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

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
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PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

The prenatal diagnosis in a family carrying the Fragile Chromosome X Syndrome (sex linked mental retardation) has been performed using Recombinant DNA techniques. The use of these techniques together with cytogenetics and prenatal diagnosis using chorial biopsy, have enabled the diagnosis of the disease on a male foetus on the twelfth week of pregnancy. Similarly, we have been able to confirm the carrier state of the mother (proven) and the grand mother, and furthermore, the non affected condition of an older son to this mother. The results obtained reveal the importance of the new molecular techniques applied to the diagnosis of certain diseases with a genetic origin.
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PMID:[Prenatal diagnosis in a family carrying the fragile X syndrome using recombinant DNA technics]. 257 Apr 46

A case review of a twenty-two year old man suffering from Prader-Willi Syndrome, Secondary Functional Encopresis, mental retardation and aggressive behaviour is presented. Emphasis is made in assessing this man from various developmental perspectives. This includes: personality development, cognitive development, physical abilities, sexual development and family life stage. The role of a psychiatrist in treating this complex problem is established. An eclectic approach to treatment is reviewed using many therapeutic modalities found effective with the mentally handicapped. These modalities include: group therapy, play therapy, individual psychotherapy, behavioural therapy, family therapy, and use of medication. A literature review of Prader-Willi Syndrome is included.
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PMID:Development of a young man with Prader-Willi syndrome and secondary functional encopresis. 281 52

A sporadic case of Crouzon Syndrome without mental retardation is described. The patient, an 11 year old boy with grossly carious teeth and in severe pain was referred for dental treatment. A review of literature on Crouzon Syndrome is presented.
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PMID:Crouzon syndrome. A review of literature and case report. 297 12

An interstitial deletion of the proximal part of the long arm of the X chromosome was found in two brothers both suffering from choroideremia, congenital deafness and mental retardation. The mother was subsequently found to be heterozygous for the deletion, and to have the typical ophthalmological phenotype of a choroideremia carrier together with an elevated stapedial reflex threshold. Syndromes including choroideremia seem to be composed of characteristics which, independent of each other, occur as X-linked traits. Since this deletion covers part of the region Xq21.1-Xq21.31 it is postulated that besides the locus for choroideremia this region harbors a locus for X-linked congenital deafness and possibly a locus for X-linked mental retardation.
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PMID:Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. 343 52

The factors relevant to intractability, types of epilepsy and impairment of dexterity in patients with intractable epilepsy were studied independently in different groups of patients. The factors relevant to intractable epilepsy that were disclosed in 202 patients, who required hospitalization more than twice, were as follows: strong seizure propensity, neuropsychiatric disorders including mental deterioration of various degrees, ataxia, personality changes and psychotic episodes, intolerance to antiepileptic drugs due to acute or chronic side effects, idiosyncrasy and internal disorders, self-induced seizure, misdiagnosis and mistreatment, and breakdown of family care of patients. The types of epilepsy in 224 patients with intractable epilepsy whose seizures were not adequately controlled and recurred on a monthly basis in spite of hospitalization were classified as follows: 101 patients with localization-related epilepsies or syndromes, 106 with generalized epilepsies or syndromes, 16 with undetermined epilepsies or syndromes and one with specific syndrome. In regard to partial epilepsies, frontal lobe epilepsy and partial epilepsy with multiple foci were at least partially intractable as temporal lobe epilepsy. With respect to intractable generalized epilepsies, miscellaneous symptomatic generalized epilepsies like intractable grand mal epilepsy with progressive mental retardation in childhood were as important as Lennox-Gastaut or West syndrome though it defies classification into any established syndromes. The proposed International Classification of Epileptic Syndromes and Epilepsies was found adequate for analysis of intractable epilepsy. The disturbance of fine motor performance found in 84 patients who participated in occupational therapy was investigated by test programs comprising nine subbatteries.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Intractable epilepsy and disturbed visuomotor performance. 344 32

Gastroesophageal reflux (GER) in the pediatric patient is a frequently recognized problem. Unlike the adult, in whom symptoms relating to esophagitis predominate, the infant and child may present with a variety of respiratory problems, vomiting and/or growth failure. GER is often seen in association with other conditions and must be considered in the evaluation of any pediatric patient with chronic recurring respiratory problems, vomiting or failure to thrive (FTT). Thirty-eight pediatric patients have been surgically managed at West Virginia University from 1977-1983 for GER. The patients fall into several different patterns of presentation and associated problems. Nine premature infants all with bronchopulmonary dysplasia (BPD) have undergone fundoplication for FTT, worsening BPD, and pneumonia. Seven infants and two older children had GER associated with previous esophageal atresia repairs. Esophagitis, vomiting and growth failure were the predominant complaints in this group, though all nine patients had recurring respiratory symptoms as well. Syndromes involving mental retardation and neurologic dysfunction affected another group of five patients, all of whom presented with the complications of long-term esophagitis. The remaining 15 children were otherwise healthy infants who had predominantly respiratory symptoms due to GER. The benefits of fundoplication in these severely affected infants and children far outweigh the relatively few complications. In the carefully selected patient, surgical management of GER is dramatically successful.
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PMID:Patterns of pediatric gastroesophageal reflux. 398 87

We report on a family in which two of the three children (girl and boy) have a MCA/MR syndrome consisting of peculiar facies, retarded psychomotor development, mental retardation, congenital heart defect, kyphoscoliosis, diastasis recti, and cryptorchidism in the boy. This syndrome is quite similar to that of the only family previously described and which was denominated McDonough Syndrome. The syndrome is delineated and autosomal recessive inheritance is suggested as the most likely etiology. A balanced translocation (X; 20) in the affected boy and in the unaffected mother was a coincidental finding.
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PMID:Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation. 614 15

Difficulties of differential diagnosis between Prader-Willi Syndrome and Cohen Syndrome are demonstrated in a 12-year-old girl with obesity and mental retardation. Cytogenetic studies showed an apparently supernumerary band on chromosome 15 in the proximal region q11-13. Both parents have a normal karyotype. The aberrant chromosome was derived from an apparently normal paternal chromosome.
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PMID:Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome? 671 11

We investigated the urinary tract in 19 out of 30 children having the Williams-Beuren-Syndrome. 14 of these children showed all signs of the syndrome, whereas 8 children had only the typical cardiological findings without the pathognomonic facies and without major mental retardation. These two different types will be designed as type I and type II respectively. In 12 of the children belonging to type I there were anomalies of the kidneys and the lower urinary tract including 1 child having nephrocalcinosis. The various anomalies were found as single or combined lesions. As for type II there was only 1 child (out of 5) that showed a stenosis of the urethra and at the origin of the ureter in combination with a hydronephrosis. The frequency of anomalies of the urinary tract appears to be very high in type I. However, because of the small number of patients it is impossible to reach statistical significance in comparing the different frequencies within type I and type II. Further investigations are necessary to clarify the problem.
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PMID:[Syndrome of supravalvular aortic stenosis (Williams-Beuren syndrome) in association with changes in the kidney and efferent urinary tract]. 672 79


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