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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1988-4-6
|
| pubmed:abstractText |
We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
29
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
107-15
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:3344763-Abnormalities, Multiple,
pubmed-meshheading:3344763-Body Height,
pubmed-meshheading:3344763-Bone and Bones,
pubmed-meshheading:3344763-Child, Preschool,
pubmed-meshheading:3344763-Craniosynostoses,
pubmed-meshheading:3344763-Ear, External,
pubmed-meshheading:3344763-Humans,
pubmed-meshheading:3344763-Infant, Newborn,
pubmed-meshheading:3344763-Male,
pubmed-meshheading:3344763-Syndrome
|
| pubmed:year |
1988
|
| pubmed:articleTitle |
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.
|
| pubmed:affiliation |
Hospital for Sick Children, London, United Kingdom.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|