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Noonan syndrome: coagulation and clinical aspects
A A Massarano1, A Wood, R C Tait
1Department of Clinical Genetics, Royal Manchester Children's Hospital, UK.
Acta Paediatrica (Oslo, Norway : 1992)
|October 1, 1996
Summary
Noonan syndrome patients often exhibit bleeding tendencies, particularly bruising and oral bleeding. Coagulation tests may not predict surgical bleeding risk, necessitating careful management during procedures.
Area of Science:
- Pediatric Hematology
- Genetics
- Clinical Medicine
Background:
- Noonan syndrome is a genetic disorder with variable clinical manifestations.
- Bleeding diathesis is a recognized but not fully understood complication of Noonan syndrome.
Purpose of the Study:
- To detail the clinical features of Noonan syndrome patients.
- To investigate the bleeding tendency in this cohort.
- To correlate clinical bleeding history with laboratory coagulation findings.
Main Methods:
- Clinical assessment of 18 patients (12M, 6F) aged 2.6-13.3 years.
- Utilized a bleeding tendency questionnaire.
- Performed laboratory coagulation studies, including partial thromboplastin time and clotting factor levels.
Main Results:
- Increased bruising or bleeding reported in 67% of patients, with oral bleeding in four.
- Prolonged partial thromboplastin time observed in 56%, linked to low clotting factors XI and XII.
- Coagulation results did not correlate with bruising history or predict bleeding risk.
Conclusions:
- Noonan syndrome patients require careful surgical planning, especially for oropharyngeal procedures.
- Immediate availability of blood products is crucial for managing potential surgical bleeding.
- Further research may be needed to refine bleeding risk assessment in Noonan syndrome.