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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1991-3-18
|
| pubmed:abstractText |
A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
38
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
359-61
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:2282715-Abnormalities, Multiple,
pubmed-meshheading:2282715-Bone Diseases, Developmental,
pubmed-meshheading:2282715-Chromosome Aberrations,
pubmed-meshheading:2282715-Chromosome Disorders,
pubmed-meshheading:2282715-Consanguinity,
pubmed-meshheading:2282715-Corneal Opacity,
pubmed-meshheading:2282715-Dwarfism,
pubmed-meshheading:2282715-Genes, Recessive,
pubmed-meshheading:2282715-Humans,
pubmed-meshheading:2282715-Hyperglycemia,
pubmed-meshheading:2282715-Infant, Newborn,
pubmed-meshheading:2282715-Male
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.
|
| pubmed:affiliation |
Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval, Belgium.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|