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 report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.
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PMID:[Weaver's syndrome. Apropos of a new case]. 236 50

The first familial observation of the Marshall-Smith syndrome is showed. The propositi are a male and female relatives with a double consanguinity and whose family comes from a small area with a high rate of inbreeding. According to this hypothesis autosomal recessive inheritance for this syndrome is proposed as very suggestive. These two new cases seem to prove that the mental retardation may not be a typical clinic features and that survival of the cases longer that expected may be considered. One of our patients is a three years old female and the other one is nearly eleven years old male. The syndrome delineation is given by very closely homogeneous patterns. Said patterns also single it out from the Weaver syndrome.
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PMID:[Marshall-Smith syndrome. Apropos of a personal case]. 634 81

The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. This observation underlines the clinical variability of the Marshall-Smith syndrome and indicates that life expectancy may be prolonged.
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PMID:Long survival of a patient with Marshall-Smith syndrome without respiratory complications. 823 Jan 68

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed.
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PMID:Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. 1608 94

Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.
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PMID:Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. 1653 39

Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia.
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PMID:Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. 1862 63

Sotos syndrome is characterized by prenatal and postnatal overgrowth, characteristic craniofacial features and mental retardation. Haploinsufficiency of NSD1 causes Sotos syndrome. Recently, two microdeletions encompassing Nuclear Factor I-X (NFIX) and a nonsense mutation in NFIX have been found in three individuals with Sotos-like overgrowth features, suggesting possible involvements of NFIX abnormalities in Sotos-like features. Interestingly, seven frameshift and two splice site mutations in NFIX have also been found in nine individuals with Marshall-Smith syndrome. In this study, 48 individuals who were suspected as Sotos syndrome but showing no NSD1 abnormalities were examined for NFIX mutations by high-resolution melt analysis. We identified two heterozygous missense mutations in the DNA-binding/dimerization domain of the NFIX protein. Both mutations occurred at evolutionally conserved amino acids. The c.179T>C (p.Leu60Pro) mutation occurred de novo and the c.362G>C (p.Arg121Pro) mutation was inherited from possibly affected mother. Both mutations were absent in 250 healthy Japanese controls. Our study revealed that missense mutations in NFIX were able to cause Sotos-like features. Mutations in DNA-binding/dimerization domain of NFIX protein also suggest that the transcriptional regulation is abnormally fluctuated because of NFIX abnormalities. In individuals with Sotos-like features unrelated to NSD1 changes, genetic testing of NFIX should be considered.
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PMID:Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 2230 65