Linked Life Data

8897040

Source:http://linkedlifedata.com/resource/pubmed/id/8897040

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1997-3-3
pubmed:abstractText
We report on a case of achondrogenesis type IA (Houston-Harris) with an occipital encephalocele. Prenatal sonograms revealed polyhydramnios, subgaleal edema, microcephaly, a narrow thorax, pericardial effusion, and a severe short-limbed dwarfism with unossified tubular bones and vertebral bodies. Postmortem examination demonstrated additional findings of hydrops fetalis, a membranous calvarium with a defect, an occipital encephalocele, hypoplastic lungs, and wedge-like tubular bones. Whole body radiography revealed no ossification of the bones except some small identified foci of calcification in the base of the skull, clavicles, and pelvic bones. Histological examination of the growth plate showed hypercellularity and enlarged vacuolated chondrocytes with PAS-positive diastase-resistant cytoplasmic inclusions. Various abnormalities have been reported in association with achondrogenesis type IA, however, an associated neural tube defect has not previously been described in the literature. We report on an infant with both of these disorders.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
193-9
pubmed:dateRevised
2006-7-6
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
A case of achondrogenesis type IA with an occipital encephalocele.
pubmed:affiliation
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
pubmed:publicationType
Journal Article, Case Reports