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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1990-5-7
|
| pubmed:abstractText |
The Brachmann-de Lange-syndrome (Cornelia de Lange-syndrome) belongs to the group of well established multiple congenital anomalies/mental retardation syndromes. The main features are a characteristic dysmorphic face, short stature, defects mainly of the upper limbs and severe psychomotor retardation. A variety of internal anomalies belongs to the non obligatory features of the syndrome. Based on 16 own observations (7 females, 9 males) aged between 1 day and 16 years, we describe the clinical variability of the Brachmann-de Lange-syndrome. Relatively poor prognosis is shown by the fact that up to now 6 of the patients have died.
|
| pubmed:language |
ger
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0026-9298
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
138
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
72-6
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:2320015-Adolescent,
pubmed-meshheading:2320015-Child,
pubmed-meshheading:2320015-Child, Preschool,
pubmed-meshheading:2320015-Child Development,
pubmed-meshheading:2320015-De Lange Syndrome,
pubmed-meshheading:2320015-Female,
pubmed-meshheading:2320015-Follow-Up Studies,
pubmed-meshheading:2320015-Humans,
pubmed-meshheading:2320015-Infant,
pubmed-meshheading:2320015-Infant, Newborn,
pubmed-meshheading:2320015-Karyotyping,
pubmed-meshheading:2320015-Male
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
[Brachmann-de Lange syndrome in 16 of our patients].
|
| pubmed:affiliation |
Universitäts-Kinderklinik, Kiel.
|
| pubmed:publicationType |
Journal Article,
English Abstract
|