Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome

Lancet. 1992 Jan 4;339(8784):19-21. doi: 10.1016/0140-6736(92)90141-o.

Abstract

Noonan's syndrome is characterised by a dysmorphic facies, congenital heart disease, and short stature, and is inherited as an autosomal dominant trait. Because abnormal bleeding has also been reported, we investigated a group of patients for coagulation-factor deficits. Of the 72 individuals studied (37 male, 35 female, mean age 11.4 years), 47 (65%) had a history of abnormal bruising or bleeding. 29 patients (40%) had a prolonged activated partial thromboplastin time. Specific abnormalities in the intrinsic pathway of coagulation (partial factor XI:C, XII:C, and VIII:C deficiencies) were found in 36 patients (50%). Multiple abnormalities among these 36 patients included combined factor XI:C and XII:C deficiencies (4 patients) and factor XI:C and VIII:C deficiencies (4), and 1 patient had combined factor VIII:C, XI:C, and XII:C deficiency. There was poor correlation between a history of abnormal bleeding and coagulation-factor deficit. In five families, similar coagulation-factor deficiencies were present in first-degree relatives with the syndrome. The pattern of inherited bleeding abnormalities seen in Noonan's syndrome suggests autosomal regulation of the intrinsic coagulation pathway.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Factor XI Deficiency / blood*
  • Factor XII Deficiency / blood*
  • Family
  • Female
  • Hemophilia A / blood*
  • Hemorrhage / blood*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Noonan Syndrome / blood*
  • Noonan Syndrome / complications
  • Partial Thromboplastin Time
  • Prospective Studies