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

The Williams elfin facies syndrome (Williams-Beuren syndrome) is a disorder characterized by a typical facies, supravalvular aortic stenosis and mental retardation. Its coexistence with a brain tumor has, so far, never been described. Recently, we treated a patient who was previously diagnosed as having Williams syndrome for a cerebral astrocytoma. In view of the incidence of astrocytomas in children and the occurrence of Williams syndrome, we want to report this coincidence.
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PMID:Occurrence of an astrocytoma in a patient with Williams syndrome. 384 62

A 10-year-old girl with Williams syndrome (with characteristic facies and behavior, mental retardation, and growth disturbances) was seen with scoliosis, which, despite attempted bracing, rapidly progressed to 95 degrees and required surgical stabilization. Review of the entire literature on Williams syndrome revealed hallux valgus and little-finger clinodactyly as the most commonly mentioned orthopaedic manifestations, with only brief mention of spinal deformity. As awareness of Williams syndrome increases, spine surgeons must be aware of possible rapidly progressive scoliosis and kyphosis.
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PMID:Kyphoscoliosis in Williams syndrome. 751 44

Head circumference is considered an important parameter of brain growth and development. Syndrome-specific standards for head circumference in Williams-Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (+/- SD) head circumference at birth was 33.39 +/- 1.38 cm and 34.02 +/- 1.44 cm for term girls and boys, respectively. Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5-2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 +/- 1.75 cm (n = 16) compared to 55.70 +/- 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 +/- 1.68 cm (n = 30) compared to 57.87 +/- 1.29 cm (n = 31; P < 0.00001) in WBS men. During development, microcephaly is only seen in about one third of WBS patients.
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PMID:Head circumference of children with Williams-Beuren syndrome. 752 70

Two female cases, 23- and 21-year-old, of supravalvular aortic stenosis associated with cerebellar hypoplasia, retinitis pigmentosa and myopathy were reported. No family history of mental retardation and cardiovascular anomalies was found. There was no consanguinity between the parents. Pregnancy, labor and delivery were reported to be uncomplicated. When they visited to our hospital at the age of 13 and 11 years, they had short stature, characteristic facial appearance (eg, wide mouth, elongated philtrum, low nasal bridge and broad forehead) and supravalvular aortic stenosis. Neurological examination disclosed mental retardation, retinitis pigmentosa, muscle wasting and contracture of bilateral knee and ankle joints. Gait was unsteady and bradykinetic. Their smooth pursuiting ocular movements were saccadic. No nystagmus was recorded. Mild intention tremor was present. The muscles were slightly hypotonic, but deep tendon reflexes were hyperactive in the lower extremities. The sensory system was normal. Results of chromosome analysis and urine amino acid analysis were normal. The serum creatine kinase was elevated to 1,000-3,000 U. Muscle biopsy revealed nonspecific myopathic changes such as variability of fiber diameter in both fiber types. Neither cell infiltration nor deposits of fat or glycogen was found. Cranial MRIs performed at the age of 22 and 20 years disclosed cerebellar hypoplasia and moderate enlargement of the fourth ventricle. The two cases resembled clinically those of Williams syndrome, but the MRI findings were not consistent with those of the syndrome. The disorder is considered to be either Williams syndrome complicated by some other relatively rare clinical features, or another heredofamilial disease partly resembling Williams syndrome.
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PMID:[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings]. 819 69

A case report of a 45-year-old woman with Williams syndrome who was indicated, because of increasing problems, for surgery of a supravalvular stenosis of the ascending aorta. In addition to lesions on the aorta, examination revealed multiple stenoses of branches of the pulmonary artery. The patient showed no facial changes or signs of mental retardation. The operation was performed in extracorporeal circulation by suturing a Dacron flap into the stenotic segment of the aorta, and reimplantation and reconstruction of the stenosed aortic arch branches. The procedure was uneventful and, four months after surgery, the patient is completely free of problems.
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PMID:[The Williams syndrome in adulthood]. 834 17

