Source:http://linkedlifedata.com/resource/pubmed/id/17680252
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2007-11-23
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| pubmed:abstractText |
BACKGROUND: Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structures. It occurs in 5-12/10,000 live births. Clinically, there is a nearly continuous spectrum of malformations consistent with HPE. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency, are frequently associated with HPE. Seizures may occur. CASE REPORT: We report a new case of semilobar-HPE complicated by neurogenic hypernatremia and no signs of dehydration in a child with microcephaly, spasticity, mental and psychomotor retardation, frontal bones hypoplasia, and mild facial dysmorphism.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1433-0350
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| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
24
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
139-42
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| pubmed:meshHeading | |
| pubmed:year |
2008
|
| pubmed:articleTitle |
Holoprosencephaly with neurogenic hypernatremia: a new case.
|
| pubmed:affiliation |
Department of Pediatrics, IRCCS Policlinico S. Matteo, University of Pavia, Piazzale Golgi, 2, 27100, Pavia, Italy. s.savasta@smatteo.pv.it
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| pubmed:publicationType |
Journal Article,
Case Reports
|