18470519

Source:http://linkedlifedata.com/resource/pubmed/id/18470519

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0522498
pubmed:issue	3
pubmed:dateCreated	2008-7-28
pubmed:abstractText	Restrictive dermopathy (RD) belongs to the laminopathies and mostly shows an autosomal recessive heredity pattern. This rare genetic disorder is lethal for the newborn in the neonatal period. Clinical and pathological findings are distinctive and allow for a specific diagnosis in most cases. Furthermore, polyhydramnios, decreased foetal movement, facial dysmorphisms and arthrogryposis are characteristic of RD. Respiratory insufficiency leads to an early neonatal death.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8710213
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	1432-0711
pubmed:author	pubmed-author:BraunSusanneS, pubmed-author:FischerDorotheaD, pubmed-author:HausserIngridI, pubmed-author:JackischChristianC, pubmed-author:NguyenThuy DuongTD, pubmed-author:ThillMarcM, pubmed-author:WehnertManfredM
pubmed:issnType	Electronic
pubmed:volume	278
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	201-8
pubmed:meshHeading	pubmed-meshheading:18470519-Abnormalities, Multiple, pubmed-meshheading:18470519-Fatal Outcome, pubmed-meshheading:18470519-Female, pubmed-meshheading:18470519-Humans, pubmed-meshheading:18470519-Infant, Newborn, pubmed-meshheading:18470519-Male, pubmed-meshheading:18470519-Pregnancy, pubmed-meshheading:18470519-Skin Abnormalities, pubmed-meshheading:18470519-Young Adult
pubmed:year	2008
pubmed:articleTitle	Restrictive dermopathy: a rare laminopathy.
pubmed:affiliation	Department of Gynecology and Obstetrics, Klinikum Offenbach, Starkenburgring 66, 63069, Offenbach, Germany. marc.thill@uk-sh.de
pubmed:publicationType	Journal Article, Case Reports