Linked Life Data

21227

Source:http://linkedlifedata.com/resource/pubmed/id/21227

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1977-12-29
pubmed:abstractText
The authors discuss the nosological position and the aetiology of a complex of malformations affecting a boy, born at the end of a 40-week pregnancy with a weight of 1420 g and height of 42.5 cm, who died at the age of 3 1/2 months. The case presented an association of an acrocephalosyndactyly, phalangeal hypoplasias with anonychia, aplasia of the abdominal muscles, a genital hypoplasia with cryptorchidism and hypospadias, patches of lipodystrophy localised on the outside of the arms, at the folds of the elbow and the popliteal fossae. The autopsy revealed a large interventricular communication, absence of common mesentery and especially important cerebral anomalies (smooth brain, absence of interhemispherical suture, disorganization of the basal ganglia). The genetic study suggested a spontaneous abortion 2 1/2 months before the birth of the patient and revealed, in the mother, the presence of bilateral clinodactylies of the fingers and a unilateral syndactyly of the big toes.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0021-7743
pubmed:author
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
109-19
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1977
pubmed:articleTitle
[A new complex polymalformative syndrome (author's transl)].
pubmed:publicationType
Journal Article, English Abstract, Case Reports