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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1998-1-8
|
| pubmed:abstractText |
A severely mentally retarded 20-year-old male adult with a marfanoid habitus reported since birth and dysmorphic features is described. A younger brother presented the same appearance at birth but died at 2 months of age following a cardiopathy. Despite some clinical differences, his features are very close to the Lujan-Fryns syndrome and to two unrelated girls described by de Die-Smulders et al. (1). This case shows the challenge that clinicians could have while investigating patients with mental retardation and marfanoid habitus for diagnosis and genetic counseling.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1015-8146
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
8
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
195-200
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9327261-Adult,
pubmed-meshheading:9327261-Anthropometry,
pubmed-meshheading:9327261-Humans,
pubmed-meshheading:9327261-Intellectual Disability,
pubmed-meshheading:9327261-Lebanon,
pubmed-meshheading:9327261-Male,
pubmed-meshheading:9327261-Marfan Syndrome,
pubmed-meshheading:9327261-Severity of Illness Index,
pubmed-meshheading:9327261-Skull
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.
|
| pubmed:affiliation |
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|