|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
1989-12-26
|
|
pubmed:abstractText |
The age of appearance and diagnostic value of the major defining features of von Recklinghausen neurofibromatosis (NF-1) have been studied in 168 cases from 73 families. In assessing children of an affected patient, those who have inherited the gene can be distinguished from their normal sibs on the basis of whether or not café au lait (CAL) spots are present by the age of five years. Lisch nodules appear before cutaneous neurofibromas and are a useful clinical aid in the assessment of unusual cases, those in whom the diagnosis is equivocal, and children with multiple CAL spots but no family history of NF-1. Sixty-nine of the families were identified through a population based study in south east Wales and the frequency of complications in 135 affected subjects from these families has been used to develop figures for genetic counselling. For these purposes, the complications of NF-1 can be usefully divided into four categories: intellectual handicap (33%) (moderate/severe retardation 3.2%, minimal retardation/learning difficulties 29.8%); complications developing in childhood and causing lifelong morbidity (8.5%); 'treatable' complications which can develop at any age (15.7%); and malignant or CNS tumours (4.4 to 5.2%).
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-118780,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-14877597,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-2491784,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-2511318,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-2897130,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3081287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3081725,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3100979,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3103673,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3145091,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3155239,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-3921930,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-4004301,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-407919,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-4621893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-466037,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-6407319,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-6436764,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-6789269,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-6790551,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-6798842,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-6810767,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2511319-819447
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0022-2593
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
26
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
712-21
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:2511319-Adolescent,
pubmed-meshheading:2511319-Adult,
pubmed-meshheading:2511319-Age Factors,
pubmed-meshheading:2511319-Aged,
pubmed-meshheading:2511319-Aged, 80 and over,
pubmed-meshheading:2511319-Child,
pubmed-meshheading:2511319-Child, Preschool,
pubmed-meshheading:2511319-Female,
pubmed-meshheading:2511319-Genetic Counseling,
pubmed-meshheading:2511319-Humans,
pubmed-meshheading:2511319-Infant,
pubmed-meshheading:2511319-Intellectual Disability,
pubmed-meshheading:2511319-Male,
pubmed-meshheading:2511319-Middle Aged,
pubmed-meshheading:2511319-Neurofibromatosis 1,
pubmed-meshheading:2511319-Peripheral Nervous System Neoplasms,
pubmed-meshheading:2511319-Pigmentation Disorders,
pubmed-meshheading:2511319-Rhabdomyosarcoma,
pubmed-meshheading:2511319-Scoliosis,
pubmed-meshheading:2511319-Skin Neoplasms,
pubmed-meshheading:2511319-Wales
|
|
pubmed:year |
1989
|
|
pubmed:articleTitle |
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.
|
|
pubmed:affiliation |
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
|
|
pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
|
