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 10-year-old retarded child was seen by an ophthalmologist because of strabismus. Examination of the optic nerve heads revealed cupping consistant with glaucoma and initiated a referral. The appearance of this girl, with flat-broad based thumbs and toes, small head, low set ears, high arched brows, antimongoloid slant to the eyes, high arched palate, associated with mental retardation, and strabismus suggested the Rubinstein-Tabyi Syndrome. Gonioscopy revealed a high iris insertion, while tonometry indicated mildly elevated pressures in the right eye. Examination of the optic nerve heads showed large glaucomatous type cups, more so on the right with compromise of the temporal rim. Trabeculectomy was effective in controlling the intraocular pressure in the right eye. The association of juvenile glaucoma with the Rubinstein-Taybi Syndrome requires that ophthalmic referral to assess glaucoma be an essential part of the evaluation.
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PMID:Juvenile glaucoma in the Rubinstein-Taybi syndrome. 101 93

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

The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.
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PMID:Goiter and deaf mutism. 121 96

The obesity-Cerebral-Ocular Syndrome is an uncommon disorder which closely resembles the Laurence-Moon-Biedl-Syndrome. It is also one of several disorders in which obesity, mental retardation and ocular abnormalities are associated. The article presents a case study followed up over 18 years and emphasises the importance of ophthalmic review in preserving visual function.
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PMID:Obesity-cerebral-ocular syndrome--a case report. 130 66

Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.
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PMID:Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. 145 79

The purpose of this review has been to examine the hypothesis that the Attention Deficit Hyperactivity Disorder (ADHD), formerly also referred to as the Hyperactive Syndrome or Minimal Brain Dysfunction (MBD), is a precursor of criminality and abuse of alcohol and illicit drugs. This has been done by reviewing findings from follow-ups. Most reviewed projects suffer from methodological weakness. In most materials, few if any of the cases had ADHD according to present criteria. Some had ADHD and conduct problems. Many probably had exclusively conduct problems, but were too young to fulfill the criteria of Conduct Disorder (CD). Methodological limitations of the examined projects have been pointed out. It has been discussed how weaknesses regarding research design might have influenced the results. As a consequence of methodological shortcomings of most projects, the reviewed studies do not give definite answers. However, they show some rather convincing trends. By early adulthood, ADHD appears to remain present in at least one third of the subjects. Subjects with prior ADHD did not have more mental problems than controls in adolescence and early adulthood, provided they had normal intelligence, and no additional disabilities or mental disorders. Those with mental retardation, cerebral dysfunction or psychosis in addition to ADHD have a poor prognosis. A high percent become psychotic, and some end up in institutions. Although there seems to be an increased rate of delinquency and lawbreaking in prior hyperactives compared to controls, these differences disappear when the results are analyzed. The initially impressive differences between cases and controls are probably consequences of bias. Cases with a childhood history of conduct and educational problems have been compared to controls without a history of such problems. Thus, the reported differences are not related to ADHD. Hyperactives without conduct problems do not have an increased frequency of delinquency. Problems of conduct, CD and Antisocial Personality Disorder, but not psychosis characterize cases with a childhood history of conduct problems (with or without ADHD). In subjects with ADHD as well as conduct problems in childhood, conduct problems and not ADHD predict the prognosis, which is worse than for those with CD without ADHD. ADHD combined with delinquency indicates a high rate of subsequent lawbreaking. Usually, cases have more problems than controls with alcohol and illicit drugs, but this might be the consequence of selection of cases (subjects with school and conduct problems) and controls (subjects without such problems).(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Follow-ups of children with attention deficit hyperactivity disorder (ADHD). Review of literature. 164 37

The Authors describe a case of William-Beuren Syndrome, also know as "Fanconi-Schlesinger Syndrome" or "Idiopathic Hypercalcaemia, supravalvular aortic stenosis, elfin facies syndrome". Irritability and chronic constipation are early features. Hypercalcaemia may occur in infancy but rarely after 1 year age. The facies is characteristic. Supravalvular aortic stenosis is the most frequent cardiac abnormality. Other common features are short stature, mental retardation and significant behavioural disorders. In this case report typical facies, short stature, behavioural disorders are associated with epilepsy in early years of life. Hypercalcaemia or cardiovascular malformation were not found.
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PMID:[William-Beuren syndrome: description of a case]. 178 14

The occurrence of congenital deafness, mutism and goitre unassociated with cretinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It has been estimated that 4-10 % of children with congenital deafness suffer from this condition. The perceptive hearing loss is considered to be present at birth although it is frequently not recognized for several years. The cause of the hearing defect is a congenital bilateral malformation of the cochlea of the Mondini type. The goitre is not recognized clinically at birth or in early childhood. It becomes apparent in the pre-pubertal years when it presents as a colloid enlargement progressing to a nodular goitre. The thyroid defect has been shown to be a partial defect in iodine organification leading to the underproduction of thyroxine and subsequent thyroid hyperplasia. The syndrome is caused by a single mutant recessive gene responsible for both the deafness and goitre. Its autosomal mechanism gives an equal incidence in both sexes, unusual in thyroid disease. This article reviews the current aspects of pathogenesis and treatment of this syndrome and reports its occurrence in two Sudanese siblings.
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PMID:Goitre and deaf-mutism. 181 81

This is a study of 6 patients of cloverleaf skull (CLS) who were treated between 1980 and 1988. All of them had mild to severe degree of craniofacial dysostosis of Crouzon type with variable degrees of exorbitism (pseudoexophthalmus), raised intracranial pressure and mental retardation. All except one patient had maternal H O fever and/or drug intake during the first trimester or toxaemia of pregnancy. The skull X-ray showed typical CLS with expanded middle cranial fossa, foreshortened anterior and posterior fossae and honey-comb appearance in the occiput. Preoperative CT scan revealed generalized hydrocephalus in older patients but only cystic dilatation of the temporal horns in younger infants. The best treatment results were observed in the youngest infant, 7 weeks old, following morcellation cranioplasty, duroplasty, orbital decompression and delayed V.P. Shunt. Fronto-orbital advancement procedure gave satisfactory results in older infants except in those with severe craniofacial stenosis. A delayed CSF shunt is only indicated for progressive postoperative hydrocephalus. Immediate survival was 100% and late 50%. The deaths were due to complications of hydrocephalus. Survival was better in those having less severe Crouzon Syndrome irrespective of the type of surgical treatment. However, timely CSF shunt surgery played an important role in the long term survival, improvement of I.Q., and ultimate shape of head. The study suggests that CLS is a severe malformation of Crouzons disease due to teratogenic damage in the first trimester of pregnancy causing developmental aberration of primary mesenchyme of the neurocranial capsule and base of the skull. The cystic dilatation of the temporal horns is the earliest sign of hydrocephalus and occurs secondary to disturbed growth of the cerebral capsule.
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PMID:Cloverleaf skull--a severe form of Crouzon's syndrome: a new concept in aetiology. 205 26

Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood. The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined. Two cases of Prader-Labhart-Willi Syndrome are presented with emphasis on the differential diagnosis of enamel hypoplasia associated with sexual maturation.
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PMID:Prader-Labhart-Willi syndrome. 227 77


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