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

Mandibulofacial dysostosis, mental retardation, skeletal, genital, and ocular malformations occurred in a family with partial trisomy of the long arm of chromosome 2. Translocations of chromatin material from the long arm of chromosome 2 to the short arm of chromosome 9 was balanced in the female carriers of the pedigree but was unbalanced among the males. Ocular signs in the males included uveal coloboma, anterior chamber angle anomalies as in Ringer's syndrome, congenital glaucoma with dislocated lens, exotropia, and blepharoconjunctivitis. These findings were related to an inherited malformation syndrome.
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PMID:The eye in the partial trisomy 2q syndrome. 88 94

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

We studied 10 members of a 4 generation Missouri kindred with a dominant mental retardation syndrome with increasing severity in males. The 21 year-old propositus presented with severe mental retardation, microcephaly, asymmetric face, exotropia, hypogonadism, joint hypermobility, rocker bottom feet, and 10 low digital arches. Two brothers and a male cousin had similar features. The mother, sister, niece, maternal aunt, female cousin, and grandmother were examined and each had 8 to 10 low digital arches. Five of the women had exotropia and one had pes cavus feet. Chromosome analysis for fragile X in multiple relatives was normal. To determine the likelihood that this was an X-linked syndrome. DNA from relatives was hybridized to probes which detect 13 different loci spanning the X-chromosome. A peak LOD score of 2.78 at theta equal to 0.0 was calculated for the syndrome locus and DXYS1 (pDP34). The more distal Xq loci showed increasing recombination with the syndrome locus. These results are consistent with location for this syndrome near Xq21.31, the chromosomal locus for DXYSI.
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PMID:Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. 201 61

Charts of all infantile esotropes who received their primary surgical procedure at the North Carolina Memorial Hospital, between February 1978 and June 1984 were reviewed. Neurologic problems (general and ocular) were identified in 29 of the 47 patients (61.7%) followed a minimum three months (mean = 25.0 +/- 2.9 mos). Frequent general neurologic problems were prematurity, hydrocephalus, mental retardation, cerebral palsy, meningomyelocele, intraventricular hemorrhage, and seizures (neonatal and/or postnatal). Abducens nerve palsy was the most common ocular neurologic impairment. Neurologic impaired esotropes were older (mean = 31.9 +/- 3.8 mos) than the "normal" group (mean = 17.0 +/- 3.3 mos) at the time of surgery. Recession/resection procedures were performed on 13 (44.8%) of the neurologically impaired and nine (50.0%) of the normal esotropes. Bimedial recessions were employed on 12 (41.4%) of the patients with neurologic problems and seven (38.8%) of the normal esotropes. Unilateral medial recessions and/or inferior oblique recessions were performed on six patients. At last follow-up, orthophoria (+/- 10 delta) was present in 16 (55.2%) neurologically impaired patients and 15 (83.3%) normal esotropes (p less than 0.05 by the normal deviate (z) test). Seven (24.1%) neurologically impaired patients had residual esotropia, while consecutive exotropia was present in six (20.7%) patients. Among normal esotropes, residual esotropia was found in one patient and consecutive exotropia in two (11.1%) patients. DVD's occurred in nine patients while four subjects developed a postoperative accommodative component.
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PMID:Infantile esotropia: results in the neurologic impaired and "normal" child at NCMH (six years). 395 Aug 44

Mitochondrial encephalomyopathy is a hereditary syndrome showing impairment of muscle and the central nervous system. In this disorder, the following three syndromes have been identified on the basis of characteristic symptoms: Kearns-Sayre syndrome (KSS), mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes (MELAS), and myotonic epilepsy with ragged-red fibers (MERRF). In this report, we describe a case of mitochondrial encephalomyopathy with renal disease. A 25-year-old man was referred to our hospital in May, 1992 for evaluation of long-standing proteinuria. He had a small stature, exotropia and no pretibial edema. No mental retardation was observed. Urinary protein excretion was 2.0 g/day and urine sugar was negative. Laboratory examination revealed a serum urea nitrogen 19 mg/dl, and a creatinine value of 1.5 mg/dl. Creatinine clearance was 45.8 ml/min. His serum and spinal fluid lactate value were elevated. Biopsied muscle showed an absence of ragged-red fibers, and the presence of an A-to-G point mutation at nucleotide pari 3243 in the mitochondrial tRNA(Leu(UUR)) in peripheral blood leucocytes. He was thought to have MELAS. On the renal biopsy specimens, light microscopic examinations showed minor glomerular abnormalities with two glomerular collapses and tubulo-interstitial damage. Electron microscopic examinations showed partial thickening of the glomerular basement membrane. We report here this rare case of MELAS with renal disease, and also review seventeen cases of mitochondrial encephalopathy associated with renal disease. The existence of a relationship between mitochondrial disorder and renal damage remains obscure.
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PMID:[A case of mitochondrial encephalomyopathy (MELAS)]. 871 14

