Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A characteristic syndrome is described in which congenital sensori-neural deafness is associated not only with onychodystrophy but also with congenital bony anomalies the most characteristic of which are tri-phalangeal thumbs, bi-phalangeal digits of hands and feet, and dystrophic terminal phalanges of some of the fingers and toes. In addition, there is mental retardation and the dermatoglyphics are characterized by the presence of 10 arches and elevation of the atd angles. The syndrome is inherited as an autosomal recessive. It is suggested that this entity be named the D.O.O.R. Syndrome because of the deafness, onychodystrophy, osteodystrophy and retardation. A similar syndrome without retardation as described by Goodman et al. (1969) appears to be inherited as an autosomal dominant.
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PMID:Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome). 113 83

Twenty-seven infants with cytomegalovirus hepatitis were followed up for 15-40 months after onset of the illness. They had recovered from the hepatitis, but microcephaly was present in 2 (7.4%), sensorineural hearing loss in 5 (18.5%), quadriplegia, mental retardation, ventricular septal defect and tooth defects in 1 (3.7%) each. The patients with congenital infection had more severe and complex defects, some with perinatal infection had mild defects, those with postnatally acquired infection had no sequelae. The mean MDI and frequency of expressive language delay in the former group differed significantly from those of the other 2. Five patients still excreted cytomegalovirus in the urine at follow-up.
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PMID:Effects of cytomegalovirus hepatitis on growth, development and nervous system of infants. A follow-up study. 165 27

Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bilateral profound sensorineural hearing loss, blindness, and mental retardation are described. The inner ears showed marked atrophy of the stria vascularis, severe degeneration of hair cells and cochlear neurons, and connective tissue proliferation in the spiral ganglion, osseous spiral lamina, and walls of the membranous vestibular labyrinth. The eyes showed detached retinae, dense proliferation of fibrillary glial cells in the retina and vitreous, severe atrophy of the optic nerves, and degenerative hyalinization of blood vessels. This case is the first published report of the histopathology of the inner ear in Norrie's disease.
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PMID:Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration). 234 94

We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among other family members. This syndrome is one of the many neurocutaneous syndromes and does not seem to fit any of the previously published descriptions.
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PMID:[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome]. 240 Jan 94

Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non-opposable. The latter appears to be inherited as a simple autosomal dominant trait, while the former is generally sporadic. TPT is associated with a number of specific malformations of the hand or foot, several of which have a well documented autosomal dominant pattern of inheritance. TPT is a feature of a number of specific syndromes. In this setting it may be associated with radial hypoplasia, bone marrow dysfunction, congenital heart disease, lung hypoplasia or agenesis, anorectal malformations, sensorineural hearing loss, onychodystrophy, mental retardation, and other disorders. TPT serves as a useful marker in such patients; in conjunction with the clinical and radiological findings, it can help to establish the correct diagnosis, leading to appropriate management and genetic counselling.
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PMID:Triphalangeal thumb. 305 97

Tapetoretinal degeneration is not infrequently associated with other systemic abnormalities. The authors have examined an 11-year-old girl with severe pigmentary degeneration of the retina associated with severe musculoskeletal abnormalities, growth failure, recurrent respiratory problems, sensorineural hearing loss, and mental retardation. To the best of their knowledge, this constellation of features has not been described previously and probably represents a new clinical entity.
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PMID:Tapetoretinal degeneration associated with multisystem abnormalities. A case report. 356 49

A rare case of facioscapulohumeral muscular dystrophy with an early onset and progression is described. The patient had mental retardation, sensorineural hearing loss, and marked tortuosity of the retinal arterioles. On reviewing previous reports of related cases, our case and those of Small shared similar clinical manifestations, although the retinal findings in our patient were different from the typical Coats' disease of Small's patients. However, we postulate that these cases represent a specific nosological entity, although genetic transmission has yet to be proven.
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PMID:Facioscapulohumeral dystrophy associated with mental retardation, hearing loss, and tortuosity of retinal arterioles. 359 27

We report a 21-year-old white male with Kallman's syndrome (gonadotropic hypogonadism, hyposmia and sensorineural hearing loss) with extensive brain calcification, demonstrated for the first time by computed tomography. The pattern and anatomic distribution of the extensive brain calcification is nonspecific, being indistinguishable from those seen in other causes of brain calcification (principally diseases related to a disturbance in calcium metabolism), despite the normal serum calcium levels found in this patient. This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, tuberous sclerosis, carbonic anhydrase II deficiency, congenital mental deficiency and idiopathic familial basal ganglia calcification as another developmental cause of brain calcification, which usually show no disturbance in serum calcium level.
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PMID:Brain calcification in Kallman's syndrome. Computed tomographic appearance. 384 25

The population screened for mental retardation consisted of 12,882 children, 8 years old. One hundred and fifty-one mentally retarded children were clinically studied. No borderline case was included. One hundred and one children were randomly chosen to form a control group. On clinical examination the children were 9-10 years old. Tympanograms were obtained from 206 children (81.8%). The tympanograms in respect to 30.9% of ears were classed as abnormal in the case of mentally retarded children, but in only 17.8% of non-retarded children. The difference is statistically significant (P less than 0.01). Pure tone audiometry was performed in 213 children. Thirty children were tested in open sound field, and 9 children remained untested. The examinations revealed 31 children with decreased hearing sensitivity (24 with conductive impairment, 7 with sensorineural hearing loss). Three children with profound sensorineural hearing loss and 21 with conductive impairment were among the mentally retarded. The threshold values were also examined using two-way analysis of variance. The groups were classified according to findings in psychological tests and according to the clinical findings in relation to the tympanic membrane. These two sets of findings constituted the two independent variables. These two factors had a highly significant (P less than 0.001) effect, but their interaction was not significant. Mentally retarded children clearly have middle ear disease much oftener than non-retarded children, and such ear disease is accompanied by decreased hearing sensitivity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Ear disease and hearing sensitivity in mentally retarded children. 662 51

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).
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PMID:Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. 677 1


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