Linked Life Data

7137221

Source:http://linkedlifedata.com/resource/pubmed/id/7137221

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1982-12-16
pubmed:abstractText
We report on a 9-year-old boy with chondrodystrophic myotonia (Schwartz-Jampel syndrome) and the progress of a brother and sister with this syndrome first described in 1969. This is an autosomal recessive trait characterized by mask-like face, narrow palpebral fissures (due to blepharophimosis, blepharospasm, and abnormal orbital configuration), microstomia, micrognathia, myotonia, muscular hypertrophy, osteochondrodysplasia, and growth retardation. Expressivity varies and in some sibships females are less severely affected than their brothers. The sexual development of the sibs with chondrodystrophic myotonia, who are now in the mid to late second decade, has been normal. Linear growth rate accelerated during puberty but the adult height of the male is less than normal. Administration of human growth hormone had no consistent effect on the growth pattern of this boy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
51-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969.
pubmed:publicationType
Journal Article, Case Reports