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)

Two cases of mental retardation distichia, blepharophimosis, blepharoptosis, synophrys, prominent and long phyllum, auricular defects, palmar simial crease, clinodactyly and lymphedema, in a child and his mother, is represented, suggesting a specific syndrome due to a genetic defect inherited in an autosomal dominant fashion. Two other cases with blepharophimosis, blepharoptosis, prominent and long phyllum and mental retardation are commented, suggesting a different expression of the same genetic defect.
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PMID:[A peculiar syndrome of congenital abnormalities]. 68 15

Two siblings with yellow nail syndrome and mental retardation are described. In addition to nail changes, the younger brother was found to have congenital lymphoedema and idiopathic pleural effusion, and the elder brother, lymphoedema praecox. They had in common a history of respiratory tract infections. Their intelligence quotient as measured by the Suzuki-Binet tests was 30% and 70%, respectively.
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PMID:Yellow nail syndrome associated with mental retardation in two siblings. 70 2

A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and prones to pulmonary infections.
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PMID:Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. 174 91

Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 and 6 had only limb defects. Craniofacial and neurologic manifestations of our longer-survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro- or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema. pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.
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PMID:Amniotic band sequence and its neurocutaneous manifestations. 342 34

Fourteen patients from six families have been reported in which microcephaly occurs in conjunction with lymphoedema, with no evidence of mental retardation or serious neurological disabilities. Chorioretinal dysplasia was noted in a small number of affected individuals. Inheritance was either autosomal dominant or X-linked and the question has been raised whether all these cases represent one entity or separate syndromes. We report the 7th family with two affected sibs of different sex. Developmental testing revealed normal to borderline intelligence associated with Attention Deficit Hyperactivity Disorder. The suggested mode of inheritance in this family is autosomal recessive. X-linked dominant inheritance cannot be ruled out, however, since the male was more severely involved than the female. We concur with previous authors that the association of microcephaly and lymphoedema is a distinct genetic syndrome and we propose to name this entity the 'microcephaly-lymphoedema syndrome'.
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PMID:The microcephaly-lymphoedema syndrome: report of an additional family. 886 59

Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.
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PMID:Lymphoscintigraphic manifestations of Hennekam syndrome--a case report. 1060 68

We report two brothers with mental retardation, lymphoedema of the limbs and facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) described four patients with identical signs and intestinal lymphangiectasia. To confirm the diagnosis of Hennekam syndrome we undertook a duodenal biopsy from the older brother which revealed intestinal lymphangiectasia. So far only one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction.
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PMID:Two brothers with Hennekam syndrome and cerebral abnormalities. 1064 92

Patients who carry a structural abnormality of the X chromosome are a fascinating group who have provided opportunities to evaluate genotype/phenotype correlation in relation to X chromosome content and inactivation. Turner syndrome (TS) is most commonly associated with a 45,X karyotype and presents with an array of phenotypes, the main ones being poor viability in utero, ovarian failure and infertility, short stature, lymphedema, and other congenital malformations but usually not mental retardation. In some TS patients the karyotype shows both a normal X and a structurally rearranged X chromosome. These structural abnormalities, which include deletions, duplications, inversions, translocations, and rings, are associated with chromosome breaks and significant imbalance of gene content of the X chromosome. However, such abnormalities are generally well tolerated because of the preferential inactivation of the abnormal X, which can restore, at least in part, a balanced genetic makeup. This beneficial effect of X inactivation results in a mild phenotype in most patients with structural abnormalities of the X, similar to that found in TS patients with a 45,X karyotype. However, in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher than in TS. These abnormal phenotypes can be ascribed to failed or partial X inactivation and/or incomplete selection in favor of cells with normal balance of gene expression. In this article, we present phenotype/genotype correlation in female patients with structural abnormalities of the X and address the role of X inactivation and cell selection in the phenotypic findings. Our review emphasizes a subset of rare patients with ring X chromosomes who have provided evidence of a direct role for X inactivation in determining phenotypes.
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PMID:Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. 1148 Sep 12

The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual.
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PMID:Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims). 1280 36

We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal lymphangiectasia. The association of intestinal lymphangiectasia and aplasia cutis, and the association of intestinal lymphangiectasia with brain heterotopia in the lymphedema-lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
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PMID:Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. 1557 73


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