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)

A case with Prader-Willi syndrome (P.W.S.) is reported. The patient manifests: obesity, hypogonadism, hypotonia, mental retardation, small hands and feet, prominent forehead, bitemporal narrowing, strabismus, hypoplastic teeth, generalized caries and thick, sticky saliva. The patient is presented at two different ages (10 and 14), and the development of the characteristics of the syndrome is described. Emphasis is given to the oral findings especially to the generalized caries, that led to an almost complete destruction of the teeth. The role of the dentist is considered to be important for the control of the dental problem of this syndrome.
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PMID:Prader-Willi syndrome: report of a case with special emphasis on oral problems. 129 Jul 59

Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference less than 10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A "triangular" face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.
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PMID:Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. 141 51

A case of unusual dental findings associated with mild growth and mental retardation is presented. The patient, a 15-year-old girl, manifests small teeth with peculiar short bulbous roots and roundly widened root canals, congenital absence of permanent teeth, strabismus, short stature, and borderline mentality.
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PMID:Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality. 150 16

Between January 1982 and June 1989 in South Australia 19 infants under 2 years of age have had serious sequelae following an apparent life threatening event (ALTE) for which no cause could be identified. Thirteen of these children have died, four survive with severe hypoxic damage, one has normal psycho-motor development and epilepsy, and another has mental retardation and strabismus. Study of these infants suggests heterogeneity in the cause of both sudden infant death syndrome (SIDS) and ALTE, and occasional links between the two.
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PMID:Apparent life threatening events with serious sequelae in infants and young children. 156 65

The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
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PMID:Short stature, mental retardation, eye anomalies, and cleft lip/palate. 160 26

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

Variable angle strabismus can be inward (esotropy) or outward (exotropy) or vary from esotropy to exotropy. Mental retardation has been found to be related to strabismus in 50% or more of the cases and 35% of these had variable angle strabismus. A total of 61 patients with variable angle strabismus were studied finding 55.7% with esotropy, 36% exotropy and 8.2% varying from esotropy to exotropy. Of those under study, 64% were females and 77% under five years old. No accommodative factors were found in any of the patients. The best results were obtained through surgery (recession plus Faden) previous rehabilitation.
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PMID:[Variable angle strabismus and its relation to poor vision and psychomotor retardation]. 209 36

An ophthalmological study was conducted on a series of 28 Swedish children suffering from mild mental retardation without an obvious aetiological diagnosis. The eye examination supported a diagnosis of foetal alcohol syndrome in five out of six suspected cases and revealed two additional not previously suspected (25%). Eye anomalies were observed in 16 patients (57%) with fundus abnormalities (optic nerve hypoplasia, retinal dystrophy) being most frequent, occurring in 11 cases (39%). Four patients had substantially reduced visual acuity in both eyes. Eight children had abnormal features of the face and outer eye region. Ocular motility disturbances (strabismus or nystagmus) were seen in five patients. The ophthalmological study disclosed that at least 10% of this group of children with mild mental retardation suffered from the foetal alcohol syndrome. It is concluded that, in children with mental retardation, an ocular examination is a valuable diagnostic tool for revealing prenatal origin.
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PMID:Contribution of ocular examination to the diagnosis of foetal alcohol syndrome in mentally retarded children. 226 51

Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.
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PMID:Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. 231 77

Cerebral palsy is a permanent and non-progressive brain damage due to various causes affecting a child from the intrauterine life up to the first two years of life. Its most common cause is neonatal hypoxic encephalopathy. The cerebral damage is diffuse so that it is commonly associated with epilepsy, mental retardation, dysarthria, hearing loss and oculomotor abnormalities. Strabismus is found in 50% of children with cerebral palsy. This prevalence is significantly different from the 2% incidence of oculomotor abnormalities in the pre-school age, it is noteworthy that strabismus and refractive errors respond to the classical therapeutic measures.
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PMID:[Physiopathology of ocular movements in infantile cerebral paralysis]. 270 64


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