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)

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

The clinical findings in 11 families with 52 members affected with the Waardenburg syndrome (WS) are presented and compared with the findings from other studies. The families are assigned to WS type I (7 families containing 31 affected individuals), or type II (4 families with 21 affected members), depending on the presence or absence of dystopia canthorum, and the differences between the two types are discussed. The hypothesis that the features of WS are explicable on the basis of a neural crest defect is supported. Attention is drawn to the finding of spina bifida in 2 unrelated WS type I patients, and of delayed milestones or poor school performance necessitating special schooling in 9 different unrelated patients. Deafness has previously been considered to be the most disabling characteristic of the condition, but if there is an increased incidence of spina bifida or mental retardation associated with WS, the approach to genetic counselling might need to be altered.
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PMID:Waardenburg syndrome in South Africa. Part I. An evaluation of the clinical findings in 11 families. 646 2

We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.
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PMID:Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. 653 55

We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.
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PMID:A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness. 653 52

A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.
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PMID:Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. 670 93

As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.
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PMID:Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings. 680 90

A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalities on the electrocardiograph.
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PMID:A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. 687 15

Estimates of the need for neurologists must be based ultimately on the frequency of neurologic disease. Community-based population surveys for diseases or injuries that have come to medical attention provide annual incidence rates per 100,000 population, point prevalence rates per 100,000, and average duration in years. For 61 disorders, including for 8 only those fractions that were thought to require neurologic attention, the annual incidence rates summed to 2500 per 100,000 or 2.5% of the population. For 55 of these conditions, including for 6 only the neurologic fraction and excluding all mental retardation, blindness, deafness, or psychosis, the point prevalence rates summed to 9500 per 100,000 population. Even if we also excluded all headache, all trauma, all alcoholism, and all vertebrogenic pain states, 3.6% of the general population at any one time should be under neurologic care. Substracting all these exclusions from the incidence rates similarly leaves more than 1 person in every 100 who each year will have a new neurologic disorder that requires the attention of a physician competent in clinical neurology.
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PMID:The current neurologic burden of illness and injury in the United States. 689 Jan 53

In an attempt to minimize the selection bias inherent in reporting the outcome of premature infants from a particular neonatal intensive care unit, this study presents data on all 294 live births 501 to 1,500 gm birth weight born to residents in the Hamilton-Wentworth region during 1973-78. The survival rate was 31.9% in infants less than or equal to 1,000 gm and 82.6% in infants between 1,001 to 1,500 gm. In all, 184 infants (62.6%) were discharged alive and 37 of these had weight less than or equal to 1,000 gm. The mean BW of the survivors was 1,216 +/- 214 gm and the mean gestation was 30.0 +/- 2.9 weeks, with 18.0% being small-for-gestational age. Neurologic handicaps including cerebral palsy, hydrocephalus, microcephaly, blindness, deafness, and mental retardation occurred in 30/179 (16.8%) survivors. The incidence of neurologic handicaps was 30% among babies who received IPPV versus 10% in those who did not. Within the IPPV and non-IPPV groups, there were no significant differences in handicap rates by 500 gm BW class.
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PMID:Follow-up of infants 501 to 1,500 gm birth weight delivered to residents of a geographically defined region with perinatal intensive care facilities. 703 80

Thirty-four patients wtih fibrodysplasia (syn., myositis) ossificans progressiva are described. Marked delay in diagnosis was usual, but all had characteristic skeletal malformations and ectopic ossification. The clinical features included: four types of malformation of the big toe, reduction defects of all digits, deafness, baldness of the scalp, and mental retardation. Progression of disability was erratic in all, but severe restriction of movement of the shoulder and spine was usual by the age of 10 years; the hips were usually involved by the age of 20 years; and most patients were confined to a chair by the age of 30 years. Exacerbating factors included trauma to the muscles, biopsy of the lumps, operations to excise ectopic bone, intramuscular injections, careless venepuncture and dental therapy. Progression of disability did not appear to be influenced by any form of medical treatment and therefore management of the patients must concentrate on the avoidance of exacerbating factors.
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PMID:Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. 706 25


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