Protein S deficiency: early presentation and pulmonary hypertension.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1519965.
- Also identified by PMC identifier 1793844.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Protein S deficiency usually presents in adults with recurrent or unexplained thrombosis and is thought to have autosomal dominant inheritance. We describe the case of a 5 year old girl with pulmonary hypertension but no evidence of venous thrombosis until postmortem examination. Her parents were first cousins. This potentially treatable condition should be sought in children and their relatives screened.
Medical subject headings
- Glycoproteins
- Hypertension, Pulmonary
- Peptide Fragments
- Protein S Deficiency
- Ribonuclease, Pancreatic
- Thrombosis