalies had a previously undescribed recombinant chromosome change with duplication 2(q34; qter) secondary to paternal inversion 2(pter; q34). Eye findings consisted of reduced vision, myopia, nystagmus, iris defects and fundus lesions. Deformed optic discs were found in both patients and the retinal nerve fiber layer was thinner than normal.
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PMID:Eye findings in partial trisomy 2q. 393 18

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.
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PMID:An oculocerebrofacial syndrome. 500 10

A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.
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PMID:A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). 517 48

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.
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PMID:Congenital cataract: management and results. 664 86

Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism, optic nerve pallor, and irregular grayish subretinal mottling. Case 1 showed additional features of posterior staphyloma, dragged papillomacular vessels, peripheral grayish-white discoloration of the retina, and rete mirabile as well as abnormal vascular anastomosis.
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PMID:Ocular manifestations of congenital muscular dystrophy (Fukuyama type). 665 Nov 32

Significant alcohol ingestion during pregnancy can cause a spectrum of malformation of various degrees of severity in offspring. The full expression of "fetal alcohol syndrome" includes reduced growth, facial anomalies, and mental retardation. Affected infants are usually of near-term gestation, but small in weight and length. They continue to exhibit decreased growth postnatally. Mental retardation appears to be related to the degree of dysmorphic severity of appearance. It is primarily caused by central nervous system pathology rather than social environment. The most prevalent ophthalmologic finding in our series of a short horizontal palpebral fissure appears to be due primarily to a marked increased in intercanthal distances between the medial canthi (primary telecanthus) and to less extent mild displacement of the lateral canthi. Ptosis, often asymmetric, was noted in a number of patients. Comitant convergent strabismus was present in about 50% of our cases; a few had amblyopia. An important observation was the frequent and often high degree of myopia in these children. Low-incidence anomalies include corneal opacities (Peters anomaly in one), cataract, tortuosity of retinal vessels, and long eyelashes. Our findings plus many observations in the literature establish that children with fetal alcohol syndrome are at considerable risk for a variety of eye problems.
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PMID:Fetal alcohol syndrome. 726 59

We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.
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PMID:Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. 776 66

A 15-year-old girl and her 13-year-old brother had high myopia, mottled retinas with nonrecordable electroretinographic responses OU, and mental retardation. Both siblings had normal pupillary reactions to light, normal levels of serum amino acids, no nystagmus, no obesity, and no polydactyly. A consanguineous marriage of the patients' parents was found. We believe that the association of high myopia, retinal dystrophy, and mental retardation noted in these siblings may be uncommon.
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PMID:High myopia, retinal dystrophy, and mental retardation in siblings. 801 Jul 2

We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.
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PMID:Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. 859 49

We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. [Am J Med Genet 51:586-590, 1994] supports their suggestion that these patients are representative of a distinct entity.
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PMID:X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. 882 49


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