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

3 cases of the 18q- syndrome, 2 boys and 1 girl, are presented, and a comparison with data from the literature is given. The following features are typical of the syndrome: short stature, mental retardation, muscular hypotonia, a peculiar dysmorphia of the face and ears, cryptorchidism and small scrotum in males, proximally implanted thumbs, tapering fingers, excess of whorls on the fingertips, and dorsally implanted second toes. Midface hypoplasia with hypertelorism and cleft palate, as well as strabismus, were present in 2 of our patients, whereas all 3 showed nystagmus and prominence of anthelix and antitragus. In addition, 2 patients exhibited narrow ear canals and impaired hearing. One patient had coloboma of the iris and choroid, pale optic discs, and cleft lip; another had umbilical and inguinal hernias. Two cases represented de novo deletions of the long arm of chromosomes 18, whereas the karyotype of the father of third case revealed a balanced translocation t(15;18)(q24;q21).
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PMID:Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases. 111

Few guidelines have been advanced for the management of brain damaged children with strabismus. Conservative therapy with lenses, prisms, occlusion, atropine and late surgery has been suggested but without specific methods or ages being advocated. The authors undertook the treatment of these children utilizing the standard principles of strabismus therapy as applied to neurologically normal children. A further consideration is a satisfactory cosmetic appearance which wins greater self, peer and parental acceptance in these handicapped children. The results of therapy of this series of patients with cerebral palsy indicates that satisfactory alignment can be achieved in the majority even in the presence of severe motor involvement and/or mental retardation. Ninety percent of those patients with treated accomodative esotropia achieved a satisfactory alignment. Those patients with non accommodative esotropia had a satisfactory alignment in 77% of the patients operated upon and those with exotropia achieved this result in 86% of the patients operated upon. Only five (2%) patients spontaneously reduced their angles to cosmetically acceptable ranges. Overcorrections occurred in 10 (11%) patients in the surgically treated nonaccommodative esotropes and 4 (3%) of these patients required further corrective surgery. Only one exotropic patient was rendered esotropic postoperatively. The average age of initial surgery in the esotropic patients was 3.9 years and 5.7 years in the exotropic patients. The older ages for surgical intervention reflects the more conservative approach to these neurologically abnormal children and allow an increased time interval for the development of a stable preoperative oculomotor alignment.
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PMID:Current concepts in the management of strabismus in children with cerebral palsy. 114 6

The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pigmented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.
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PMID:Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood. 124 72

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

The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth, hypothyroidism and liver steatosis. Increased serum glycoprotein-deficient transferrin is a marker of the disease and confirms the diagnosis. We describe four Norwegian children with this syndrome. Olivopontocerebellar degeneration was found upon examination of the brain in two patients who died.
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PMID:[The carbohydrate deficient glycoprotein syndrome]. 1044 Oct 90


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