Linked Life Data

5173168

Source:http://linkedlifedata.com/resource/pubmed/id/5173168

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1975-5-28
pubmed:abstractText
Three brothers with a previously unrecognized pattern of malformations are presented. The syndrome is characterized by short stature; a broad, prominent forehead, hypertelorism, congenital ptosis, a broad, short nose with anteverted nostrils, a long, broad upper lip, low-set, abnormally shaped and posteriorly rotated ears; simian palmar creases; brachyclinodactyly; short fingers; ligamentous laxity allowing for hyperextensibility of the fingers, genu recurvatum, flat feet; and an anomalous penoscrotal configuration resulting in "saddle" deformity with scrotal folds incircling the base of the penis. This disorder is apparently transmitted as an X-linked recessive trait. It is important to recognize this syndrome because of its heritability and for prevention of neurologic problems consequent to ligamentous laxity and malformation of cervical vertebras.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0547-6844
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
240-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1971
pubmed:articleTitle
Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.
pubmed:publicationType
Journal Article