The recognizable patterns of human malformations have recently received much attention, particularly because of the decline of other diseases. Patients with a congenital malformation syndrome come to the Child Neuropsychiatrist for various reasons, such as: mental retardation of variable degree, learning disabilities, speech delay or absence of speech, behaviour disorders, various neurological impairment. Parents, however, seem to be mainly concerned about the prognosis of cognitive and psychological aspects. We have studied 83 patients with a specific pattern of malformations (35 affected by the Sotos syndrome; 25 by the Williams syndrome; 9 by the Cohen syndrome; 8 by the Cornelia De Lange syndrome; 6 by the Rubinstein-Taybi syndrome) and have particularly investigated their cognitive and psychological profiles. 13/83 showed a normal cognitive level (9 Sotos syndrome; 4 Williams syndrome), while 70/83 showed a cognitive deficit ranging from mild-moderate (56 cases) to moderate-severe (14 cases). Linguistic deficits are prominent in the Sotos, Cornelia De Lange, and Rubinstein-Taybi patients, while practo-gnosic deficits are frequent in the Williams and particularly in the Cohen syndrome patients. The personality structure is characterized by immaturity and anxiety in all but the Williams syndrome patients, where some peculiar neurotic traits may be observed. All patients showed good communicative abilities.
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PMID:[Cognitive and psychological profiles in dysmorphic syndromes]. 841 90

Four patients with suprarenal coarctation of the abdominal aorta were managed from 1978 to 1993 (mean follow-up 8.75 years). Ages at the time of diagnosis were 2 months, 8 months, 4.5 years, and 15 years, respectively. Three children presented with severe hypertension, two of whom were in congestive heart failure, and the fourth child presented with a cold, ischemic leg. The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively. After 12 years of follow-up, he was given five medications to control hypertension, cardiac arrhythmias, and heart failure. Three patients with abdominal aortic coarctation were treated operatively and none died. Two patients underwent bypass grafting from the supraceliac aorta to the infrarenal aorta, with bilateral renal artery reconstruction in one. Postoperative arteriograms obtained 1 year or more after operation were normal in both cases. The 2-month-old patient underwent patch aortoplasty, with subsequent reoperation 1.5 years later for recurrent hypertension and heart failure with a bypass graft to the left kidney and removal of an infarcted right kidney. In all three patients, operative repair of the suprarenal aortic coarctation has resulted in long-term control of blood pressure and cardiac and renal function.
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PMID:Coarctation of the abdominal aorta. 852 35

The developmental anomalies of dental hard tissues are relatively common in children. These anomalies can involve separately the enamel and they are due to many factors acting during odontogenesis. The paper deals with the main ethological factors and describes a case of idiopathic hypercalcemia. It is normally accompanied by aortic stenosis, mental retardation and a characteristic elfin face. This is called Williams syndrome. In this case we only found enamel hypoplasia on the cusps of the first molars.
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PMID:[Dental enamel hypoplasia apropos of a case]. 862 Sep 79

In this study we evaluated the temperament characteristics of a group of 13 subjects with Williams-Beuren syndrome (WBS) and compared the results to the findings in a control group of 13 individuals with the same degree of mental retardation of different etiology. On the different subscales of the Dutch adaptation of the Parent Temperament Questionnaire no statistically significant differences between the WBS and the control group were noted. An easier temperament was noted in the control group, and we also found greater intensity, less persistence and lower treshold in WBS subjects. The present findings indicate that the "specific" behavioural phenotype in WBS patients is apparently more related to mental retardation itself than to the underlying genetic defect. Further studies on a large group of WBS patients and mentally retarded control group are needed to confirm these findings.
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PMID:Temperament in Williams syndrome. 865 87

Eating and sleeping problems have a high prevalence in mental retardation in general, but are also discussed as characteristic in some genetically determined disorders. A comparative analysis of eating and sleeping behaviours in 28 Prader-Willi- and 32 Williams-Beuren syndrome children by psychometric instruments confirms excessive food-seeking behaviours in PWS and selective food refusal in WBS as specific problems. In both syndromes, however, there is considerable individual variability in these symptoms.
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PMID:Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome. 873 69


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