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

Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.
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PMID:Dominant inheritance of cerebral gigantism. 88 95

An 8-year-old boy with an uncorrected ventricular septal defect, pulmonary stenosis, mental retardation, and gigantism died 24 hours after partial resection of a large right-sided Wilms' tumor. The presence of other abnormalities, including a small umbilical hernia and overgrowth of the external genitalia, raises the possibility that this case represents a variant of the Beckwith-Wiedemann syndrome. The typical facial features of Sotos' syndrome were not present. Gross examination of the surgical specimen revealed that tumor was present in the resected margin of left renal vein. Necropsy showed that death resulted from extensive cerebral infarction due to occlusion of the left internal carotid artery and its branches by tumor emboli. Paradoxical embolism had occurred during or soon after partial resection of the tumor mass due to passage of tumor fragments into the systemic circulation through the ventricular septal defect.
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PMID:Fatal paradoxical embolism to the left carotid artery during partial resection of Wilms' tumor. 132 57

Sotos' syndrome (synonym: cerebral gigantism) is the association of mental retardation, macrocephaly and prenatal onset of accelerated growth. The rapid skeletal growth may account for a 4% incidence of scoliosis. General anaesthesia using halothane or enflurane in nitrous oxide and oxygen, with opioid supplementation and labetalol to induce moderate hypotension, appeared to be a satisfactory technique for corrective spinal surgery. The potential problems are discussed, with mental retardation and sometimes aggressive behaviour contraindicating a "wake-up" test. Extradural somatosensory evoked potential monitoring is a satisfactory alternative. Hook failures seem more likely than in patients undergoing surgery for adolescent idiopathic scoliosis.
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PMID:Posterior spinal fusion in Sotos' syndrome. 206 91

A review of three children who attended a school for the mentally retarded shows that they have Sotos' syndrome. Sotos syndrome, or cerebral gigantism, was first described in 1964. This syndrome is characterized by rapid growth from 1-4 years of age, advanced osseous maturation, large size at birth, macrocephally and a high forehead. The head also grows fast from infancy to two years of age. The children have mild dilatation of lateral ventricles, large hands and feet. They also have dysmorphic features, such as hypertelorism, down slanting palpebral fissure, higharched palate, non progressive neurological disorder and variable degrees of mental retardation. The etiology is unknown, but autosomal recessive cases have been reported. Some cases have subsequently shown a fragile x-chromosome. Typically, the final height of the children is normal.
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PMID:[Cerebral gigantism--Sotos' syndrome]. 230 10

We describe a large family with 14 persons presenting macrosomia with or without mental retardation in which dominant transmission is evident over 4 generations. A wide range of phenotypic variability was observed, some patients showing macrosomia and mental impairment, others only macrosomia. The cases will be discussed in relationship with other conditions in which the 2 signs may be present, and above all in Sotos sequence.
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PMID:Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations. 270 85

Cerebral gigantism, or Sotos' disease, is a rare disorder of unknown cause characterized by the early onset of excessive growth, acromegalic features, and some degree of mental retardation. Although several endocrinologic abnormalities have been described in such patients, none has been specific or sufficient to explain the clinical features. Our report of the endocrinologic and pathologic aspects in a young woman with Sotos' disease includes the first microanatomic study of the hypothalamus and immunocytochemical examination of the pituitary gland in this disorder.
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PMID:The hypothalamus and pituitary in cerebral gigantism. A clinicopathologic and immunocytochemical study. 401 90

Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome. Autosomal dominant inheritance has been postulated in the past, and the family conform to this genetic pattern.
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PMID:Sotos syndrome--autosomal dominant inheritance substantiated. 406 61

The psychological findings on 10 children with cerebral gigantism are reviewed. Infants with cerebral gigantism showed a consistent pattern of psychomotor delay. Preschool age children demonstrated signs of a primary language disorder, and school-age patients had learning disabilities. The incidence of mental retardation was significantly lower than previously reported in the literature. The possibility that some children with cerebral gigantism can be easily misdiagnosed as mentally retarded is discussed.
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PMID:Cognition in cerebral gigantism: are the estimates of mental retardation too high? 666 20

Eleven children with cerebral gigantism or Sotos' syndrome were assessed regarding their cognitive, emotional, and behavioral status. The children demonstrated high rates of emotional and behavioral disorders, but no specific pattern or personality style was detected. On the cognitive assessments, all of the children presented with cognitive impairment or mental retardation, the range of which was variable. As with other syndromes associated with developmental delay, there was a wide range of expression of problems.
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PMID:Emotional, behavioral, and cognitive status of children with cerebral gigantism. 673 59

Sotos' syndrome or cerebral gigantism is a rare entity with advanced linear growth, mental retardation and characteristic facies. Two new cases are reported. Clinical, roentgenographic and laboratory findings are discussed.
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PMID:[Sotos' syndrome. Report of 2 cases]. 743 98


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