Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Idiopathic multicentric osteolysis is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bones usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of this syndrome. Mental retardation and minor facial abnormalities have been noted in some patients. We report on 2 unrelated, sporadic cases, one with facial anomalies and the other with nephropathy. Our second patient is the first black child to be diagnosed with this disease. The mode of presentation, differential diagnosis, and natural history of this disorder are briefly reviewed.
 ...
PMID:Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. 304 35

A survey of 875 disabled children in Norway aged 0-19, representing ten different disabling conditions, was carried out between January 1976 and December 1978. Parents of the disabled children were interviewed, medical records studied and the children examined. Mother's age, level of education, presence of disabled siblings, spouse's education and profession as well as emergency situations related to the disabled child's condition appeared to be factors influencing the mother's health and therefore inevitably the family's ability to cope with the situation. Social insurance seemed to have been granted in a rather haphazard way; only families of children suffering from hemophilia, mental retardation, spina bifida and cerebral palsy seemed to have received fairly adequate social insurance benefits. Families of children suffering from juvenile rheumatoid arthritis, asthma, congenital heart disease and epilepsy had received less social insurance assistance than those in the other groups. One-parent families had received more social insurance than others. Families with children who were totally dependent on their parents, who had several diagnoses or had spent much time in hospital, had also been granted more social insurance. Welfare benefits distributed by local authorities had mainly been given to families who were also receiving social insurance benefits and to families of children with brain damage. Almost half of all families expressed needs for welfare benefits which had not been met. Thus, there seemed to be an underconsumption of both social insurance and welfare benefits, particularly among some diagnostic groups.
 ...
PMID:Aspects of living conditions among groups of disabled children and their families in Norway: family situation, mothers' health, financial assistance. 622 33

A girl with psychomotor retardation and a pattern of minor anomalies was found to have a slightly enlarged short arm of chromosome 18 by conventional GTG-banded chromosome examination. The 18p+chromosome has also been found in the father. FISH studies using chromosome 18-and chromosome 20-specific painting probes confirmed a reciprocal whole arm translocation between chromosomes 18 and 20 in the father, resulting in monosomy of the short arm of chromosome 18 and trisomy of the short arm chromosome 20 in the patient. FISH analysis using a chromosome 18 alpha-satellite-specific probe showed a reduced signal intensity. The patient presented with a flat, oval face, upslanting palpebral fissures, periorbital fullness, and mental retardation; she also had chronic diarrhea with milk protein intolerance and juvenile rheumatoid arthritis at age 5 years. Juvenile rheumatoid arthritis, like several other immunologic disorders, has occasionally been reported in patients with deletion of 18p, and thus most likely loss of a gene or genes on 18p is responsible for various immunologic disorders occurring in these patients.
 ...
PMID:Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). 1189 91