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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1987-5-14
|
| pubmed:abstractText |
We describe 3 moderately to severely mentally retarded males (2 brothers and 1 isolated patient) with congenital deafness due to an anatomical inner ear anomaly, the same manifestations that were present in the 4 sibs reported by Fountain [1974]: skeletal abnormalities with broad, stubby hands and feet and hyperkyphosis, and a peculiar "coarse" face with swelling of the subcutaneous tissue, particularly of cheeks and lips. According to the present observations early-onset, generalized seizures can be added to the symptom complex of this autosomal recessive trait.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
26
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
551-5
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:3565469-Abnormalities, Multiple,
pubmed-meshheading:3565469-Adolescent,
pubmed-meshheading:3565469-Adult,
pubmed-meshheading:3565469-Bone and Bones,
pubmed-meshheading:3565469-Chromosome Aberrations,
pubmed-meshheading:3565469-Chromosome Disorders,
pubmed-meshheading:3565469-Deafness,
pubmed-meshheading:3565469-Face,
pubmed-meshheading:3565469-Humans,
pubmed-meshheading:3565469-Intellectual Disability,
pubmed-meshheading:3565469-Male,
pubmed-meshheading:3565469-Syndrome
|
| pubmed:year |
1987
|
| pubmed:articleTitle |
Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|