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

We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, kyphoscoliosis, and mental retardation. A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new syndrome.
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PMID:Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. 1116 62

PURPOSE. The purpose of this study was to investigate the ocular, facial and radiological signs of Crouzon's syndrome in a group of older patients who had not undergone previous craniofacial surgery. METHODS. Six cases of Crouzon's syndrome, four of whom belonged to a three-generation family, were examined systemically, ophthalmologically and roentgenographically; five of these cases were additionally evaluated with computed tomography and compared with Apert syndrome. RESULTS. On radiologic evaluation, all cases had synostosis of all cranial sutures and fontanelles and brachycephalic skulls, crowding of the upper teeth due to maxillary hypoplasia, and serious nasal septum deviation. Bilateral ethmoidal, maxillary and sphenoidal chronic sinusitis was found in 50% of cases. Three patients had hypertelorism and two others had a tendency toward hypertelorism. The typical facial appearance with shallow orbits, globe protrusion and exorbitism was present in all cases. Two of them had V-pattern exotropia while the other four were orthophoric. The single case with mental retardation had bilateral cataract. CONCLUSION. Crouzon's syndrome can present with different findings and must be evaluated multidisciplinarly.
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PMID:Evaluation of findings in Crouzon's syndrome. 1204 69

Defects in the assembly of dolichol-linked oligosaccharide or its transfer to proteins result in severe, multi-system human diseases called Type I congenital disorders of glycosylation. We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1. The patient presents with severe hypotonia, medically intractable seizures, mental retardation, microcephaly, and exotropia. Metabolic labeling of cultured dermal fibroblasts from the patient with [2-(3)H]-mannose revealed lowered incorporation of radiolabel into full-length dolichol-linked oligosaccharides and glycoproteins. In vitro enzymatic analysis of microsomal fractions from the cultured cells indicated that oligosaccharyltransferase activity is normal, but the GPT activity is reduced to approximately 10% of normal levels while parents have heterozygous levels. The patient's paternal DPAGT1 allele contains a point mutation (660A>G) that replaces a highly conserved tyrosine with a cysteine (Y170C). The paternal allele cDNA produces a full-length protein with almost no activity when over-expressed in CHO cells. The maternal allele makes only about 12% normal mature mRNA, while the remainder shows a complex exon skipping pattern that shifts the reading frame encoding a truncated non-functional GPT protein. Thus, we conclude that the DPAGT1 gene defects are responsible for the CDG symptoms in this patient. Hum Mutat 22:144-150, 2003.
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PMID:Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. 1287 55

A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenital anomalies was found to have a de novo proximal interstitial deletion of chromosome 7q21.1-q22. The patient was 10.5 years of age, and manifestations include growth retardation (below 3rd percentile), mental retardation, mild microcephaly, hypersensitivity to noise, mild spasticity, short palpebral fissures, alternant exotropia, compensated hypermetropic astigmatism, hypotelorism, hypoplastic labia majora and minora, clinodactyly of fingers 4 and 5. Molecular studies revealed that the deletion had a paternal origin, while chromosomes of both parents cytogenetically were shown to be normal. Molecular, and fluorescence in situ hybridization (FISH) analyses confirmed no deletion at the Williams-Beuren Syndrome region. Some of the heterogeneous clinical findings were consistent with previously reported cases of same chromosomal breakpoints.
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PMID:A case with de novo interstitial deletion of chromosome 7q21.1-q22. 1608 Feb 95


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